亚甲基四氢叶酸还原酶基因多态性与原发性高血压伴周围动脉闭塞性疾病的易感性

Methylenetetrahydrofolate reductase gene polymorphism and susceptibility to peripheral arterial occlusive disease in hypertensive patients

目的 探讨北京万寿路社区老年人群亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase ,MTHFR)基因多态性与原发性高血压 (essentialhypertension ,EH)及EH伴周围动脉闭塞性疾病 (peripheralarterialocclusivedisease ,PAOD)的易感性。方法 用聚合酶链反应 限制性片段长度多态性技术 ,检测了 10 0例健康老年人 (NC组 )、10 0例老年EH(EH组 )及 5 9例老年EH伴PAOD患者 (EH PAOD组 )的MTHFR基因多态性。结果 MTHFR等位基因呈多态性。NC组 3种基因型频率为 :CC ,31.0 % ;CT ,5 0 .0 % ;TT ,19.0 %。EH组分别为 :CC ,2 9.0 % ;CT ,4 5 .0 % ;TT ,2 6 .0 %。EH PAOD组分别为 :CC ,15 .9% ;CT ,35 .5 % ;TT ,4 8.6 %。 3组MTHFR基因的C6 77T单核苷酸突变中T突变位点的频率分别为 4 4 .0 %、4 8.5 %、6 4 .4 %。EH PAOD组与NC组、EH PAOD组与EH组比较TT基因型频率和T等位基因频率均呈显著性差异。结论 MTHFR基因C6 77T单核苷酸突变是老年EH伴PAOD的危险因素之一 ,但可能与老年EH无关。

Objective To explore the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the susceptibility to peripheral arterial occlusive disease in hypertensive patients.Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was used to examine the polymorphism of MTHFR gene in 100 control subjects (NC group),100 patients with essential hypertension (EH group) and 59 patients with essential hypertension and peripheral arterial occlusive disease(EH POAD group).Results The frequencies of three genotypes were CC (homozygous normal)31.0%,CT (heterozygous)50.0% and TT (homozygous mutant)19.0% in NC group;29.0%,45.0% and 26.0% in EH group and 15.9%,35.5% and 48.6% in EH POAD group respectively.The frequencies of allele T were 44.0%,48.5% and 64.4% respectively.The frequencies of homozygous TT and allele T in EH POAD group were significantly higher than those in NC and EH groups.Conclusions C677T mutation in MTHFR gene is associated with the susceptibility to peripheral arterial occlusive disease in essential hypertension patients.