中国南方汉族人群亚甲基四氢叶酸还原酶基因C677T多态性与脑出血的关系

摘要

目的 研究中国南方汉族人群亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与脑出血(ICH)的关系.方法 采用SNaPshot法检测中国南方地区汉族人群中124例ICH患者(ICH组)及149名健康对照者(正常对照组)MTHFR基因多态性.结果 与正常对照组比较,ICH组及非脑叶ICH亚组T等位基因频率显著升高(均P<0.05),ICH组、非脑叶ICH亚组C等位基因频率及脑叶出血亚组T、C等位基因频率差异无统计学意义(均P>0.05).ICH组、非脑叶ICH亚组、脑叶出血亚组和正常对照组的基因型频率差异无统计学意义(均P>0.05).多因素非条件Logistic回归分析显示,MTHFR基因C677T多态性与ICH组及其亚组无相关性(均P>0.05).经过混杂因素校正后,ICH及非脑叶出血与T等位基因显著相关(OR=3.77, 95%CI:1.40~10.16,P=0.01;OR=4.19,95%CI:1.30~13.46,P=0.02),脑叶出血与T等位基因不相关(OR=2.31,95%CI:0.37~14.49,P=0.37).结论 中国南方汉族人群MTHFR基因C677T位点T等位基因可能是ICH的重要危险因素.%Objective To explore the relationship between methylenetetrahydrofolate reductase(MTHFR)gene C677T position polymorphism and intracerebral hemorrhage(ICH)in southern Chinese Han population.Methods The MTHFR gene polymorphism were detected in 124 ICH patients(ICH group)and 149 control subjects(normal control group)who were southern Chinese Han population by SNaPshot technique.Results Compared with normal control group,the frequencies of T allele in ICH group and nonlobar ICH subgroup were significantly higher(all P<0.05);and there was no statistical significance of frequencies of C allele in ICH group and nonlobar ICH subgroup, and frequencies of T, C allele in lobar ICH subgroup(all P>0.05).There was no statistical significance of genotype frequency in ICH group, nonlobar ICH subgroup, lobar ICH subgroup and normal control group. Unconditional Logistic regression showed MTHFR gene C677T position polymorphism had no correlation with ICH group and its subgroup(all P>0.05).After confounding factors correction, ICH and nonlobar ICH subtype were significantly associated with T alleles(OR=3.77,95%CI:1.40-10.16,P=0.01;OR=4.19,95%CI:1.30-13.46,P=0.02),and lobar ICH subtype had no correlation with T allele(OR=2.31,95%CI:0.37-14.49,P=0.37).Conclusion MTHFR gene C677T position mutation T allele may be an important risk factor for ICH in the southern Chinese Han population.