Nrf2基因多态性与高原地区藏族人群POAG易感性的关系

Relationship between Nrf2 gene polymorphism and POAG susceptibility in Tibetan population at high altitude

目的探讨核转录因子2相关因子2(Nrf2)基因多态性与高原地区藏族人群原发性开角型青光眼(POAG)易感性的关系。方法采用回顾性研究设计,选取2016-06~2018-08高原地区本院确诊的藏族POAG患者97例患者作为POAG组,另选取同期年龄、性别匹配的体检健康者103例作为对照组,运用聚合酶链式反应-限制性片段长度多态性方法(PCR-RELP)检测所有研究对象Nrf2基因位点rs10497511、rs1962142、rs2364722、rs6721961基因多态性,通过logistic二元回归分析位点基因多态性与高原地区藏族人群POAG易感性的关系。结果Hardy-Weinberg平衡定律显示,对照组与POAG组各基因型的期望值和观察值符合Hardy-Weinberg平衡定律(均P>0.05)。POAG患者与正常人基因多态性位点rs10497511、rs2364722、rs6721961基因型及等位基因频率差异无统计学意义(P>0.05);与对照组相比,POAG组患者TT基因型频率显著降低(P<0.05),TC、CC基因型频率显著升高(P<0.05),T等位基因频率显著下降(P<0.05),C等位基因频率显著升高(P<0.05);二元logistic回归分析显示Nrf2基因多态性位点rs1962142 TC、CC型是发生POAG的危险因素(OR=2.726,2.298,均P<0.05)。结论Nrf2基因多态性位点rs1962142的多态性与高原地区藏族人群POAG易感性有关。

Objective To investigate the relationship between polymorphism of nuclear transcription factor 2-related factor 2(Nrf2)gene and susceptibility to primary open-angle glaucoma(POAG)in Tibetan population at high altitude.Methods A retrospective study was performed in this study.A total of 97 patients with POAG diagnosed in our hospital from June 2016 to August 2018 were selected as POAG group,and another 103 healthy subjects matched by age and sex in the same period were selected as control group.Polymorphism of Nrf2 loci rs10497511,rs1962142,rs2364722 and rs6721961 was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RELP),and the relationship between POAG susceptibility and genetic polymorphism was analyzed by logistic binary regression analysis.Results The expected and observed values of genotypes in control group and POAG group were in accordance with Hardy-Weinberg equilibrium law(P>0.05).There was no significant difference in genotype and allele frequencies of rs10497511,rs2364722,rs6721961 between POAG patients and normal controls(P>0.05).Compared with control group,TT genotype frequency was significantly decreased in POAG group(P<0.05),TC and CC genotype frequencies were significantly decreased(P<0.05),T allele frequency was significantly increased(P<0.05),and C allele frequency was significantly decreased(P<0.05).Bivariate logistic regression analysis showed that the polymorphic loci rs1962142 TC and CC of Nrf2 gene were risk factors for POAG(OR=2.726,2.298,all P<0.05).Conclusion The polymorphism of rs1962142 is associated with POAG susceptibility in Tibetan population at high altitude.