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目的探讨中国汉族人群中Nrf2基因多态性与急性高原病(AMS)易感性的关系。方法采用巢式病例研究方法,以603名急进3700 m高原的中国汉族青年男性为研究对象,根据路易斯湖评分系统(LLSS)分为病例组(n=369)和对照组(n=234),采用Sequenom Mass Array质谱阵列技术检测两组人群Nrf2基因位点rs10497511和rs2364722的基因多态性。结果病例组与对照组中rs10497511和rs2364722位点分别检测出T、C和A、G等位基因;两位点等位基因频率在两组间差异无统计学意义(P>0.05)。进一步对2个位点的基因型共显性模型、显性模型和隐性模型分析也未提示差异有统计学意义(P>0.05)。结论 Nrf2基因rs10497511和rs2364722位点多态性与中国汉族男性人群AMS发病可能无相关性。
Objective To investigate the relationship between Nrf2 gene polymorphism and susceptibility to acute mountain sickness (AMS) in Chinese Han population. Methods A nested case study was conducted in 603 Han Chinese young men who entered the 3700 m plateau, and were divided into two groups according to the Lake Louise Scoring System (LLSS): case group (n = 369) and control group (n = 234) Sequenom Mass Array was used to detect the gene polymorphisms of rs10497511 and rs2364722 at Nrf2 locus in both groups. Results The T, C, A and G alleles were detected in rs10497511 and rs2364722 in the case and control groups respectively. There was no significant difference in allele frequencies between the two groups (P> 0.05). Further analysis of genotype co-dominant, dominance and recessive models at 2 loci did not indicate any significant difference (P> 0.05). Conclusion The polymorphisms of rs10497511 and rs2364722 of Nrf2 gene may not be associated with the incidence of AMS in Han Chinese male population.