EGLN1基因6个单核苷酸多态性与高海拔低氧适应的相关性

doi:10.3724/SP.J.1005.2013.00992

遗传 ›› 2013, Vol. 35 ›› Issue (8): 992-998.doi: 10.3724/SP.J.1005.2013.00992

EGLN1基因6个单核苷酸多态性与高海拔低氧适应的相关性

李骞, 刘舒媛, 林克勤, 孙浩, 于亮, 黄小琴, 褚嘉祐, 杨昭庆

中国医学科学院北京协和医学院医学生物学研究所, 昆明 650118

收稿日期:2013-02-18 修回日期:2013-05-15 出版日期:2013-08-20 发布日期:2013-08-25
通讯作者: 杨昭庆 E-mail:zyang@imbcams.com.cn
基金资助:
国家高技术研究发展计划(863计划)项目和国家自然科学基金面上项目(编号：2012AA021802)(编号：30971578)资助

Association between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia

LI Qian, LIU Shu-Yuan, LIN Ke-Qin, SUN Hao, YU Liang, HUANG Xiao-Qin, CHU Jia-You, YANG Zhao-Qing

Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China

Received:2013-02-18 Revised:2013-05-15 Online:2013-08-20 Published:2013-08-25

摘要/Abstract

摘要：

为了研究脯氨酰羟化酶2 (EGLN1或PHD2)基因5′UTR区和内含子区的单核苷酸多态性(SNP)与高海拔低氧适应的相关性, 文章使用Sequenom MassArray基因分型系统对152例西藏藏族(海拔3 650 m)和192例湖北汉族(海拔500 m) EGLN1基因的6个单核苷酸多态性位点(rs2066140、rs2808584、rs2491405、rs2486741、rs2486734和rs21533646)进行基因分型, 并进行单倍型构建和分析。结果发现：6个SNP位点的纯合子基因型在高海拔和低海拔群体间均具有统计学差异(P<0.05)。单倍型分析显示, 单倍型G-G(rs2066140和rs2808584)和G-C(rs2486741和rs2486734)的频率在高海拔群体中高于低海拔群体(P<0.05), 单倍型C-A(rs2066140和rs2808584)和C-T(rs2486741和rs2486734)的频率在高海拔群体中低于低海拔群体(P<0.05)。研究结果提示, EGLN1基因6个SNP位点的纯合子基因型和所构建的单倍型与高海拔低氧适应相关。

关键词: 高海拔低氧适应, 单核苷酸多态性, 脯氨酰羟化酶2, 单倍型

Abstract:

To investigate the association between SNPs located in 5′UTR and intron of prolyl hydroxylase 2 (EGLN1 or PHD2) and adaptation to high-altitude hypoxia, the SNPs (rs2066140, rs2808584, rs2491405, rs2486741, rs2486734 and rs21533646) of EGLN1 gene were genotyped using Sequenom MassArray genotyping system in 152 unrelated healthy Tibetan individuals (3 650 m altitude) and 192 Han (5 00 m altitude), and the haplotypes of these SNPs were constructed and analyzed. Our results showed all the homozygous genotypes of six SNPs loci were significantly different between the two groups (P<0.05). The frequencies of haplotypes G-G (rs2066140 and rs2808584) and G-C (rs2486741 and rs2486734) of high-altitude group were significantly different from low-altitude group (P<0.05). In addition, the frequencies of haplotypes C-A (rs2066140 and rs2808584) and C-T (rs2486741 and rs2486734) of high-altitude group were significantly lower than those in low-altitude group (P<0.05). Our results indicate that the polymorphism of homozygous genotype in six SNPs and their haplotypes were associated with adaptation to high-altitude hypoxia.

Key words: adaptation to high-altitude hypoxia, single nucleotide polymorphism, EGLN1 gene, haplotype

李骞刘舒媛林克勤孙浩于亮黄小琴褚嘉祐杨昭庆. EGLN1基因6个单核苷酸多态性与高海拔低氧适应的相关性[J]. 遗传, 2013, 35(8): 992-998.

LI Qian, LIU Shu-Yuan, LIN Ke-Qin, SUN Hao, YU Liang, HUANG Xiao-Qin, CHU Jia-You, YANG Zhao-Qing. Association between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia[J]. HEREDITAS, 2013, 35(8): 992-998.

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EGLN1基因6个单核苷酸多态性与高海拔低氧适应的相关性

Association between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia

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