Open AccessAssociation between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia
Author(s) -
Qian Li,
Shuyuan Liu,
Keqin Lin,
Hao Sun,
Liang Yu,
Xiao-qin Huang,
Jiayou Chu,
Zhaoqing Yang
Publication year - 2013
Publication title -
yichuan
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
H-Index - 16
ISSN - 0253-9772
DOI - 10.3724/sp.j.1005.2013.00992
Subject(s) - single nucleotide polymorphism , haplotype , genotype , genotyping , biology , genetics , effects of high altitude on humans , intron , altitude (triangle) , gene , polymorphism (computer science) , hypoxia (environmental) , allele , microbiology and biotechnology , chemistry , anatomy , geometry , mathematics , organic chemistry , oxygen
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.