PNPLA2基因多态性与中国汉族2型糖尿病患者缺血性脑卒中的相关性研究

Association between the polymorphism of PNPLA2 gene and the risk of ischemic stroke in type 2 diabetic patients in Chinese Han Population

目的:探讨脂肪甘油三酯脂酶基因PNPLA2 rs1138693(T>C,L481P)多态性与中国汉族人群2型糖尿病患者缺血性脑卒中发生风险的相关性。方法:病例对照研究共纳入368例中国2型糖尿病(type 2 diabetes mellitus,T2DM)患者(139例T2DM缺血性脑卒中患者和229例T2DM非缺血性脑卒中患者作为对照组),利用Taqman探针实时聚合酶链式反应TaqMan MGB Real-time PCR对PNPLA2 rs1138693(T>C)进行基因分型,并采用SPSS 20.0进行统计分析。结果:对照组和缺血性脑卒中组患者临床资料中的年龄、性别、血压和同型半胱氨酸水平存在统计学差异(P<0.05)。缺血性脑卒中组患者PNPLA2 rs1138693位点的CC基因型频率和C等位基因频率显著低于对照组(基因型频率:P=0.033;等位基因频率:P=0.011)。Logistic回归分析发现,在加性、显性和隐性遗传模型下,PNPLA2 rs1138693等位基因C是T2DM患者进展为缺血性脑卒中的保护因素(P<0.05)。结论:PNPLA2 rs1138693基因多态性与中国T2DM患者发生缺血性脑卒中的易感性有关,携带rs1138693 C等位基因的T2DM患者更不容易进展为缺血性脑卒中。

AIM:To investigate the association between the polymorphism of the fatty triglyceride lipase gene(PNPLA2)rs1138693(T>C)and the risk of ischemic stroke in type 2 diabetic patients in China.METHODS:A total of 368 Chinese patients with type 2 diabetes mellitus(T2DM)(139 T2DM ischemic stroke patients and 229 T2DM non-ischemic stroke patients were included as the control group)were included in this case-control study.PNPLA2 rs1138693(T>C)was genotyped by real-time polymerase chain reaction(PCR)and statistically analyzed by SPSS 20.0.RESULTS:Significant differences were observed in age,sex,blood pressure and homocysteine levels between the control group and the ischemic stroke group(P<0.05).The CC genotype frequency and C allele frequency of PNPLA2 rs1138693 in the ischemic stroke group were significantly lower than those in the control group(genotype frequency:P=0.033;allele frequency:P=0.011).Logistic regression analysis revealed that allele C of PNPLA2 rs1138693 was a protective factor for progression to ischemic stroke in T2DM patients under the additive,dominant and recessive genetic models(P<0.05).CONCLUSION:The PNPLA2 gene rs1138693 is related to the susceptibility of Chinese T2DM patients to ischemic stroke,and the T2DM patients with allele C of rs1138693 are less likely to develop ischemic stroke.