title: [Association between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia].
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.
authors: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences Peking Union Medical College, Kunming 650118, China E-mail: liqian_km@sina.com.
authors: Qian
authors: Q
authors: Li
authors: Shu-Yuan
authors: SY
authors: Liu
authors: Ke-Qin
authors: KQ
authors: Lin
authors: Hao
authors: H
authors: Sun
authors: Liang
authors: L
authors: Yu
authors: Xiao-Qin
authors: XQ
authors: Huang
authors: Jia-You
authors: JY
authors: Chu
authors: Zhao-Qing
authors: ZQ
authors: Yang
mesh_terms: D000064:Acclimatization / Q000235:genetics; D000222:Adaptation, Physiological / Q000235:genetics; D000531:Altitude; D000532:Altitude Sickness / Q000235:genetics; D005838:Genotype; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D020641:Polymorphism, Single Nucleotide
chemical_list: D064799:Hypoxia-Inducible Factor-Proline Dioxygenases