中文摘要：

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。

英文摘要：

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 S equenom 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.