亚甲基四氢叶酸还原酶基因多态与河南汉族人群缺血性脑血管病的相关性

目的 研究亚甲基四氢叶酸还原酶(MTHFR)2个常见位点的突变与缺血性脑血管病发病的相关性.方法 选取病例组470例,对照组495名,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术和TaqMan-MGB探针分型方法进行基因分型.结果 病例组C677T突变的T等位基因突变频率为61.9%,对照组为45.1%,两组相比较差异有统计学意义(X~2=55.089,P＜0.01,OR=1.983,95%CI 1.653～2.378);病例组与对照组C677T多态基因型频率CC、CT、TT型分别为16.6%、43.0%、40.4%及36.6%、36.8%、26.7%,两组间比较CT型(X~2=3.882,P＜0.05,OR=1.296,95% CI 1.001～1.678),TT型(X~2=20.527,P＜0.01,OR=1.866,95%CI 1.423～2.448)分布差异均有统计学意义.病例组与对照组A1298C突变的C等位基因突变频率分别为13.1%和11.2%,基因型频率AA、AC、CC型分别为75.3%、23.2%、1.5%及78.2%、21.2%、0.6%,两组相比A1298C多态的等位基因频率和基因分型的差异均无统计学意义.结论 C677T突变与缺血性脑血管病的发生显著相关,可能是预测河南汉族人群缺血性脑血管病的风险因子,A1298C突变与河南汉族人群缺血性脑血管病无关.

Association between polymorphisms in methylenetetrahydrofolate reductase and ischemic cerebrovascular disease in Chinese Han population in Henan province

Objective To explore the correlation between the two common polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) and ischemic cerebrovascular disease (ICVD).Methods This study included 470 cases with ICVD (patient group) and 495 healthy subjects (control group) matched for age and sex.Genotypes of MTHFR C677T and A1298C were detected using polymerase chain reactionrestriction fragment length polymorphism(PCR-RFLP) and TaqMan minor groove binding (MGB) probes genotyping respectively.Results T allele frequency of C677T polymorphism in the patients was 61.9%,significantly different from frequency of 45.1% in the controls (X~2=55.089,P ＜ 0.01,OR=1.983,95%CI 1.653-2.378).The frequencies of CC,CT,TT genotype in the patient group and the controls were 16.6%,43.0%,40.4% and 36.6%,36.8%,26.7%,respectively.Between patient and control groups,a statistically significant difference was observed in CT genotype (X~2=3.882,P ＜0.05,OR=1.296,95%CI 1.001-1.678) and in TT genotype (X~2=20.527,P ＜0.01,OR=1.866,95% CI 1.423-2.448).In the patient and control groups,frequency of C allele in A1298C polymorphisms was 13.1% and 11.2%,respectively,and the frequencies of AA,AC,CC genotypes were 75.3%,23.2%,1.5% and 78.2%,21.2%,0.6%,respectively.No significant difference in C allele frequencies or genotype frequencies of A1298C polymorphism between patient and control groups was shown.Conclusions T allele in MTHFR C677T is significantly associated with an increased risk of ICVD.This variant may be a predictive risk factor of ICVD in Han population in Henan province.A1298C doesn't show an association with ICVD in Henan Han population.