缺血性脑血管病患者同型半胱氨酸代谢酶MTRR基因A66G及cystatin C基因G73A多态性检测

Polymorphisms of homocysteine metabolic enzyme gene MTRR and cystatin C gene with ischemic cerebrovascular disease

目的:探讨同型半胱氨酸代谢酶蛋氨酸合成酶还原酶基因(MTRR)A66G及半胱氨酸蛋白酶抑制剂C(cystatin C)基因G73A多态性与缺血性脑血管病(ICVD)的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测187例ICVD患者和122例正常对照者MTRRA66G和cystatin C G73A基因多态性。结果:MTRRA66G3种基因型及等位基因频率在病例组和对照组中的分布差异均有统计学意义(χ2=7.008,P=0.030;χ2=6.045,P=0.014),其中GG型在病例组的分布频率35.3%高于对照组的23.0%(χ2=5.314,P=0.021);cystatinC3种基因型及等位基因频率在病例组和对照组中的分布差异均无统计学意义(χ2=2.859,P=0.239;χ2=2.886,P=0.089)。结论:MTRRA66G基因多态性可能与ICVD相关;GG基因型可能是ICVD的易感基因型;cystatin C G73A基因多态性与ICVD发病无关。

Aim：To explore the relationship of homocysteine metabolic enzyme gene methionine synthase reductase（MTRR） A66G and cystatin C G73A gene polymorphism with ischemic cerebrovascular disease（ICVD）.Methods：Gene polymorphisms of MTRR A66G and cystatin C G73A were studied by polymerase chain reaction-restrictive fragment length polymorphism （PCR-RFLP） in 187 patients with ICVD and 122 healthy controls.Results：The differences of three kinds of MTRR genotype and allele frequency in cases and controls were statistically significant（χ2=7.008,P=0.030;χ2=6.045,P=0.014）,The frequency of GG genotype was remarkably higher in ICVD group than that in the controls（35.3% vs. 23.0%,χ2=5.314,P=0.021）.There were no statistical differences in the CST3 genotype or allele frequencies between the cases and the controls（χ2=2.859,P=0.239;χ2=2.886,P=0.089）.Conclusion：There may be an association between MTRR A66G gene polymorphism and ICVD; MTRR A66G GG genotype may be a susceptible genotype of ICVD; while cystatin C G73A gene polymorphism has no distinct relation with ICVD.