对氧磷酶2基因C311S多态性与2型糖尿病合并缺血性脑卒中的相关性

目的 探讨对氧磷酶2(paraoxonase 2，PON2)基因多态性与2型糖尿病(type 2 diabetes mellitus，T2DM)患者合并缺血性脑卒中(ischemic stroke，IS)的关系。方法 用聚合酶链反应—限制性片段长度多态性分析法探查PON2基因C311S多态性在T2DM合并IS组、T2DM无IS组以及正常对照组的基因频率。结果 发现中国人存在PON2基因C311S多态性，C／S等位基因频率为0．145／0．855。T2DM合并IS组患者PON2基因的C等位基因频率显著高于T2DM无IS组和正常对照组，差异有显著性(P＜0．05)。结论 中国人2型糖尿病患者PON2基因第311位密码子的多态性与并发缺血性脑卒中有关，C等位基因是2型糖尿病并发缺血性脑卒中的危险因素之一。

The association of paraoxonase 2 gene C311S variant with ischemic stroke in Chinese type 2 diabetes mellitus patients

OBJECTIVE: To investigate the association between the C311S polymorphism of paraoxonase 2 (PON2) gene and ischemic stroke in Chinese type 2 diabetes mellitus (T2DM) patients. METHODS: A case-control study of 279 Chinese subjects (including 162 T2DM with or without ischemic stroke and 117 non-diabetic control) was performed. Genotype frequencies of C311S polymorphism were studied by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis with DdeI digestion. RESULTS: C311S polymorphism of PON2 gene was detected in Chinese with the C/S allele frequencies 0.145 and 0.855. The frequency distribution showed significant difference between Chinese and Asian Indian. Furthermore, the genotype distribution (SS, CS and CC) of the PON2 C311S gene polymorphism exhibited a significant difference between T2DM patients complicated with ischemic stroke and T2DM without ischemic stroke, the former had a significantly higher C allele frequency(P<0.05). CONCLUSION: The above data indicate that the polymorphism at codon 311(Cys --> Ser)in the PON2 gene is associated with ischemic morbidity in Chinese T2DM patients and C allele might be a risk factor.