北京社区老年人周围动脉闭塞性疾病与基因多态性的关系

Relationship between MTHFR gene polymorphism and peripheral arterial occlusive disease

目的探讨北京社区老年人群亚甲基四氢叶酸还原酶(methylenetetrahydrofolatereductase,MTHFR)基因多态性与周围动脉闭塞性疾病(peripheralarterialocclusivedisease,PAOD)的关系,为临床治疗及早期康复干预提供理论基础。方法用聚合酶链反应-限制性片段长度多态性(polymerasechainreaction-restrictionfragmentlengthpoly-morphism,PCR-RFLP)技术,检测了83例(男28例,女55例)老年PAOD及100例(男50例,女50例)健康老年对照的MTHFR基因多态性。结果MTHFR基因C677T单核苷酸突变呈多态性,分为3种类型:C/C,C/T,T/T。老年PAOD病例组3种基因型频率为:C/C,13.3%;C/T,51.8%;T/T,34.9%。健康老年对照组分别为:C/C,31%;C/T,50%;T/T,19%。两组MTHFR基因的C677T单核苷酸突变中T突变位点的频率分别为60.8%、44%。病例组与对照组T/T基因型频率和T等位基因频率均呈显著性差异。结论在北京社区老年人群中,MTHFR等位基因C677T突变可能是老年PAOD的危险因素。

Aim To explore the relationship between Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and peripheral arterial occlusive disease (PAOD) in the elderly of Beijing community as the theoretical basis for clinical treatment and early rehabilitation.Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was carried out to detect the MTHFR gene polymorphism among 83 cases of PAOD, 28 males and 55 females, aged 60- 86 years old (POAD group), and 100 health controls, 50 males and 50 females, aged 60- 81 years old (NC group). Results The frequencies of three genotypes: C/C (homozygous normal ), C/T ( heterozygous ) and T/T ( homozygous mutant ) were 13.3% , 51.8% and 34.9% in the POAD group, and 31% , 50% and 19% in the NC group respectively. The frequencies of allele T were 44% ; 60.8% respectively in the two groups. The frequencies of homozygous T/T and allele T in the POAD group were significantly higher than those in the NC group.Conclusion C677T mutation in MTHFR gene is associated with the risk to peripheral arterial occlusive disease in the elderly of Beijing community.