目的探讨半胱氨酸蛋白酶抑制因子Cystain C基因Rs2897119(-177C/T)与中国河南汉族人缺血性脑血管病的关系。方法运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法 ,对185例缺血性脑血管病组(包括血栓性脑梗死、腔隙性脑梗死和短暂性脑缺血发作)和111例对照组进行Cystain C基因Rs2897119(-177C/T)多态性检测。结果病例组中Cystain C Rs2897119(-177C/T)基因型频率T/T、C/C、C/T分别为2.2%、81.6%、16.2%,T、C等位基因频率分别为10.3%、89.7%;对照组中Rs2897119基因型频率T/T、C/C、C/T分别为3.6%、79.3%、17.1%,T、C等位基因频率则分别为12.2%、87.8%。2组中Cystain C基因Rs2897119(-177C/T)野生型T/T与纯合子突变型C/C基因型频率差异无统计学意义(χ2=0.575,P=0.448),野生型T/T与杂合子突变型C/C基因型频率差异无统计学意义(χ2=0.360,P=0.549),2组中等位基因频率差异无统计学意义(χ2=0.508,P=0.476)。结论 CystainC基因Rs2897119(-177C/T)多态性可能与缺血性脑血管病没有明显关联,不是缺血性脑血管病的遗传影响因素。
Objective To explore the relationship between Cystain C gene Rs2897119(-177C/T) polymorphisms and ischemic cerebrovascular disease in Henan Han population.Methods Cystain C gene Rs2897119(-177C/T) polymorphism in 184 patients with ischemic cerebrovascular disease and 111 healthy subjects were detected using PCR-RFLP.Results In patient group,the frequencies of Cystain C gene Rs2897119(-177C/T)T/T,C/C,C/T genotypes were 2.2%,81.6% and 16.2%,T and C allele frequencies were 10.3%,89.7%.In control group,the frequencies of Cystain C gene Rs2897119(-177C/T)T/T,C/C,C/T genotypes were 3.6%,79.3% and 17.1%,T and C allele frequencies were 12.2%,87.8%.There was no significant difference in the frequencies of T/T and C/C genotypes between the two groups(χ2=0.575,P=0.448),and there was no significant difference in the frequencies of T/T and C/T genotypes between the two groups(χ2=0.360,P=0.549).There was no significant difference in the frequencies of alleles genotypes between the two groups(χ2=0.508,P=0.476).Conclusion Cystain C gene Rs2897119(-177C/T) polymorphism may not be an risk factor for ischemic cerebrovascular disease in Henan Han population.