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

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

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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

Abstract

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

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

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