Association between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia
Received date: 2013-02-18
Revised date: 2013-05-15
Online published: 2013-08-25
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.
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(Beijing), 2013 , 35(8) : 992 -998 . DOI: 10.3724/SP.J.1005.2013.00992
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