MKL1基因多态性与高原环境适应性的遗传关联研究
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张晴,平杰,张昊翔,康波,李元丰,周钢桥
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Genetic association of MKL1 gene polymorphisms with the high-altitude adaptation
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Zhang Qing,Ping Jie,Zhang Haoxiang,Kang Bo, ,Zhou Gangqiao
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表4 在藏族和gnomAD数据库的5个人群中rs59098711位点的基因型和等位基因型的频率分布 |
Table 4 Distributions of the genotypes and alleles frequencies of rs59098711 in Tibetan population and five populations from gnomAD |
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| 基因型 | 等位基因型 | CC | TC | TT | C | T | 藏族[例(%)] | 237(39.83) | 253(42.52) | 105(17.65) | 727(61.09) | 463(38.91) | 东亚[例(%)] | 79(10.17) | 356(45.82) | 342(44.01) | 514(33.08) | 1040(66.92) | 欧洲[例(%)] | 526(5.60) | 3185(33.88) | 5689(60.52) | 4237(22.54) | 14563(77.46) | 非洲[例(%)] | 230(5.32) | 1,592(36.86) | 2498(57.82) | 2052(23.75) | 6588(76.25) | 拉丁美洲[例(%)] | 7(1.66) | 110(26.13) | 304(72.21) | 124(14.73) | 718(85.27) | 德系犹太人[例(%)] | 11(7.59) | 48(33.10) | 86(59.31) | 70(24.14) | 220(75.86) | | 基因型 | 等位基因型 | CC | TC | TT | C | T | 藏族vs.东亚 | | | | | | OR(95% CI) | | 4.22(3.15~5.66) | 9.77(7.10~13.44) | | 3.18(2.72~3.71) | χ2 | | 92.14 | 196.53 | | 212.41 | P | | 8.07×10-22 | 1.19×10-44 | | 4.09×10-48 | 藏族vs.欧洲 | | | | | | OR(95% CI) | | 5.67(4.71~6.82) | 24.41(20.31~29.34) | | 5.40(4.83~6.03) | χ2 | | 338.18 | 1160.80 | | 889.20 | P | | 1.59×10-75 | 1.99×10-254 | | 2.18×10-195 | 藏族vs.非洲 | | | | | | OR(95% CI) | | 6.48(5.25~8.00) | 24.51(19.82~30.33) | | 5.04(4.48~5.67) | χ2 | | 303.86 | 868.23 | | 717.41 | P | | 4.76×10-68 | 7.93×10-191 | | 4.90×10-158 | 藏族vs.拉丁美洲 | | | | | | OR(95% CI) | | 14.72(7.80~27.79) | 98.02(58.84~163.31) | | 9.09(7.39~11.19) | χ2 | | 68.83 | 310.00 | | 433.60 | P | | 1.07×10-16 | 2.18×10-69 | | 2.67×10-96 | 藏族vs.德系犹太人 | | | | | | OR(95% CI) | | 4.09(2.12~7.89) | 17.65(10.08~30.89) | | 4.93(3.74~6.52) | χ2 | | 17.6 | 100.93 | | 126.65 | P | | 2.72×10-5 | 9.52×10-24 | | 2.22×10-29 |
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