遗传 ›› 2025, Vol. 47 ›› Issue (11): 1231-1243.doi: 10.16288/j.yczz.25-101
收稿日期:2025-04-11
修回日期:2025-06-26
出版日期:2025-11-20
发布日期:2025-07-22
通讯作者:
石宏,博士,教授,研究方向:遗传多样性与疾病。E-mail: shih@kust.edu.cn作者简介:李润,硕士研究生,专业方向:遗传多样性与疾病。E-mail: 2805214365@qq.com
基金资助:Received:2025-04-11
Revised:2025-06-26
Published:2025-11-20
Online:2025-07-22
Supported by:摘要:
不同灵长类物种中存在体型上的显著差异,为探究影响灵长类体型演化的相关基因,选取6种体型差异显著的灵长类物种,通过比较基因组、分子进化和转录组学的分析手段筛选到Bcl-2基因对灵长类体型有显著的影响。结果显示,Bcl-2基因表达量与体型大小呈正相关,并且其在不同体型物种中经历了差异化的自然选择。群体遗传分析发现,Bcl-2特定SNP位点与体型进化相关,细胞实验证实该基因通过调控Wnt/β-catenin和BMP等通路影响成骨细胞增殖。多组学综合分析还表明,Bcl-2表达水平随体型增大而升高,在体型差异大的物种间表现出显著的选择信号和理化性质差异。基因功能研究表明,Bcl-2通过调控骨骼发育相关通路在体型演化中发挥关键作用。本研究揭示了Bcl-2作为关键调控因子,通过影响细胞凋亡、骨骼发育和代谢等过程参与灵长类体型适应性进化。本研究从进化遗传学角度揭示了导致灵长类体型差异的分子机制,为理解灵长类体型演化提供了新见解。
李润, 石宏. Bcl-2基因功能与灵长类体型大小的适应性进化研究[J]. 遗传, 2025, 47(11): 1231-1243.
Run Li, Hong Shi. Function of Bcl-2 gene and its mechanism on body size adaptive evolution in primates[J]. Hereditas(Beijing), 2025, 47(11): 1231-1243.
附图2
以小鼠为外群的灵长类生物系统发生树 A:以小鼠为外群的灵长类物种系统发生树;B:以小鼠为外群的Bcl-2基因系统发生树。Callithrix jacchus:普通狨;Macaca mulatta:猕猴;Microcebus murinus:倭狐猴;Macaca fascicularis:食蟹猴;Pan troglodytes:黑猩猩;Gorilla gorilla:大猩猩;Mus musculus:小鼠。ENSMMUG00000059194:猕猴中Bcl-2基因的Ensembl ID;ENSMFAG00000056444:食蟹猴中Bcl-2基因的Ensembl ID;ENSGGOG00000037403:大猩猩中Bcl-2基因的Ensembl ID;ENSPTRG00000042753:黑猩猩中Bcl-2基因的Ensembl ID;ENSCJAG00000042791:普通狨中Bcl-2基因的Ensembl ID;ENSMICG00000036161:倭狐猴中Bcl-2基因的Ensembl ID;ENSMUSG00000057329:小鼠中Bcl-2基因的Ensembl ID。"
表3
FIN与ESN人群中Bcl-2的SNP位点遗传参数"
| SNP | 人群 | nSL | Tajima’s D | Pi | Fst | Xp-nSL |
|---|---|---|---|---|---|---|
| rs4941192 | FIN | 0.636705 | 1.24071 | 0.379429 | 0.470176 | -0.142371 |
| ESN | -0.0186909 | -0.838665 | 0.311747 | |||
| rs6567332 | FIN | 0.269086 | -0.440567 | 0.0963954 | 0.532346 | -0.356843 |
| ESN | -0.251376 | 1.79657 | 0.473004 | |||
| rs8084922 | FIN | 0.462339 | 1.73321 | 0.462339 | 0.0156391 | -0.0279568 |
| ESN | -0.499257 | 1.95251 | 0.499257 | |||
| rs6567334 | FIN | 0.523917 | 1.96713 | 0.190586 | 0.329328 | -0.412335 |
| ESN | -0.670456 | 0.118944 | 0.501718 | |||
| rs8096471 | FIN | 0.127239 | 0.348902 | 0.229298 | 0.164199 | -0.402444 |
| ESN | -0.352603 | 1.85017 | 0.482028 |
附表1
rs4941192在西非及西欧人群中的等位基因频率分布"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_ phase3 | 96 | African Caribbeans in Barbados | aa:30;ag:49;gg:17 | 0.43 |
| 2 | ASW | Homo sapiens | Africa | 1KG_ phase3 | 61 | Americans of African Ancestry in SW USA | aa:16;ag:34;gg:11 | 0.46 |
| 3 | GWD | Homo sapiens | Africa | 1KG_ phase3 | 113 | Gambian in Western Divisions in the Gambia | aa:26;ag:44;gg:43 | 0.58 |
| 4 | ESN | Homo sapiens | Africa | 1KG_ phase3 | 99 | Esan in Nigeria | aa:19;ag:57;gg:23 | 0.52 |
| 5 | LWK | Homo sapiens | Africa | 1KG_ phase3 | 99 | Luhya in Webuye, Kenya | aa:18;ag:55;gg:26 | 0.54 |
| 6 | MSL | Homo sapiens | Africa | 1KG_ phase3 | 85 | Mende in Sierra Leone | aa:11;ag:47;gg:27 | 0.59 |
| 7 | YRI | Homo sapiens | Africa | 1KG_ phase3 | 108 | Yoruba in Ibadan, Nigeria | aa:22;ag:54;gg:32 | 0.55 |
| 8 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | aa:0;ag:0;gg:2 | 1.00 |
| 9 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | aa:0;ag:1;gg:1 | 0.75 |
| 10 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | aa:0;ag:0;gg:2 | 1.00 |
| 11 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | aa:0;ag:0;gg:2 | 1.00 |
| 12 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | aa:2;ag:0;gg:1 | 0.33 |
| 13 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | aa:0;ag:1;gg:1 | 0.75 |
| 14 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | aa:0;ag:1;gg:1 | 0.75 |
| 15 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | aa:1;ag:2;gg:1 | 0.50 |
| 16 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | aa:0;ag:1;gg:1 | 0.75 |
| 17 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | aa:1;ag:0;gg:1 | 0.50 |
| 18 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | aa:0;ag:2;gg:0 | 0.50 |
| 19 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | aa:0;ag:1;gg:2 | 0.83 |
| 20 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | aa:2;ag:0;gg:0 | 0.00 |
| 21 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | aa:0;ag:2;gg:2 | 0.75 |
| 22 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | aa:0;ag:2;gg:0 | 0.50 |
| 23 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | aa:2;ag:0;gg:0 | 0.00 |
| 24 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | aa:1;ag:1;gg:0 | 0.25 |
| 25 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | aa:1;ag:0;gg:0 | 0.00 |
| 26 | Algerian | Homo sapiens | Africa | HuOrigin | 7 | Algerian | aa:4;ag:3;gg:0 | 0.21 |
| 27 | BantuKenya | Homo sapiens | Africa | HuOrigin | 6 | Bantu of Kenya | aa:1;ag:4;gg:1 | 0.50 |
| 28 | BantuSouthAfrica | Homo sapiens | Africa | HuOrigin | 8 | Bantu of South Africa | aa:0;ag:3;gg:5 | 0.81 |
| 29 | BiakaPygmy | Homo sapiens | Africa | HuOrigin | 20 | Biaka Pygmy | aa:1;ag:4;gg:15 | 0.85 |
| 30 | Damara | Homo sapiens | Africa | HuOrigin | 12 | Damara | aa:2;ag:7;gg:3 | 0.54 |
| 31 | Datog | Homo sapiens | Africa | HuOrigin | 3 | Datooga people | aa:3;ag:0;gg:0 | 0.00 |
| 32 | Dinka | Homo sapiens | Africa | HuOrigin | 7 | Dinka | aa:5;ag:0;gg:2 | 0.29 |
| 33 | Egyptians | Homo sapiens | Africa | HuOrigin | 18 | Egyptians | aa:17;ag:1;gg:0 | 0.03 |
| 34 | Esan | Homo sapiens | Africa | HuOrigin | 8 | Esan | aa:1;ag:5;gg:2 | 0.56 |
| 35 | Ethiopian_Jews | Homo sapiens | Africa | HuOrigin | 7 | Ethiopian Jews | aa:1;ag:3;gg:3 | 0.64 |
| 36 | Gambian | Homo sapiens | Africa | HuOrigin | 6 | Gambian | aa:0;ag:4;gg:2 | 0.67 |
| 37 | Gana | Homo sapiens | Africa | HuOrigin | 8 | Gana | aa:0;ag:4;gg:4 | 0.75 |
| 38 | Gui | Homo sapiens | Africa | HuOrigin | 7 | G|ui | aa:0;ag:2;gg:5 | 0.86 |
| 39 | Hadza | Homo sapiens | Africa | HuOrigin | 22 | Hadza people | aa:9;ag:11;gg:2 | 0.34 |
| 40 | Haiom | Homo sapiens | Africa | HuOrigin | 7 | Hai_om | aa:0;ag:5;gg:2 | 0.64 |
| 41 | Himba | Homo sapiens | Africa | HuOrigin | 4 | Himba | aa:3;ag:1;gg:0 | 0.13 |
| 42 | Hoan | Homo sapiens | Africa | HuOrigin | 7 | _\?Amkoe | aa:0;ag:4;gg:3 | 0.71 |
| 43 | Ju_hoan_North | Homo sapiens | Africa | HuOrigin | 22 | Ju\'hoan San of Namibia | aa:2;ag:14;gg:6 | 0.59 |
| 44 | Ju_hoan_South | Homo sapiens | Africa | HuOrigin | 6 | Ju\'hoan San of Botswana | aa:0;ag:5;gg:1 | 0.58 |
| 45 | Kgalagadi | Homo sapiens | Africa | HuOrigin | 5 | The Kgalagadi | aa:1;ag:3;gg:1 | 0.50 |
| 46 | Khomani | Homo sapiens | Africa | HuOrigin | 11 | Khomani San | aa:1;ag:5;gg:5 | 0.68 |
| 47 | Khwe | Homo sapiens | Africa | HuOrigin | 8 | Khwe speakers | aa:0;ag:2;gg:6 | 0.88 |
| 48 | Kikuyu | Homo sapiens | Africa | HuOrigin | 4 | Kikuyu | aa:2;ag:0;gg:2 | 0.50 |
| 49 | Libyan_Jew | Homo sapiens | Africa | HuOrigin | 9 | Libyan Jews | aa:9;ag:0;gg:0 | 0.00 |
| 50 | Luhya | Homo sapiens | Africa | HuOrigin | 8 | Luhya | aa:3;ag:4;gg:1 | 0.38 |
| 51 | Luo | Homo sapiens | Africa | HuOrigin | 8 | Luo | aa:3;ag:4;gg:1 | 0.38 |
| 52 | Mandenka | Homo sapiens | Africa | HuOrigin | 17 | Mandinka people | aa:5;ag:9;gg:3 | 0.44 |
| 53 | Masai | Homo sapiens | Africa | HuOrigin | 12 | Maasai | aa:7;ag:4;gg:1 | 0.25 |
| 54 | MbutiPygmy | Homo sapiens | Africa | HuOrigin | 9 | Mbuti Pygmy | aa:0;ag:5;gg:4 | 0.72 |
| 55 | Mende | Homo sapiens | Africa | HuOrigin | 8 | Mende people | aa:0;ag:7;gg:1 | 0.56 |
| 56 | Moroccan_Jews | Homo sapiens | Africa | HuOrigin | 6 | Moroccan Jews | aa:6;ag:0;gg:0 | 0.00 |
| 57 | Mozabites | Homo sapiens | Africa | HuOrigin | 21 | Mozabite people | aa:16;ag:5;gg:0 | 0.12 |
| 58 | Nama | Homo sapiens | Africa | HuOrigin | 16 | Nama | aa:4;ag:6;gg:6 | 0.56 |
| 59 | Naro | Homo sapiens | Africa | HuOrigin | 8 | Naro speakers | aa:0;ag:2;gg:6 | 0.88 |
| 60 | Oromo | Homo sapiens | Africa | HuOrigin | 4 | Oromo | aa:4;ag:0;gg:0 | 0.00 |
| 61 | Saharawi | Homo sapiens | Africa | HuOrigin | 6 | Saharawi | aa:3;ag:3;gg:0 | 0.25 |
| 62 | Sandawe | Homo sapiens | Africa | HuOrigin | 22 | Sandawe | aa:9;ag:8;gg:5 | 0.41 |
| 63 | Shua | Homo sapiens | Africa | HuOrigin | 9 | Shua speakers | aa:1;ag:1;gg:7 | 0.83 |
| 64 | Somali | Homo sapiens | Africa | HuOrigin | 13 | Somalis | aa:6;ag:4;gg:3 | 0.38 |
| 65 | Taa_East | Homo sapiens | Africa | HuOrigin | 7 | Taa speakers East | aa:1;ag:2;gg:4 | 0.71 |
| 66 | Taa_North | Homo sapiens | Africa | HuOrigin | 9 | Taa speakers North | aa:1;ag:5;gg:3 | 0.61 |
| 67 | Taa_West | Homo sapiens | Africa | HuOrigin | 16 | Taa speakers West | aa:2;ag:8;gg:6 | 0.63 |
| 68 | Tshwa | Homo sapiens | Africa | HuOrigin | 5 | Tshwa | aa:0;ag:3;gg:2 | 0.70 |
| 69 | Tswana | Homo sapiens | Africa | HuOrigin | 5 | Tswana people | aa:1;ag:3;gg:1 | 0.50 |
| 70 | Tunisian | Homo sapiens | Africa | HuOrigin | 8 | Tunisian | aa:5;ag:3;gg:0 | 0.19 |
| 71 | Tunisian_Jew | Homo sapiens | Africa | HuOrigin | 7 | Tunisian Jews | aa:7;ag:0;gg:0 | 0.00 |
| 72 | Wambo | Homo sapiens | Africa | HuOrigin | 5 | Ovambo people | aa:0;ag:3;gg:2 | 0.70 |
| 73 | Xuun | Homo sapiens | Africa | HuOrigin | 13 | !Xuun | aa:1;ag:8;gg:4 | 0.62 |
| 74 | Yoruba | Homo sapiens | Africa | HuOrigin | 70 | Yoruba people | aa:11;ag:33;gg:26 | 0.61 |
| 75 | CHB | Homo sapiens | EastAsia | 1KG_phase3 | 103 | Han Chinese in Beijing, China | aa:83;ag:20;gg:0 | 0.10 |
| 76 | CHS | Homo sapiens | EastAsia | 1KG_phase3 | 105 | Southern Han Chinese | aa:91;ag:13;gg:1 | 0.07 |
| 77 | CDX | Homo sapiens | EastAsia | 1KG_phase3 | 93 | Chinese Dai in Xishuangbanna, China | aa:84;ag:9;gg:0 | 0.05 |
| 78 | JPT | Homo sapiens | EastAsia | 1KG_phase3 | 104 | Japanese in Tokyo, Japan | aa:90;ag:14;gg:0 | 0.07 |
| 79 | KHV | Homo sapiens | EastAsia | 1KG_phase3 | 99 | Kinh in Ho Chi Minh City, Vietnam | aa:85;ag:13;gg:1 | 0.08 |
| 80 | Ami | Homo sapiens | EastAsia | SGDP | 2 | Ami | aa:2;ag:0;gg:0 | 0.00 |
| 81 | Atayal | Homo sapiens | EastAsia | SGDP | 1 | Atayal | aa:1;ag:0;gg:0 | 0.00 |
| 82 | DL | Homo sapiens | EastAsia | AAGC | 178 | Dolan people in China | aa:158;ag:20;gg:0 | 0.06 |
| 83 | HAN | Homo sapiens | EastAsia | AAGC | 90 | Han Chinese in China | aa:78;ag:11;gg:1 | 0.07 |
| 84 | Hui | Homo sapiens | EastAsia | AAGC | 234 | Hui people in China | aa:194;ag:36;gg:4 | 0.09 |
| 85 | KA | Homo sapiens | EastAsia | AAGC | 70 | KA people in China | aa:55;ag:14;gg:1 | 0.11 |
| 86 | KZK | Homo sapiens | EastAsia | AAGC | 28 | Kazak people in China | aa:20;ag:7;gg:1 | 0.16 |
| 87 | LN | Homo sapiens | EastAsia | AAGC | 164 | Lopnur people in China | aa:122;ag:35;gg:7 | 0.15 |
| 88 | SHP | Homo sapiens | EastAsia | AAGC | 5 | Sherpa people in China | aa:4;ag:1;gg:0 | 0.10 |
| 89 | Burmese | Homo sapiens | EastAsia | SGDP | 2 | Burmese | aa:2;ag:0;gg:0 | 0.00 |
| 90 | TBN | Homo sapiens | EastAsia | AAGC | 33 | Tibetan people in China | aa:24;ag:9;gg:0 | 0.14 |
| 91 | Cambodian | Homo sapiens | EastAsia | SGDP | 2 | Cambodian | aa:2;ag:0;gg:0 | 0.00 |
| 92 | TZK | Homo sapiens | EastAsia | AAGC | 26 | Tajiks in China | aa:15;ag:9;gg:2 | 0.25 |
| 93 | UIG | Homo sapiens | EastAsia | AAGC | 92 | Uyghurs in China | aa:78;ag:14;gg:0 | 0.08 |
| 94 | Dai | Homo sapiens | EastAsia | SGDP | 4 | Dai | aa:3;ag:1;gg:0 | 0.13 |
| 95 | Daur | Homo sapiens | EastAsia | SGDP | 1 | Daur | aa:1;ag:0;gg:0 | 0.00 |
| 96 | Han | Homo sapiens | EastAsia | SGDP | 3 | Han | aa:3;ag:0;gg:0 | 0.00 |
| 97 | Hezhen | Homo sapiens | EastAsia | SGDP | 2 | Hezhen | aa:1;ag:1;gg:0 | 0.25 |
| 98 | Japanese | Homo sapiens | EastAsia | SGDP | 3 | Japanese | aa:2;ag:1;gg:0 | 0.17 |
| 99 | Kinh | Homo sapiens | EastAsia | SGDP | 2 | Kinh | aa:2;ag:0;gg:0 | 0.00 |
| 100 | Korean | Homo sapiens | EastAsia | SGDP | 2 | Korean | aa:2;ag:0;gg:0 | 0.00 |
| 101 | Lahu | Homo sapiens | EastAsia | SGDP | 2 | Lahu | aa:2;ag:0;gg:0 | 0.00 |
| 102 | Miao | Homo sapiens | EastAsia | SGDP | 2 | Miao | aa:2;ag:0;gg:0 | 0.00 |
| 103 | Naxi | Homo sapiens | EastAsia | SGDP | 3 | Naxi | aa:2;ag:1;gg:0 | 0.17 |
| 104 | Oroqen | Homo sapiens | EastAsia | SGDP | 2 | Oroqen | aa:2;ag:0;gg:0 | 0.00 |
| 105 | She | Homo sapiens | EastAsia | SGDP | 2 | She | aa:2;ag:0;gg:0 | 0.00 |
| 106 | JPN | Homo sapiens | EastAsia | 3.5KJPN | NaN | Japanese (Iwate; Miyagi; Shiga; Nagasaki) | 0.00 | |
| 107 | Atayal | Homo sapiens | EastAsia | HuOrigin | 9 | Atayal | aa:3;ag:6;gg:0 | 0.33 |
| 108 | Cambodian | Homo sapiens | EastAsia | HuOrigin | 8 | Cambodian | aa:6;ag:2;gg:0 | 0.13 |
| 109 | Dai | Homo sapiens | EastAsia | HuOrigin | 10 | Dai | aa:9;ag:1;gg:0 | 0.05 |
| 110 | Daurs | Homo sapiens | EastAsia | HuOrigin | 9 | Dahur | aa:5;ag:3;gg:1 | 0.28 |
| 111 | Han | Homo sapiens | EastAsia | HuOrigin | 33 | Han | aa:31;ag:2;gg:0 | 0.03 |
| 112 | Han_North | Homo sapiens | EastAsia | HuOrigin | 10 | Han | aa:6;ag:1;gg:3 | 0.35 |
| 113 | Hezhens | Homo sapiens | EastAsia | HuOrigin | 8 | Hezhens | aa:6;ag:2;gg:0 | 0.13 |
| 114 | Japanese | Homo sapiens | EastAsia | HuOrigin | 29 | Japanese | aa:24;ag:5;gg:0 | 0.09 |
| 115 | Kinh | Homo sapiens | EastAsia | HuOrigin | 8 | Kinh people | aa:8;ag:0;gg:0 | 0.00 |
| 116 | Korean | Homo sapiens | EastAsia | HuOrigin | 6 | Koreans | aa:4;ag:2;gg:0 | 0.17 |
| 117 | Lahu | Homo sapiens | EastAsia | HuOrigin | 8 | Lahu | aa:6;ag:2;gg:0 | 0.13 |
| 118 | Miaozu | Homo sapiens | EastAsia | HuOrigin | 10 | Miao people | aa:9;ag:0;gg:1 | 0.10 |
| 119 | Naxi | Homo sapiens | EastAsia | HuOrigin | 9 | Naxi people | aa:5;ag:4;gg:0 | 0.22 |
| 120 | Oroqens | Homo sapiens | EastAsia | HuOrigin | 9 | Oroqen people | aa:9;ag:0;gg:0 | 0.00 |
| 121 | She | Homo sapiens | EastAsia | HuOrigin | 10 | She people | aa:10;ag:0;gg:0 | 0.00 |
| 122 | Thai | Homo sapiens | EastAsia | HuOrigin | 10 | Thai?people | aa:7;ag:0;gg:3 | 0.30 |
| 123 | Tu | Homo sapiens | EastAsia | HuOrigin | 10 | Tu people | aa:9;ag:1;gg:0 | 0.05 |
| 124 | Tujia | Homo sapiens | EastAsia | HuOrigin | 10 | Tujia people | aa:8;ag:1;gg:1 | 0.15 |
| 125 | Xibo | Homo sapiens | EastAsia | HuOrigin | 7 | Xibo people | aa:5;ag:2;gg:0 | 0.14 |
| 126 | Yizu | Homo sapiens | EastAsia | HuOrigin | 10 | Yi people | aa:9;ag:1;gg:0 | 0.05 |
| 127 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:89;ag:10;gg:0 | 0.05 |
| 128 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | aa:97;ag:10;gg:0 | 0.05 |
| 129 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | aa:80;ag:17;gg:2 | 0.11 |
| 130 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | aa:86;ag:5;gg:0 | 0.03 |
| 131 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | aa:101;ag:6;gg:0 | 0.03 |
| 132 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | aa:2;ag:0;gg:0 | 0.00 |
| 133 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | aa:2;ag:0;gg:0 | 0.00 |
| 134 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | aa:1;ag:0;gg:0 | 0.00 |
| 135 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | aa:1;ag:1;gg:0 | 0.25 |
| 136 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | aa:2;ag:0;gg:0 | 0.00 |
| 137 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | aa:2;ag:0;gg:0 | 0.00 |
| 138 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | aa:2;ag:0;gg:0 | 0.00 |
| 139 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | aa:2;ag:0;gg:0 | 0.00 |
| 140 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | aa:1;ag:0;gg:0 | 0.00 |
| 141 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | aa:2;ag:0;gg:0 | 0.00 |
| 142 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | aa:1;ag:0;gg:0 | 0.00 |
| 143 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | aa:1;ag:1;gg:0 | 0.25 |
| 144 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | aa:1;ag:1;gg:0 | 0.25 |
| 145 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | aa:2;ag:0;gg:0 | 0.00 |
| 146 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | aa:3;ag:0;gg:0 | 0.00 |
| 147 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | aa:2;ag:1;gg:0 | 0.17 |
| 148 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | aa:2;ag:0;gg:0 | 0.00 |
| 149 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | aa:2;ag:0;gg:0 | 0.00 |
| 150 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | aa:2;ag:0;gg:0 | 0.00 |
| 151 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | aa:2;ag:0;gg:0 | 0.00 |
| 152 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | aa:2;ag:0;gg:0 | 0.00 |
| 153 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | aa:2;ag:0;gg:0 | 0.00 |
| 154 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | aa:3;ag:0;gg:0 | 0.00 |
| 155 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | aa:2;ag:0;gg:0 | 0.00 |
| 156 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | aa:2;ag:0;gg:0 | 0.00 |
| 157 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | aa:1;ag:0;gg:0 | 0.00 |
| 158 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | aa:2;ag:0;gg:0 | 0.00 |
| 159 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | aa:1;ag:0;gg:0 | 0.00 |
| 160 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | aa:2;ag:0;gg:0 | 0.00 |
| 161 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | aa:2;ag:0;gg:0 | 0.00 |
| 162 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | aa:1;ag:0;gg:0 | 0.00 |
| 163 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | aa:3;ag:0;gg:0 | 0.00 |
| 164 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | aa:2;ag:0;gg:0 | 0.00 |
| 165 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | aa:1;ag:1;gg:0 | 0.25 |
| 166 | Abkhasians | Homo sapiens | WestEurasia | HuOrigin | 9 | Abkhasians | aa:8;ag:1;gg:0 | 0.06 |
| 167 | Adyghe | Homo sapiens | WestEurasia | HuOrigin | 17 | Adyghe | aa:15;ag:2;gg:0 | 0.06 |
| 168 | Albanian | Homo sapiens | WestEurasia | HuOrigin | 6 | Albanian | aa:5;ag:1;gg:0 | 0.08 |
| 169 | Armenians | Homo sapiens | WestEurasia | HuOrigin | 10 | Armenians | aa:10;ag:0;gg:0 | 0.00 |
| 170 | Ashkenazy_Jews | Homo sapiens | WestEurasia | HuOrigin | 7 | Ashkenazic Jews | aa:6;ag:1;gg:0 | 0.07 |
| 171 | Balkars | Homo sapiens | WestEurasia | HuOrigin | 10 | Balkars | aa:6;ag:4;gg:0 | 0.20 |
| 172 | Basque | Homo sapiens | WestEurasia | HuOrigin | 29 | Basques | aa:29;ag:0;gg:0 | 0.00 |
| 173 | BedouinA | Homo sapiens | WestEurasia | HuOrigin | 25 | BedouinA | aa:22;ag:2;gg:1 | 0.08 |
| 174 | BedouinB | Homo sapiens | WestEurasia | HuOrigin | 18 | BedouinB | aa:12;ag:5;gg:1 | 0.19 |
| 175 | Belarusians | Homo sapiens | WestEurasia | HuOrigin | 10 | Belarusians | aa:10;ag:0;gg:0 | 0.00 |
| 176 | Bulgarians | Homo sapiens | WestEurasia | HuOrigin | 10 | Bulgarians | aa:9;ag:1;gg:0 | 0.05 |
| 177 | Canary_Islanders | Homo sapiens | WestEurasia | HuOrigin | 2 | Canary Islanders | aa:2;ag:0;gg:0 | 0.00 |
| 178 | Chechens | Homo sapiens | WestEurasia | HuOrigin | 9 | Chechen | aa:9;ag:0;gg:0 | 0.00 |
| 179 | Chuvashes | Homo sapiens | WestEurasia | HuOrigin | 10 | Chuvashes | aa:8;ag:2;gg:0 | 0.10 |
| 180 | Croatian | Homo sapiens | WestEurasia | HuOrigin | 10 | Croats | aa:10;ag:0;gg:0 | 0.00 |
| 181 | Cypriots | Homo sapiens | WestEurasia | HuOrigin | 8 | Cyprus | aa:8;ag:0;gg:0 | 0.00 |
| 182 | Czech | Homo sapiens | WestEurasia | HuOrigin | 10 | Czechs | aa:10;ag:0;gg:0 | 0.00 |
| 183 | Druze | Homo sapiens | WestEurasia | HuOrigin | 39 | Druze | aa:27;ag:12;gg:0 | 0.15 |
| 184 | English | Homo sapiens | WestEurasia | HuOrigin | 10 | English people | aa:8;ag:2;gg:0 | 0.10 |
| 185 | Estonians | Homo sapiens | WestEurasia | HuOrigin | 10 | Estonians | aa:9;ag:1;gg:0 | 0.05 |
| 186 | Finnish | Homo sapiens | WestEurasia | HuOrigin | 7 | Finnish | aa:6;ag:1;gg:0 | 0.07 |
| 187 | French | Homo sapiens | WestEurasia | HuOrigin | 25 | French | aa:23;ag:2;gg:0 | 0.04 |
| 188 | French_South | Homo sapiens | WestEurasia | HuOrigin | 7 | French South | aa:7;ag:0;gg:0 | 0.00 |
| 189 | Georgian_Jews | Homo sapiens | WestEurasia | HuOrigin | 7 | Georgian Jews | aa:7;ag:0;gg:0 | 0.00 |
| 190 | Georgians | Homo sapiens | WestEurasia | HuOrigin | 10 | Georgians | aa:10;ag:0;gg:0 | 0.00 |
| 191 | Greek | Homo sapiens | WestEurasia | HuOrigin | 20 | Greeks | aa:18;ag:2;gg:0 | 0.05 |
| 192 | Hungarians | Homo sapiens | WestEurasia | HuOrigin | 20 | Hungarians | aa:17;ag:3;gg:0 | 0.08 |
| 193 | Icelandic | Homo sapiens | WestEurasia | HuOrigin | 12 | Icelanders | aa:8;ag:4;gg:0 | 0.17 |
| 194 | Iranian_Jews | Homo sapiens | WestEurasia | HuOrigin | 9 | Iranian Jews | aa:9;ag:0;gg:0 | 0.00 |
| 195 | Iranians | Homo sapiens | WestEurasia | HuOrigin | 8 | Iranian peoples | aa:6;ag:2;gg:0 | 0.13 |
| 196 | Iraqi_Jews | Homo sapiens | WestEurasia | HuOrigin | 6 | Iraqi Jews | aa:6;ag:0;gg:0 | 0.00 |
| 197 | Italian_North | Homo sapiens | WestEurasia | HuOrigin | 12 | Italian of Bergamo | aa:12;ag:0;gg:0 | 0.00 |
| 198 | Italian_South | Homo sapiens | WestEurasia | HuOrigin | 1 | Italian South | aa:1;ag:0;gg:0 | 0.00 |
| 199 | Jordanians | Homo sapiens | WestEurasia | HuOrigin | 9 | Jordanians | aa:8;ag:1;gg:0 | 0.06 |
| 200 | Kumyks | Homo sapiens | WestEurasia | HuOrigin | 8 | Kumyks | aa:6;ag:2;gg:0 | 0.13 |
| 201 | Lebanese | Homo sapiens | WestEurasia | HuOrigin | 8 | Lebanese | aa:7;ag:1;gg:0 | 0.06 |
| 202 | Lezgins | Homo sapiens | WestEurasia | HuOrigin | 9 | Lezgins | aa:8;ag:1;gg:0 | 0.06 |
| 203 | Lithuanians | Homo sapiens | WestEurasia | HuOrigin | 10 | Lithuanians | aa:10;ag:0;gg:0 | 0.00 |
| 204 | Maltese | Homo sapiens | WestEurasia | HuOrigin | 8 | Maltese people | aa:8;ag:0;gg:0 | 0.00 |
| 205 | Mordovians | Homo sapiens | WestEurasia | HuOrigin | 10 | Mordvins | aa:9;ag:0;gg:1 | 0.10 |
| 206 | Nogais | Homo sapiens | WestEurasia | HuOrigin | 9 | Nogais | aa:7;ag:2;gg:0 | 0.11 |
| 207 | NorthOssetians | Homo sapiens | WestEurasia | HuOrigin | 10 | Ossetians North | aa:9;ag:1;gg:0 | 0.05 |
| 208 | Norwegian | Homo sapiens | WestEurasia | HuOrigin | 11 | Norwegians | aa:8;ag:3;gg:0 | 0.14 |
| 209 | Orcadians | Homo sapiens | WestEurasia | HuOrigin | 13 | Orcadians | aa:13;ag:0;gg:0 | 0.00 |
| 210 | Palestinians | Homo sapiens | WestEurasia | HuOrigin | 38 | Palestinians | aa:36;ag:2;gg:0 | 0.03 |
| 211 | Russians_North | Homo sapiens | WestEurasia | HuOrigin | 22 | Russians | aa:22;ag:0;gg:0 | 0.00 |
| 212 | Sardinian | Homo sapiens | WestEurasia | HuOrigin | 27 | Sardinian people | aa:24;ag:3;gg:0 | 0.06 |
| 213 | Saudis | Homo sapiens | WestEurasia | HuOrigin | 8 | Saudis | aa:6;ag:2;gg:0 | 0.13 |
| 214 | Scottish | Homo sapiens | WestEurasia | HuOrigin | 4 | Scottish | aa:4;ag:0;gg:0 | 0.00 |
| 215 | Sicilian | Homo sapiens | WestEurasia | HuOrigin | 11 | Sicilian | aa:10;ag:1;gg:0 | 0.05 |
| 216 | Spanish | Homo sapiens | WestEurasia | HuOrigin | 53 | Spanish | aa:48;ag:5;gg:0 | 0.05 |
| 217 | Spanish_North | Homo sapiens | WestEurasia | HuOrigin | 5 | Spanish North | aa:4;ag:1;gg:0 | 0.10 |
| 218 | Syrians | Homo sapiens | WestEurasia | HuOrigin | 8 | Syrians | aa:8;ag:0;gg:0 | 0.00 |
| 219 | Turkish | Homo sapiens | WestEurasia | HuOrigin | 56 | Turkish people | aa:48;ag:8;gg:0 | 0.07 |
| 220 | Turkish_Jew | Homo sapiens | WestEurasia | HuOrigin | 8 | Turkish Jews | aa:8;ag:0;gg:0 | 0.00 |
| 221 | Tuscany | Homo sapiens | WestEurasia | HuOrigin | 8 | Italian of Tuscany | aa:7;ag:1;gg:0 | 0.06 |
| 222 | Yemenese | Homo sapiens | WestEurasia | HuOrigin | 6 | Yemeni people | aa:6;ag:0;gg:0 | 0.00 |
| 223 | Yemenite_Jews | Homo sapiens | WestEurasia | HuOrigin | 8 | Yemenite Jews | aa:7;ag:1;gg:0 | 0.06 |
| 224 | fin | Homo sapiens | WestEurasia | gnomAD.genomes | 1,737 | Finnish | aa:1430;ag:292;gg:15 | 0.09 |
| 225 | nfe_est | Homo sapiens | WestEurasia | gnomAD.genomes | 2,294 | Estonian | aa:2052;ag:240;gg:2 | 0.05 |
| 226 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD.genomes | 4,298 | North-Western European | aa:3772;ag:506;gg:20 | 0.06 |
| 227 | nfe_onf | Homo sapiens | WestEurasia | gnomAD.genomes | 1,069 | Other non-Finnish European | aa:943;ag:121;gg:5 | 0.06 |
| 228 | nfe_seu | Homo sapiens | WestEurasia | gnomAD.genomes | 53 | Southern European | aa:46;ag:7;gg:0 | 0.07 |
附表2
rs6567332在西非及西欧人群中的等位基因频率分布"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | cc:19;ct:50;tt:27 | 0.46 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | cc:14;ct:39;tt:8 | 0.55 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | cc:21;ct:56;tt:36 | 0.43 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | cc:16;ct:43;tt:40 | 0.38 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | cc:24;ct:48;tt:27 | 0.48 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | cc:14;ct:47;tt:24 | 0.44 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | cc:16;ct:56;tt:36 | 0.41 |
| 8 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | cc:1;ct:0;tt:1 | 0.50 |
| 9 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | cc:0;ct:0;tt:2 | 0.00 |
| 10 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | cc:0;ct:2;tt:0 | 0.50 |
| 11 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | cc:0;ct:2;tt:0 | 0.50 |
| 12 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | cc:2;ct:1;tt:0 | 0.83 |
| 13 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | cc:0;ct:0;tt:2 | 0.00 |
| 14 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | cc:0;ct:2;tt:0 | 0.50 |
| 15 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | cc:1;ct:3;tt:0 | 0.63 |
| 16 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | cc:0;ct:1;tt:1 | 0.25 |
| 17 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | cc:1;ct:1;tt:0 | 0.75 |
| 18 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | cc:2;ct:0;tt:0 | 1.00 |
| 19 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | cc:0;ct:2;tt:1 | 0.33 |
| 20 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | cc:0;ct:1;tt:1 | 0.25 |
| 21 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | cc:2;ct:2;tt:0 | 0.75 |
| 22 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | cc:0;ct:2;tt:0 | 0.50 |
| 23 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | cc:1;ct:1;tt:0 | 0.75 |
| 24 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | cc:1;ct:1;tt:0 | 0.75 |
| 25 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | cc:0;ct:1;tt:0 | 0.50 |
| 26 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | cc:78;ct:20;tt:1 | 0.89 |
| 27 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | cc:77;ct:28;tt:2 | 0.85 |
| 28 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | cc:89;ct:10;tt:0 | 0.95 |
| 29 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | cc:71;ct:19;tt:1 | 0.88 |
| 30 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | cc:75;ct:30;tt:2 | 0.84 |
| 31 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | cc:1;ct:1;tt:0 | 0.75 |
| 32 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | cc:2;ct:0;tt:0 | 1.00 |
| 33 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | cc:1;ct:0;tt:0 | 1.00 |
| 34 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | cc:2;ct:0;tt:0 | 1.00 |
| 35 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | cc:2;ct:0;tt:0 | 1.00 |
| 36 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | cc:0;ct:2;tt:0 | 0.50 |
| 37 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | cc:2;ct:0;tt:0 | 1.00 |
| 38 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | cc:1;ct:1;tt:0 | 0.75 |
| 39 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | cc:1;ct:0;tt:0 | 1.00 |
| 40 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | cc:0;ct:2;tt:0 | 0.50 |
| 41 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | cc:0;ct:1;tt:0 | 0.50 |
| 42 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | cc:0;ct:2;tt:0 | 0.50 |
| 43 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | cc:2;ct:0;tt:0 | 1.00 |
| 44 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | cc:2;ct:0;tt:0 | 1.00 |
| 45 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | cc:3;ct:0;tt:0 | 1.00 |
| 46 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | cc:3;ct:0;tt:0 | 1.00 |
| 47 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | cc:1;ct:1;tt:0 | 0.75 |
| 48 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | cc:2;ct:0;tt:0 | 1.00 |
| 49 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | cc:1;ct:0;tt:1 | 0.50 |
| 50 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | cc:1;ct:1;tt:0 | 0.75 |
| 51 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | cc:2;ct:0;tt:0 | 1.00 |
| 52 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | cc:0;ct:2;tt:0 | 0.50 |
| 53 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | cc:0;ct:3;tt:0 | 0.50 |
| 54 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | cc:1;ct:1;tt:0 | 0.75 |
| 55 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | cc:2;ct:0;tt:0 | 1.00 |
| 56 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | cc:1;ct:0;tt:0 | 1.00 |
| 57 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | cc:2;ct:0;tt:0 | 1.00 |
| 58 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | cc:1;ct:0;tt:0 | 1.00 |
| 59 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | cc:1;ct:1;tt:0 | 0.75 |
| 60 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | cc:2;ct:0;tt:0 | 1.00 |
| 61 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | cc:0;ct:0;tt:1 | 0.00 |
| 62 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | cc:2;ct:1;tt:0 | 0.83 |
| 63 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | cc:1;ct:0;tt:1 | 0.50 |
| 64 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | cc:1;ct:1;tt:0 | 0.75 |
| 65 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,734 | Finnish | cc:1415;ct:295;tt:24 | 0.90 |
| 66 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,284 | Estonian | cc:1840;ct:414;tt:30 | 0.90 |
| 67 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,292 | North-Western European | cc:3130;ct:1076;tt:86 | 0.85 |
| 68 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,068 | Other non-Finnish European | cc:783;ct:261;tt:24 | 0.86 |
| 69 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 52 | Southern European | cc:40;ct:9;tt:3 | 0.86 |
附表3
rs8084922在西非及西欧人群中的等位基因频率分布"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | cc:14;cg:55;gg:27 | 0.43 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | cc:16;cg:31;gg:14 | 0.52 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | cc:23;cg:53;gg:37 | 0.44 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | cc:24;cg:43;gg:32 | 0.46 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | cc:33;cg:51;gg:15 | 0.59 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | cc:27;cg:41;gg:17 | 0.56 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | cc:26;cg:45;gg:37 | 0.45 |
| 8 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | cc:2;cg:0;gg:0 | 1.00 |
| 9 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | cc:1;cg:1;gg:0 | 0.75 |
| 10 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | cc:0;cg:2;gg:0 | 0.50 |
| 11 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | cc:1;cg:1;gg:0 | 0.75 |
| 12 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | cc:1;cg:1;gg:1 | 0.50 |
| 13 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | cc:0;cg:1;gg:1 | 0.25 |
| 14 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | cc:1;cg:0;gg:1 | 0.50 |
| 15 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | cc:4;cg:0;gg:0 | 1.00 |
| 16 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | cc:2;cg:0;gg:0 | 1.00 |
| 17 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | cc:1;cg:0;gg:1 | 0.50 |
| 18 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | cc:1;cg:1;gg:0 | 0.75 |
| 19 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | cc:1;cg:2;gg:0 | 0.67 |
| 20 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | cc:1;cg:0;gg:1 | 0.50 |
| 21 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | cc:3;cg:1;gg:0 | 0.88 |
| 22 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | cc:0;cg:1;gg:1 | 0.25 |
| 23 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | cc:0;cg:0;gg:2 | 0.00 |
| 24 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | cc:1;cg:0;gg:1 | 0.50 |
| 25 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | cc:0;cg:1;gg:0 | 0.50 |
| 26 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | cc:22;cg:58;gg:19 | 0.52 |
| 27 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | cc:28;cg:53;gg:26 | 0.51 |
| 28 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | cc:12;cg:47;gg:40 | 0.36 |
| 29 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | cc:15;cg:54;gg:22 | 0.46 |
| 30 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | cc:24;cg:52;gg:31 | 0.47 |
| 31 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | cc:0;cg:2;gg:0 | 0.50 |
| 32 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | cc:1;cg:0;gg:1 | 0.50 |
| 33 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | cc:1;cg:0;gg:0 | 1.00 |
| 34 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | cc:1;cg:1;gg:0 | 0.75 |
| 35 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | cc:2;cg:0;gg:0 | 1.00 |
| 36 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | cc:1;cg:0;gg:1 | 0.50 |
| 37 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | cc:0;cg:0;gg:2 | 0.00 |
| 38 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | cc:1;cg:1;gg:0 | 0.75 |
| 39 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | cc:0;cg:0;gg:1 | 0.00 |
| 40 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | cc:0;cg:2;gg:0 | 0.50 |
| 41 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | cc:0;cg:1;gg:0 | 0.50 |
| 42 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | cc:0;cg:1;gg:1 | 0.25 |
| 43 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | cc:0;cg:0;gg:2 | 0.00 |
| 44 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | cc:0;cg:1;gg:1 | 0.25 |
| 45 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | cc:2;cg:1;gg:0 | 0.83 |
| 46 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | cc:1;cg:1;gg:1 | 0.50 |
| 47 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | cc:1;cg:1;gg:0 | 0.75 |
| 48 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | cc:0;cg:1;gg:1 | 0.25 |
| 49 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | cc:1;cg:0;gg:1 | 0.50 |
| 50 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | cc:0;cg:0;gg:2 | 0.00 |
| 51 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | cc:0;cg:2;gg:0 | 0.50 |
| 52 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | cc:0;cg:2;gg:0 | 0.50 |
| 53 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | cc:0;cg:3;gg:0 | 0.50 |
| 54 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | cc:0;cg:2;gg:0 | 0.50 |
| 55 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | cc:1;cg:0;gg:1 | 0.50 |
| 56 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | cc:0;cg:1;gg:0 | 0.50 |
| 57 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | cc:1;cg:1;gg:0 | 0.75 |
| 58 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | cc:0;cg:1;gg:0 | 0.50 |
| 59 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | cc:1;cg:1;gg:0 | 0.75 |
| 60 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | cc:0;cg:2;gg:0 | 0.50 |
| 61 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | cc:0;cg:0;gg:1 | 0.00 |
| 62 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | cc:0;cg:3;gg:0 | 0.50 |
| 63 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | cc:0;cg:0;gg:2 | 0.00 |
| 64 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | cc:0;cg:0;gg:2 | 0.00 |
| 65 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,734 | Finnish | cc:265;cg:787;gg: 682 | 0.38 |
| 66 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,285 | Estonian | cc:505;cg:1129;gg:651 | 0.47 |
| 67 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,286 | North-Western European | cc:925;cg:2193;gg:1168 | 0.47 |
| 68 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,067 | Other non-Finnish European | cc:248;cg:538;gg:281 | 0.48 |
| 69 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 53 | Southern European | cc:12;cg:29;gg:12 | 0.50 |
附表4
rs6567334在西非及西欧人群中的等位基因频率分布"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | aa:41;ac:44;cc:11 | 0.34 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | aa:19;ac:36;cc:6 | 0.39 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | aa:54;ac:52;cc:7 | 0.29 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | aa:65;ac:30;cc:4 | 0.19 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | aa:43;ac:44;cc:12 | 0.34 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | aa:43;ac:38;cc:4 | 0.27 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | aa:52;ac:47;cc:9 | 0.30 |
| 8 | ASW | Homo sapiens | Africa | HapMap | 87 | Americans of African Ancestry in SW USA | aa:29;ac:45;cc:13 | 0.41 |
| 9 | LWK | Homo sapiens | Africa | HapMap | 110 | Luhya in Webuye, Kenya | aa:43;ac:55;cc:12 | 0.36 |
| 10 | MKK | Homo sapiens | Africa | HapMap | 182 | Maasai in Kinyawa,  Kenya | aa:37;ac:97;cc:48 | 0.53 |
| 11 | YRI | Homo sapiens | Africa | HapMap | 201 | Yoruba in Ibadan, Nigeria | aa:102;ac:81;cc:18 | 0.29 |
| 12 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | aa:2;ac:0;cc:0 | 0.00 |
| 13 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | aa:2;ac:0;cc:0 | 0.00 |
| 14 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | aa:1;ac:1;cc:0 | 0.25 |
| 15 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | aa:1;ac:1;cc:0 | 0.25 |
| 16 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | aa:1;ac:0;cc:2 | 0.67 |
| 17 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | aa:2;ac:0;cc:0 | 0.00 |
| 18 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | aa:0;ac:2;cc:0 | 0.50 |
| 19 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | aa:0;ac:3;cc:1 | 0.63 |
| 20 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | aa:1;ac:1;cc:0 | 0.25 |
| 21 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | aa:0;ac:2;cc:0 | 0.50 |
| 22 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | aa:0;ac:1;cc:1 | 0.75 |
| 23 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | aa:1;ac:2;cc:0 | 0.33 |
| 24 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | aa:1;ac:1;cc:0 | 0.25 |
| 25 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | aa:1;ac:2;cc:1 | 0.50 |
| 26 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | aa:1;ac:1;cc:0 | 0.25 |
| 27 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | aa:1;ac:0;cc:1 | 0.50 |
| 28 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | aa:0;ac:1;cc:1 | 0.75 |
| 29 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | aa:0;ac:1;cc:0 | 0.50 |
| 30 | Algeria | Homo sapiens | Africa | NegPyg | 19 | Algeria | aa:5;ac:8;cc:6 | 0.53 |
| 31 | Egypt | Homo sapiens | Africa | NegPyg | 19 | Egypt | aa:1;ac:12;cc:6 | 0.63 |
| 32 | Libya | Homo sapiens | Africa | NegPyg | 17 | Libya | aa:3;ac:7;cc:7 | 0.62 |
| 33 | MoroccoN | Homo sapiens | Africa | NegPyg | 18 | MoroccoN | aa:5;ac:5;cc:8 | 0.58 |
| 34 | MoroccoS | Homo sapiens | Africa | NegPyg | 16 | MoroccoS | aa:1;ac:8;cc:7 | 0.69 |
| 35 | SaharaOCC | Homo sapiens | Africa | NegPyg | 18 | SaharaOCC | aa:2;ac:10;cc:6 | 0.61 |
| 36 | ColouredColesberg | Homo sapiens | Africa | NegPyg | 20 | ColouredColesberg | aa:7;ac:7;cc:6 | 0.48 |
| 37 | ColouredWellington | Homo sapiens | Africa | NegPyg | 20 | ColouredWellington | aa:5;ac:10;cc:5 | 0.50 |
| 38 | GuiGhanaKgal | Homo sapiens | Africa | NegPyg | 12 | GuiGhanaKgal | aa:6;ac:4;cc:2 | 0.33 |
| 39 | Juhoansi | Homo sapiens | Africa | NegPyg | 17 | Juhoansi | aa:2;ac:6;cc:9 | 0.71 |
| 40 | Karretjie | Homo sapiens | Africa | NegPyg | 19 | Karretjie | aa:10;ac:8;cc:1 | 0.26 |
| 41 | Khomani | Homo sapiens | Africa | NegPyg | 39 | Khomani | aa:15;ac:16;cc:8 | 0.41 |
| 42 | Khwe | Homo sapiens | Africa | NegPyg | 16 | Khwe | aa:10;ac:3;cc:3 | 0.28 |
| 43 | Nama | Homo sapiens | Africa | NegPyg | 20 | Nama | aa:7;ac:12;cc:1 | 0.35 |
| 44 | SEBantu | Homo sapiens | Africa | NegPyg | 20 | SEBantu | aa:11;ac:8;cc:1 | 0.25 |
| 45 | SWBantu | Homo sapiens | Africa | NegPyg | 12 | SWBantu | aa:6;ac:6;cc:0 | 0.25 |
| 46 | XunD | Homo sapiens | Africa | NegPyg | 19 | XunD | aa:3;ac:10;cc:6 | 0.58 |
| 47 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:6;ac:23;cc:70 | 0.82 |
| 48 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | aa:8;ac:38;cc:61 | 0.75 |
| 49 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | aa:8;ac:34;cc:57 | 0.75 |
| 50 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | aa:4;ac:28;cc:59 | 0.80 |
| 51 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | aa:7;ac:38;cc:62 | 0.76 |
| 52 | CEU | Homo sapiens | WestEurasia | HapMap | 164 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:9;ac:43;cc:112 | 0.81 |
| 53 | TSI | Homo sapiens | WestEurasia | HapMap | 101 | Toscani in Italia | aa:7;ac:40;cc:54 | 0.73 |
| 54 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | aa:0;ac:1;cc:1 | 0.75 |
| 55 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | aa:0;ac:0;cc:2 | 1.00 |
| 56 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | aa:0;ac:1;cc:0 | 0.50 |
| 57 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | aa:0;ac:1;cc:1 | 0.75 |
| 58 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | aa:0;ac:0;cc:2 | 1.00 |
| 59 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | aa:0;ac:2;cc:0 | 0.50 |
| 60 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | aa:0;ac:0;cc:2 | 1.00 |
| 61 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | aa:1;ac:0;cc:1 | 0.50 |
| 62 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | aa:0;ac:0;cc:1 | 1.00 |
| 63 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | aa:0;ac:2;cc:0 | 0.50 |
| 64 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | aa:0;ac:1;cc:0 | 0.50 |
| 65 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | aa:0;ac:2;cc:0 | 0.50 |
| 66 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | aa:0;ac:1;cc:1 | 0.75 |
| 67 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | aa:0;ac:0;cc:2 | 1.00 |
| 68 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | aa:0;ac:1;cc:2 | 0.83 |
| 69 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | aa:0;ac:1;cc:2 | 0.83 |
| 70 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | aa:1;ac:0;cc:1 | 0.50 |
| 71 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | aa:0;ac:1;cc:1 | 0.75 |
| 72 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | aa:1;ac:0;cc:1 | 0.50 |
| 73 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | aa:1;ac:0;cc:1 | 0.50 |
| 74 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | aa:0;ac:0;cc:2 | 1.00 |
| 75 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | aa:0;ac:2;cc:0 | 0.50 |
| 76 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | aa:1;ac:2;cc:0 | 0.33 |
| 77 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | aa:0;ac:1;cc:1 | 0.75 |
| 78 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | aa:0;ac:0;cc:2 | 1.00 |
| 79 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | aa:0;ac:0;cc:1 | 1.00 |
| 80 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | aa:0;ac:0;cc:2 | 1.00 |
| 81 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | aa:0;ac:0;cc:1 | 1.00 |
| 82 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | aa:0;ac:1;cc:1 | 0.75 |
| 83 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | aa:0;ac:1;cc:1 | 0.75 |
| 84 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | aa:1;ac:0;cc:0 | 0.00 |
| 85 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | aa:0;ac:2;cc:1 | 0.67 |
| 86 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | aa:1;ac:1;cc:0 | 0.25 |
| 87 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | aa:1;ac:0;cc:1 | 0.50 |
| 88 | CanaryIslands | Homo sapiens | WestEurasia | NegPyg | 17 | CanaryIslands | aa:2;ac:9;cc:6 | 0.62 |
| 89 | SpainBASC | Homo sapiens | WestEurasia | NegPyg | 20 | SpainBASC | aa:1;ac:5;cc:14 | 0.83 |
| 90 | SpainNW | Homo sapiens | WestEurasia | NegPyg | 17 | SpainNW | aa:3;ac:6;cc:8 | 0.65 |
| 91 | SpainS | Homo sapiens | WestEurasia | NegPyg | 17 | SpainS | aa:1;ac:8;cc:8 | 0.71 |
| 92 | Tunisia | Homo sapiens | WestEurasia | NegPyg | 18 | Tunisia | aa:1;ac:6;cc:11 | 0.78 |
| 93 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,737 | Finnish | aa:136;ac:642;cc: 959 | 0.74 |
| 94 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,292 | Estonian | aa:101;ac:755;cc: 1436 | 0.79 |
| 95 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,293 | North-Western European | aa:226;ac:1521;cc:2546 | 0.77 |
| 96 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,069 | Other non-Finnish European | aa:67;ac:403;cc:599 | 0.75 |
| 97 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 53 | Southern European | aa:5;ac:21;cc:27 | 0.71 |
附表5
rs8096471在西非及西欧人群中的等位基因频率分布"
| No. | Population | Species | Ancestry | Dataset | Individual No. | Desc. | Genotype count | Alternative allele frequency |
|---|---|---|---|---|---|---|---|---|
| 1 | ACB | Homo sapiens | Africa | 1KG_phase3 | 96 | African Caribbeans in Barbados | aa:15;ag:48;gg:33 | 0.59 |
| 2 | ASW | Homo sapiens | Africa | 1KG_phase3 | 61 | Americans of African Ancestry in SW USA | aa:5;ag:26;gg:30 | 0.70 |
| 3 | GWD | Homo sapiens | Africa | 1KG_phase3 | 113 | Gambian in Western Divisions in the Gambia | aa:27;ag:64;gg:22 | 0.48 |
| 4 | ESN | Homo sapiens | Africa | 1KG_phase3 | 99 | Esan in Nigeria | aa:15;ag:49;gg:35 | 0.60 |
| 5 | LWK | Homo sapiens | Africa | 1KG_phase3 | 99 | Luhya in Webuye, Kenya | aa:20;ag:50;gg:29 | 0.55 |
| 6 | MSL | Homo sapiens | Africa | 1KG_phase3 | 85 | Mende in Sierra Leone | aa:26;ag:45;gg:14 | 0.43 |
| 7 | YRI | Homo sapiens | Africa | 1KG_phase3 | 108 | Yoruba in Ibadan, Nigeria | aa:22;ag:53;gg:33 | 0.55 |
| 8 | ASW | Homo sapiens | Africa | HapMap | 87 | Americans of African Ancestry in SW USA | aa:12;ag:38;gg:37 | 0.64 |
| 9 | LWK | Homo sapiens | Africa | HapMap | 109 | Luhya in Webuye, Kenya | aa:20;ag:52;gg:37 | 0.58 |
| 10 | MKK | Homo sapiens | Africa | HapMap | 183 | Maasai in Kinyawa,  Kenya | aa:33;ag:91;gg:59 | 0.57 |
| 11 | YRI | Homo sapiens | Africa | HapMap | 199 | Yoruba in Ibadan, Nigeria | aa:41;ag:97;gg:61 | 0.55 |
| 12 | BantuKenya | Homo sapiens | Africa | HGDP | 11 | Bantu in Kenya | aa:2;ag:7;gg:2 | 0.50 |
| 13 | BantuSouthAfrica | Homo sapiens | Africa | HGDP | 8 | Bantu in SouthAfrica | aa:4;ag:2;gg:2 | 0.38 |
| 14 | BiakaPygmy | Homo sapiens | Africa | HGDP | 21 | BiakaPygmy | aa:1;ag:10;gg:10 | 0.71 |
| 15 | Mandenka | Homo sapiens | Africa | HGDP | 22 | Mandenka | aa:6;ag:12;gg:4 | 0.45 |
| 16 | MbutiPygmy | Homo sapiens | Africa | HGDP | 13 | MbutiPygmy | aa:1;ag:6;gg:6 | 0.69 |
| 17 | Mozabite | Homo sapiens | Africa | HGDP | 27 | Mozabite | aa:2;ag:7;gg:18 | 0.80 |
| 18 | San | Homo sapiens | Africa | HGDP | 5 | San | aa:0;ag:0;gg:5 | 1.00 |
| 19 | Yoruba | Homo sapiens | Africa | HGDP | 21 | Yoruba | aa:3;ag:12;gg:6 | 0.57 |
| 20 | BantuHerero | Homo sapiens | Africa | SGDP | 2 | BantuHerero | aa:2;ag:0;gg:0 | 0.00 |
| 21 | BantuKenya | Homo sapiens | Africa | SGDP | 2 | BantuKenya | aa:0;ag:0;gg:2 | 1.00 |
| 22 | BantuTswana | Homo sapiens | Africa | SGDP | 2 | BantuTswana | aa:1;ag:0;gg:1 | 0.50 |
| 23 | Biaka | Homo sapiens | Africa | SGDP | 2 | Biaka | aa:0;ag:2;gg:0 | 0.50 |
| 24 | Dinka | Homo sapiens | Africa | SGDP | 3 | Dinka | aa:2;ag:0;gg:1 | 0.33 |
| 25 | Esan | Homo sapiens | Africa | SGDP | 2 | Esan | aa:1;ag:1;gg:0 | 0.25 |
| 26 | Gambian | Homo sapiens | Africa | SGDP | 2 | Gambian | aa:1;ag:1;gg:0 | 0.25 |
| 27 | Ju_hoan_North | Homo sapiens | Africa | SGDP | 4 | Ju_hoan_North | aa:0;ag:1;gg:3 | 0.88 |
| 28 | Khomani_San | Homo sapiens | Africa | SGDP | 2 | Khomani_San | aa:0;ag:0;gg:2 | 1.00 |
| 29 | Luhya | Homo sapiens | Africa | SGDP | 2 | Luhya | aa:0;ag:1;gg:1 | 0.75 |
| 30 | Luo | Homo sapiens | Africa | SGDP | 2 | Luo | aa:0;ag:1;gg:1 | 0.75 |
| 31 | Mandenka | Homo sapiens | Africa | SGDP | 3 | Mandenka | aa:0;ag:2;gg:1 | 0.67 |
| 32 | Masai | Homo sapiens | Africa | SGDP | 2 | Masai | aa:0;ag:1;gg:1 | 0.75 |
| 33 | Mbuti | Homo sapiens | Africa | SGDP | 4 | Mbuti | aa:0;ag:2;gg:2 | 0.75 |
| 34 | Mende | Homo sapiens | Africa | SGDP | 2 | Mende | aa:0;ag:1;gg:1 | 0.75 |
| 35 | Mozabite | Homo sapiens | Africa | SGDP | 2 | Mozabite | aa:0;ag:1;gg:1 | 0.75 |
| 36 | Saharawi | Homo sapiens | Africa | SGDP | 2 | Saharawi | aa:0;ag:2;gg:0 | 0.50 |
| 37 | Somali | Homo sapiens | Africa | SGDP | 1 | Somali | aa:0;ag:0;gg:1 | 1.00 |
| 38 | Baka_Cameroon | Homo sapiens | Africa | NegPyg | 58 | Baka_Cameroon | aa:7;ag:31;gg:20 | 0.61 |
| 39 | Baka_Gabon | Homo sapiens | Africa | NegPyg | 16 | Baka_Gabon | aa:2;ag:4;gg:10 | 0.75 |
| 40 | Bakiga | Homo sapiens | Africa | NegPyg | 35 | Bakiga | aa:5;ag:19;gg:11 | 0.59 |
| 41 | Batwa | Homo sapiens | Africa | NegPyg | 32 | Batwa | aa:1;ag:17;gg:14 | 0.70 |
| 42 | Bongo_Gabon_East | Homo sapiens | Africa | NegPyg | 22 | Bongo_Gabon_ East | aa:4;ag:12;gg:6 | 0.55 |
| 43 | Bongo_Gabon_South | Homo sapiens | Africa | NegPyg | 24 | Bongo_Gabon_ South | aa:3;ag:14;gg:7 | 0.58 |
| 44 | Nzebi_Gabon | Homo sapiens | Africa | NegPyg | 20 | Nzebi_Gabon | aa:4;ag:7;gg:9 | 0.63 |
| 45 | Nzime_Cameroon | Homo sapiens | Africa | NegPyg | 53 | Nzime_Cameroon | aa:11;ag:28;gg:14 | 0.53 |
| 46 | BiakaPygmy | Homo sapiens | Africa | NegPyg | 21 | BiakaPygmy | aa:1;ag:10;gg:10 | 0.71 |
| 47 | MbutiPygmy | Homo sapiens | Africa | NegPyg | 13 | MbutiPygmy | aa:1;ag:6;gg:6 | 0.69 |
| 48 | ColouredColesberg | Homo sapiens | Africa | NegPyg | 20 | ColouredColesberg | aa:1;ag:3;gg:16 | 0.88 |
| 49 | ColouredWellington | Homo sapiens | Africa | NegPyg | 20 | ColouredWellington | aa:1;ag:7;gg:12 | 0.78 |
| 50 | GuiGhanaKgal | Homo sapiens | Africa | NegPyg | 11 | GuiGhanaKgal | aa:1;ag:5;gg:5 | 0.68 |
| 51 | Juhoansi | Homo sapiens | Africa | NegPyg | 18 | Juhoansi | aa:0;ag:3;gg:15 | 0.92 |
| 52 | Karretjie | Homo sapiens | Africa | NegPyg | 20 | Karretjie | aa:1;ag:4;gg:15 | 0.85 |
| 53 | Khomani | Homo sapiens | Africa | NegPyg | 38 | Khomani | aa:1;ag:10;gg:27 | 0.84 |
| 54 | Khwe | Homo sapiens | Africa | NegPyg | 16 | Khwe | aa:2;ag:7;gg:7 | 0.66 |
| 55 | Nama | Homo sapiens | Africa | NegPyg | 20 | Nama | aa:0;ag:8;gg:12 | 0.80 |
| 56 | SEBantu | Homo sapiens | Africa | NegPyg | 20 | SEBantu | aa:5;ag:12;gg:3 | 0.45 |
| 57 | SWBantu | Homo sapiens | Africa | NegPyg | 12 | SWBantu | aa:3;ag:2;gg:7 | 0.67 |
| 58 | XunD | Homo sapiens | Africa | NegPyg | 19 | XunD | aa:0;ag:5;gg:14 | 0.87 |
| 59 | amaXhosa | Homo sapiens | Africa | NegPyg | 15 | amaXhosa | aa:4;ag:2;gg:9 | 0.67 |
| 60 | Basters | Homo sapiens | Africa | NegPyg | 30 | Basters | aa:0;ag:8;gg:22 | 0.87 |
| 61 | ColouredD6 | Homo sapiens | Africa | NegPyg | 8 | ColouredD6 | aa:0;ag:1;gg:7 | 0.94 |
| 62 | ColouredEC | Homo sapiens | Africa | NegPyg | 7 | ColouredEC | aa:0;ag:2;gg:5 | 0.86 |
| 63 | ColouredNC | Homo sapiens | Africa | NegPyg | 10 | ColouredNC | aa:0;ag:3;gg:7 | 0.85 |
| 64 | Juhoan | Homo sapiens | Africa | NegPyg | 19 | Juhoan | aa:0;ag:6;gg:13 | 0.84 |
| 65 | Xun | Homo sapiens | Africa | NegPyg | 10 | Xun | aa:0;ag:2;gg:8 | 0.90 |
| 66 | XunV | Homo sapiens | Africa | NegPyg | 4 | XunV | aa:0;ag:1;gg:3 | 0.88 |
| 67 | CEU | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:0;ag:11;gg:88 | 0.94 |
| 68 | IBS | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Iberian Population in Spain | aa:0;ag:18;gg:89 | 0.92 |
| 69 | FIN | Homo sapiens | WestEurasia | 1KG_phase3 | 99 | Finnish in Finland | aa:2;ag:22;gg:75 | 0.87 |
| 70 | GBR | Homo sapiens | WestEurasia | 1KG_phase3 | 91 | British in England and Scotland | aa:0;ag:9;gg:82 | 0.95 |
| 71 | TSI | Homo sapiens | WestEurasia | 1KG_phase3 | 107 | Toscani in Italia | aa:0;ag:9;gg:98 | 0.96 |
| 72 | CEU | Homo sapiens | WestEurasia | HapMap | 164 | Utah Residents (CEPH) with Northern and Western European Ancestry | aa:0;ag:23;gg:141 | 0.93 |
| 73 | TSI | Homo sapiens | WestEurasia | HapMap | 102 | Toscani in Italia | aa:0;ag:9;gg:93 | 0.96 |
| 74 | Basque | Homo sapiens | WestEurasia | HGDP | 24 | Basque | aa:0;ag:2;gg:22 | 0.96 |
| 75 | Bedouin | Homo sapiens | WestEurasia | HGDP | 45 | Bedouin | aa:1;ag:11;gg:33 | 0.86 |
| 76 | Druze | Homo sapiens | WestEurasia | HGDP | 42 | Druze | aa:0;ag:13;gg:29 | 0.85 |
| 77 | French | Homo sapiens | WestEurasia | HGDP | 28 | French | aa:0;ag:2;gg:26 | 0.96 |
| 78 | Italian | Homo sapiens | WestEurasia | HGDP | 12 | Italian | aa:0;ag:0;gg:12 | 1.00 |
| 79 | Orcadian | Homo sapiens | WestEurasia | HGDP | 15 | Orcadian | aa:0;ag:1;gg:14 | 0.97 |
| 80 | Palestinian | Homo sapiens | WestEurasia | HGDP | 46 | Palestinian | aa:0;ag:4;gg:42 | 0.96 |
| 81 | Sardinian | Homo sapiens | WestEurasia | HGDP | 28 | Sardinian in Italy | aa:1;ag:3;gg:24 | 0.91 |
| 82 | Tuscan | Homo sapiens | WestEurasia | HGDP | 8 | Tuscan in Italy | aa:0;ag:1;gg:7 | 0.94 |
| 83 | Abkhasian | Homo sapiens | WestEurasia | SGDP | 2 | Abkhasian | aa:0;ag:0;gg:2 | 1.00 |
| 84 | Adygei | Homo sapiens | WestEurasia | SGDP | 2 | Adygei | aa:0;ag:0;gg:2 | 1.00 |
| 85 | Albanian | Homo sapiens | WestEurasia | SGDP | 1 | Albanian | aa:0;ag:0;gg:1 | 1.00 |
| 86 | Armenian | Homo sapiens | WestEurasia | SGDP | 2 | Armenian | aa:0;ag:0;gg:2 | 1.00 |
| 87 | Basque | Homo sapiens | WestEurasia | SGDP | 2 | Basque | aa:0;ag:0;gg:2 | 1.00 |
| 88 | BedouinB | Homo sapiens | WestEurasia | SGDP | 2 | BedouinB | aa:1;ag:0;gg:1 | 0.50 |
| 89 | Bergamo | Homo sapiens | WestEurasia | SGDP | 2 | Bergamo | aa:0;ag:0;gg:2 | 1.00 |
| 90 | Bulgarian | Homo sapiens | WestEurasia | SGDP | 2 | Bulgarian | aa:0;ag:0;gg:2 | 1.00 |
| 91 | Chechen | Homo sapiens | WestEurasia | SGDP | 1 | Chechen | aa:0;ag:0;gg:1 | 1.00 |
| 92 | Crete | Homo sapiens | WestEurasia | SGDP | 2 | Crete | aa:0;ag:1;gg:1 | 0.75 |
| 93 | Czech | Homo sapiens | WestEurasia | SGDP | 1 | Czech | aa:0;ag:0;gg:1 | 1.00 |
| 94 | Druze | Homo sapiens | WestEurasia | SGDP | 2 | Druze | aa:0;ag:1;gg:1 | 0.75 |
| 95 | English | Homo sapiens | WestEurasia | SGDP | 2 | English | aa:0;ag:1;gg:1 | 0.75 |
| 96 | Estonian | Homo sapiens | WestEurasia | SGDP | 2 | Estonian | aa:0;ag:0;gg:2 | 1.00 |
| 97 | Finnish | Homo sapiens | WestEurasia | SGDP | 3 | Finnish | aa:0;ag:0;gg:3 | 1.00 |
| 98 | French | Homo sapiens | WestEurasia | SGDP | 3 | French | aa:0;ag:1;gg:2 | 0.83 |
| 99 | Georgian | Homo sapiens | WestEurasia | SGDP | 2 | Georgian | aa:0;ag:1;gg:1 | 0.75 |
| 100 | Greek | Homo sapiens | WestEurasia | SGDP | 2 | Greek | aa:0;ag:0;gg:2 | 1.00 |
| 101 | Hungarian | Homo sapiens | WestEurasia | SGDP | 2 | Hungarian | aa:0;ag:0;gg:2 | 1.00 |
| 102 | Icelandic | Homo sapiens | WestEurasia | SGDP | 2 | Icelandic | aa:0;ag:1;gg:1 | 0.75 |
| 103 | Iranian | Homo sapiens | WestEurasia | SGDP | 2 | Iranian | aa:0;ag:0;gg:2 | 1.00 |
| 104 | Iraqi_Jew | Homo sapiens | WestEurasia | SGDP | 2 | Iraqi_Jew | aa:0;ag:0;gg:2 | 1.00 |
| 105 | Jordanian | Homo sapiens | WestEurasia | SGDP | 3 | Jordanian | aa:0;ag:1;gg:2 | 0.83 |
| 106 | Lezgin | Homo sapiens | WestEurasia | SGDP | 2 | Lezgin | aa:0;ag:0;gg:2 | 1.00 |
| 107 | North_Ossetian | Homo sapiens | WestEurasia | SGDP | 2 | North_Ossetian | aa:0;ag:0;gg:2 | 1.00 |
| 108 | Norwegian | Homo sapiens | WestEurasia | SGDP | 1 | Norwegian | aa:0;ag:0;gg:1 | 1.00 |
| 109 | Orcadian | Homo sapiens | WestEurasia | SGDP | 2 | Orcadian | aa:0;ag:1;gg:1 | 0.75 |
| 110 | Polish | Homo sapiens | WestEurasia | SGDP | 1 | Polish | aa:0;ag:0;gg:1 | 1.00 |
| 111 | Russian | Homo sapiens | WestEurasia | SGDP | 2 | Russian | aa:0;ag:0;gg:2 | 1.00 |
| 112 | Saami | Homo sapiens | WestEurasia | SGDP | 2 | Saami | aa:0;ag:0;gg:2 | 1.00 |
| 113 | Samaritan | Homo sapiens | WestEurasia | SGDP | 1 | Samaritan | aa:0;ag:0;gg:1 | 1.00 |
| 114 | Sardinian | Homo sapiens | WestEurasia | SGDP | 3 | Sardinian | aa:0;ag:0;gg:3 | 1.00 |
| 115 | Spanish | Homo sapiens | WestEurasia | SGDP | 2 | Spanish | aa:0;ag:0;gg:2 | 1.00 |
| 116 | Tajik | Homo sapiens | WestEurasia | SGDP | 2 | Tajik | aa:0;ag:1;gg:1 | 0.75 |
| 117 | fin | Homo sapiens | WestEurasia | gnomAD. genomes | 1,736 | Finnish | aa:22;ag:366;gg: 1348 | 0.88 |
| 118 | nfe_est | Homo sapiens | WestEurasia | gnomAD. genomes | 2,293 | Estonian | aa:7;ag:252;gg:2034 | 0.94 |
| 119 | nfe_nwe | Homo sapiens | WestEurasia | gnomAD. genomes | 4,298 | North-Western European | aa:23;ag:595;gg:3680 | 0.93 |
| 120 | nfe_onf | Homo sapiens | WestEurasia | gnomAD. genomes | 1,069 | Other non-Finnish European | aa:8;ag:133;gg:928 | 0.93 |
| 121 | nfe_seu | Homo sapiens | WestEurasia | gnomAD. genomes | 53 | Southern European | aa:0;ag:7;gg:46 | 0.93 |
| [1] |
Smith RJ, Jungers WL. Body mass in comparative primatology. J Hum Evol, 1997, 32(6): 523-559.
pmid: 9210017 |
| [2] | Fleagle JG, Baden AL, Gilbert CC. Primate adaptation and evolution. New York: Academic Press, 2024. |
| [3] |
Kamilar JM, Cooper N. Phylogenetic signal in primate behaviour, ecology and life history. Philos Trans R Soc Lond B Biol Sci, 2013, 368(1618): 20120341.
pmid: 23569289 |
| [4] | Isbell LA. Predation on primates: ecological patterns and evolutionary consequences. Evol Anthropol, 1994, 3(2): 61-71. |
| [5] | Koziowski J, Weiner J. Interspecific allometries are by- products of body size optimization. Am Nat, 1997, 149(2): 352-380. |
| [6] |
Salazar VS, Gamer LW, Rosen V. BMP signalling in skeletal development, disease and repair. Nat Rev Endocrinol, 2016, 12(4): 203-221.
pmid: 26893264 |
| [7] |
Zhang S, Fantozzi I, Tigno DD, Yi ES, Platoshyn O, Thistlethwaite PA, Kriett JM, Yung G, Rubin LJ, Yuan JX. Bone morphogenetic proteins induce apoptosis in human pulmonary vascular smooth muscle cells. Am J Physiol Lung Cell Mol Physiol, 2003, 285(3): L740-L754.
pmid: 12740218 |
| [8] |
Heubel B, Nohe A. The role of BMP signaling in osteoclast regulation. J Dev Biol, 2021, 9(3): 24.
pmid: 34203252 |
| [9] |
Morikawa Y, Zehir A, Maska E, Deng CX, Schneider MD, Mishina Y, Cserjesi P. BMP signaling regulates sympathetic nervous system development through Smad4-dependent and-independent pathways. Development, 2009, 136(21): 3575-3584.
pmid: 19793887 |
| [10] |
Clevers H. Wnt/β-catenin signaling in development and disease. Cell, 2006, 127(3): 469-480.
pmid: 17081971 |
| [11] |
Regard JB, Zhong ZD, Williams BO, Yang YZ. Wnt signaling in bone development and disease: making stronger bone with Wnts. Cold Spring Harb Perspect Biol, 2012, 4(12): a007997.
pmid: 23209148 |
| [12] |
Polakis P. Wnt signaling and cancer. Gene Dev, 2000, 14(15): 1837-1851.
pmid: 10921899 |
| [13] |
Macsai CE, Foster BK, Xian CJ. Roles of Wnt signalling in bone growth, remodelling, skeletal disorders and fracture repair. J Cell Physiol, 2008, 215(3): 578-587.
pmid: 18247365 |
| [14] |
Sun PC, Jiao BB, Yang YZ, Shan LX, Li T, Li XN, Xi ZX, Wang XY, Liu JQ. WGDI: a user-friendly toolkit for evolutionary analyses of whole-genome duplications and ancestral karyotypes. Mol Plant, 2022, 15(12): 1841-1851.
pmid: 36307977 |
| [15] | Andrews S. FastQC: a quality control tool for high throughput sequence data. Babraham Bioinformatics. https://www.bioinformatics.babraham.ac.uk/projects/fastqc/. Berlin, Germany, 2010. |
| [16] |
Bolger AM, Lohse M, Usadel B. Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics, 2014, 30(15): 2114-2120.
pmid: 24695404 |
| [17] |
Kim D, Langmead B, Salzberg SL. HISAT: a fast spliced aligner with low memory requirements. Nat Methods, 2015, 12(4): 357-360.
pmid: 25751142 |
| [18] |
Liao Y, Smyth GK, Shi W. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics, 2014, 30(7): 923-930.
pmid: 24227677 |
| [19] |
Smyth GK. Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol, 2004, 3: Article 3.
pmid: 16646809 |
| [20] |
Langfelder P, Horvath S. WGCNA: an R package for weighted correlation network analysis. BMC Bioinformatics, 2008, 9: 559.
pmid: 19114008 |
| [21] |
Yu GC, Wang LG, Han YY, He QY. clusterProfiler: an R package for comparing biological themes among gene clusters. OMICS, 2012, 16(5): 284-287.
pmid: 22455463 |
| [22] |
Kumar S, Tamura K, Nei M. MEGA: molecular evolutionary genetics analysis software for microcomputers. Comput Appl Biosci, 1994, 10(2): 189-191.
pmid: 8019868 |
| [23] |
Yang ZH. PAML 4: phylogenetic analysis by maximum likelihood. Mol Biol Evol, 2007, 24(8): 1586-1591.
pmid: 17483113 |
| [24] |
Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP. Gene set enrichment analysis: a knowledge-based approach for interpreting genome- wide expression profiles. Proc Natl Acad Sci USA, 2005, 102(43): 15545-15550.
pmid: 16199517 |
| [25] |
Lowery JW, Rosen V. The BMP pathway and its inhibitors in the skeleton. Physiol Rev, 2018, 98(4): 2431-2452.
pmid: 30156494 |
| [26] |
Wu MR, Chen GQ, Li YP. TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. Bone Res, 2016, 4: 16009.
pmid: 27563484 |
| [27] |
Vogler M. Targeting BCL2-proteins for the treatment of solid tumours. Adv Med, 2014, 2014: 943648.
pmid: 26556430 |
| [28] |
Devi K, Shanmugarajan TS. Therapeutic potential of plant metabolites in bone apoptosis: a review. Curr Drug Targets, 2023, 24(11): 857-869.
pmid: 37526458 |
| [29] |
Trisciuoglio D, Iervolino A, Zupi G, Del Bufalo D. Involvement of PI3K and MAPK signaling in Bcl-2- induced vascular endothelial growth factor expression in melanoma cells. Mol Biol Cell, 2005, 16(9): 4153-4162.
pmid: 15987743 |
| [30] |
Ampuja M, Jokimäki R, Juuti-Uusitalo K, Rodriguez- Martinez A, Alarmo EL, Kallioniemi A. BMP4 inhibits the proliferation of breast cancer cells and induces an MMP-dependent migratory phenotype in MDA-MB-231 cells in 3D environmen. BMC Cancer, 2013, 13: 429.
pmid: 24053318 |
| [31] |
Zhao XD, Sun Q, Dou CW, Chen QX, Liu BH. BMP4 inhibits glioblastoma invasion by promoting E-cadherin and claudin expression. Front Biosci (Landmark Ed), 2019, 24(6): 1060-1070.
pmid: 30844730 |
| [32] |
Li XH, Peng J, Wu MX, Ye HZ, Zheng CS, Wu GW, Xu HF, Chen XZ, Liu XX. BMP2 promotes chondrocyte proliferation via the Wnt/β-catenin signaling pathway. Mol Med Rep, 2011, 4(4): 621-626.
pmid: 21503577 |
| [33] |
Zhou N, Li Q, Lin X, Hu N, Liao JY, Lin LB, Zhao C, Hu ZM, Liang X, Xu W, Chen H, Huang W. BMP2 induces chondrogenic differentiation, osteogenic differentiation and endochondral ossification in stem cells. Cell Tissue Res, 2016, 366(1): 101-111.
pmid: 27083447 |
| [34] |
Wang NS, Unkila MT, Reineks EZ, Distelhorst CW. Transient expression of wild-type or mitochondrially targeted Bcl-2 induces apoptosis, whereas transient expression of endoplasmic reticulum-targeted Bcl-2 is protective against Bax-induced cell death. J Biol Chem, 2001, 276(47): 44117-44128.
pmid: 11546793 |
| [35] |
Zuo JH, Ishikawa T, Boutros S, Xiao ZQ, Humtsoe JO, Kramer RH. Bcl-2 overexpression induces a partial epithelial to mesenchymal transition and promotes squamous carcinoma cell invasion and metastasis. Mol Cancer Res, 2010, 8(2): 170-182.
pmid: 20145039 |
| [36] |
Ito T, Hotta T. Overexpression of Bcl-2 suppresses apoptotic cell death of the human leukemic cell line TF-1. Nihon Rinsho, 1996, 54(7): 1815-1821.
pmid: 8741672 |
| [1] | 何锐, 郑秀娟, 王宁宁, 李旭颖, 李明其, 辇士晶, 王克维. 基于生物信息学识别肝细胞癌中的PANoptosis相关lncRNAs并构建预后模型[J]. 遗传, 2025, 47(4): 456-475. |
| [2] | 古丽米热·阿布都热依木, 陈莹, 唐淑红, 董红, 汪立芹, 吴阳升, 黄俊成, 林嘉鹏. Mfn2减轻内质网应激抑制绵羊卵泡颗粒细胞凋亡的分子机制[J]. 遗传, 2025, 47(3): 342-350. |
| [3] | 杨剑, 石国娟, 彭昂惠, 徐清波, 王睿琪, 薛雷, 喻昕阳, 孙艺昊. Tip60-FOXO调节果蝇JNK信号通路介导的细胞凋亡【已撤稿】[J]. 遗传, 2024, 46(6): 490-501. |
| [4] | 王翠玲, 刘信燚, 王亚会, 张争, 王治东, 周钢桥. MCM2通过抑制p53信号通路促进胆管癌细胞的增殖、迁移和侵袭[J]. 遗传, 2022, 44(3): 230-244. |
| [5] | 秦中勇, 石晓, 曹平平, 褚鹰, 管蔚, 杨楠, 程禾, 孙玉洁. 细胞凋亡反应中NOXA基因启动子发挥增强子功能调节BCL2基因表达[J]. 遗传, 2020, 42(11): 1110-1121. |
| [6] | 余同露,蔡栋梁,朱根凤,叶晓娟,闵太善,陈红岩,卢大儒,陈浩明. CSN4基因干扰对乳腺癌MDA-MB-231细胞增殖和凋亡的影响[J]. 遗传, 2019, 41(4): 318-326. |
| [7] | 常建忠, 闫凤霞, 乔麟轶, 郑军, 张福耀, 柳青山. 高粱SBP-box基因家族全基因组鉴定及表达分析[J]. 遗传, 2016, 38(6): 569-580. |
| [8] | 马建辉, 仝豆豆, 张文利, 张黛静, 邵云, 杨云, 姜丽娜. 乌拉尔图小麦NAC转录因子的筛选与分析[J]. 遗传, 2016, 38(3): 243-253. |
| [9] | 马建江, 王诺菡, 吴嫚, 裴文锋, 王文魁, 李兴丽, 张金发, 喻树迅, 于霁雯. 雷蒙德氏棉和亚洲棉基因组数据中LPAAT基因家族的发掘及其同源基因在陆地棉材料中的表达分析[J]. 遗传, 2015, 37(7): 692-701. |
| [10] | 赵建元,丁寄葳,米泽云,周金明,魏涛,岑山. HIV-1初始传播病毒Vpr基因遗传变异对诱导G2期阻滞及细胞凋亡的影响[J]. 遗传, 2015, 37(5): 480-486. |
| [11] | 毕丹,徐扬,逄越,李庆伟. 质膜组分磷脂酰丝氨酸外翻的分子调控机制[J]. 遗传, 2015, 37(2): 140-147. |
| [12] | 张毓婷, 王敏华, 陈家栋, 戎均康, 丁明全. 雷蒙德氏棉HSP70基因家族的进化分析及其同源基因在陆地棉中的表达分析[J]. 遗传, 2014, 36(9): 921-933. |
| [13] | 张蕾, 隋御, 王婷, 李利坚, 李元杰, 金彩霞, 徐方. hMMS2基因对结肠癌细胞耐药逆转的影响[J]. 遗传, 2014, 36(4): 346-353. |
| [14] | 张昕,姜华,王艳丽,张震,毛雪琴,柴荣耀,邱海萍,杜新法,王教瑜,孙国昌. 真菌类过氧化物酶体增殖因子PEX11基因家族生物信息学研究[J]. 遗传, 2012, 34(5): 635-646. |
| [15] | 张永科,陈争,范安,张亚男,武艳平,赵倩君,周璨林,毛新民,藏玉亮,叶尔哈孜·扎尔胡马尔,哈森别克·马力克,哈布德力·达拉拜依,卡马力亚·托塔哈孜,梁玲,古力努尔·叶尔肯,马月辉,饶绍奇. 新疆阿勒泰地区图瓦人与邻近人群遗传关系初探[J]. 遗传, 2009, 31(8): 818-824. |
| 阅读次数 | ||||||
|
全文 |
|
|||||
|
摘要 |
|
|||||
www.chinagene.cn
备案号:京ICP备09063187号-4
总访问:,今日访问:,当前在线:
