目的：探讨陕西地区汉族人群中，核因子E2相关因子2(Nrf2)基因多态性与糖尿病视网膜病变(DR)的相关性。

方法：收集2016-01/2017-01在我院治疗的386例2型糖尿病(T2DM)患者分为无视网膜病变(DWR)组181例，增生期DR(PDR)组62例和非增生期DR(NPDR)组143例。另外，收集120例非糖尿病且无视网膜疾病的患者作为对照组。采用聚合酶链反应(PCR)联合DNA直接测序法检测Nrf2基因启动子rs6721961位点单核苷酸多态性。

结果： DWR组与对照组比较，rs6721961位点基因型和等位基因分布频率均无差异(P>0.05)； PDR组和NPDR组分别与对照组和DWR组比较，突变纯合子(AA基因型)和突变基因(A等位基因)分布频率差异均有统计学意义(P<0.05)。PDR组和NPDR组比较，基因型和等位基因分布频率均无差异(P>0.05)。Logistic多因素回归分析结果显示rs6721961位点A等位基因与DR发生相关(OR=1.532， 95%CI ：1.169～2.008， P=0.014)。

结论： Nrf2基因多态性可能与DR遗传易感性相关。

METHODS: Totally 386 patients with type 2 diabetes mellitus(T2DM)who hospitalized in our hospital from January 2016 to January 2017 were recruited to participate in the study, they were divided into diabetic without retinopathy(DWR)group(181 cases), proliferative diabetic retinopathy(PDR)group(62 cases)and non-proliferative diabetic retinopathy(NPDR)group(143 cses). Meanwhile, 120 healthy volunteers without DR were recruited to participate in the study as the control group. Genotype was determined by polymerase chain reaction-restriction fragment length polymorphism combined with DNA direct sequencing technique for the polymorphism of the Nrf2 gene.

RESULTS: There was no significant difference of genotype and allele distribution of rs6721961 polymorphism between the DWR group and control group, neither PDR group and NPDR group(P>0.05). PDR group and NPDR group were compared with control group and DWR group respectively, the genotype and allele distribution of Nrf2 polymorphism were significantly different(P<0.05). Multivariable logistic regression analysis showed that A allele(OR=1.532, 95%CI 1.169-2.008, P=0.014)distribution of rs6721961 polymorphism were associated with risk of DR.

CONCLUSION: Polymorphism of the Nrf2 gene may associate with the risk of DR.