MTHFR C667T等位点基因多态性与CHD发病的关系

摘要

Objective To investigate the relationship between gene polymorphisms of methylenetetrahydrofolate reduc -tase(MTHFR)C667T locus and the coronary artery disease(CHD).Methods Ninety-four CHD patients(CHD group) and 94 healthy volunteers(control group)were selected.We compared the systolic blood pressure(SBP),diastolic blood pressure(DBP),serum cholesterol(TC),triglyceride(TG),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),apolipoprotein A(apoA), and apolipoprotein B(apoB).RT-PCR was used to detect and compare the genotype and allele frequencies of the two groups of MTHFR C 667T.Logistic regression analysis was used to analyze the risk factors of CHD.Results The CT genotype ratio of MTHFR C667T in the CHD group was higher than that of the control group(92.55%vs.76.60%,P<0.05),and the CC genotype ratio was lower than that of the control group(5.32%vs.19.15%,P<0.05).There was no significant difference in the allele frequency of C and T between the CHD group and control group(P>0.05).There was no significant difference in the levels of SBP,DBP, and apoB between the two groups(all P>0.05).Significant differences in the TC,TG,HDL-C,LDL-C,and apoA were found be-tween these two groups(all P<0.05).Multifactor Logistic regression analysis showed that genotype CT,the increased lev-els of TC,TG,LDL-C,and the decreased levels of LDL-C and apoA were the independent risk factors for CHD in the pop-ulation(all P<0.05).Conclusion The genotype CT of MTHFR C667T gene may be one of the genetic markers of ge-netic susceptibility in CHD patients,and it is also an independent risk factor for CHD.%目的 探讨亚甲基四氢叶酸还原酶(MTHFR)C667T等位点的基因多态性与冠心病(CHD)发病的关系.方法 选取CHD患者94例(CHD组)、另选取健康志愿者94例作为对照组,对比两组的收缩压(SBP)、舒张压(DBP)、血清胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白A(apoA)、载脂蛋白B(apoB).采用RT-PCR法检测并对比两组MTHFR C667T的基因型、等位基因频率,并采用Logistic回归分析方法分析CHD发病的危险因素.结果 CHD组患者的MTHFR C667T的CT基因型构成比高于对照组的(92.55%vs 76.60%,P<0.05),CC基因型构成比低于对照组的(5.32% vs 19.15%,P<0.05);CHD组和对照组的MTHFR C667T位点等位基因C、T频率差异均无统计学意义(P均>0.05);两组SBP、DBP及apoB水平差异均无统计学意义(P均>0.05);CHD组的TC、TG、HDL-C、LDL-C、apoA与对照组比较,差异均有统计学意义(P均<0.05).经多因素Logistic回归分析示TC、TG、LDL-C水平升高、基因型为CT、LDL-C、apoA水平降低是人群发生CHD的独立危险因素(P均<0.05).结论 MTHFR C667T等位点基因中CT型基因型可能是CHD患者遗传易感性基因标志之一,是人群发生CHD的独立危险因素.