亚甲基四氢叶酸还原酶基因多态性与高脂血症的关系

Study on the relationship between polymorphism of Methylenetetrahydrofolate reductase gene and hyperlipidemia

目的探讨MTHFR基因C677T位点多态性与高脂血症的关系。方法选取北京市海淀区122名高脂血症患者和90名血脂正常者分别作为病例组和对照组。对两组人群进行血脂谱主要指标测定,并采用PCR-RFLP方法进行MTHFR基因C677T位点多态性检测。结果高脂血症组和正常对照组T等位基因频率分别为0.54和0.38,差异有显著性(P<0.05)。CC、CT、TT 3种基因型分布的差异亦有显著性(P<0.05)。按血清TC和TG水平将高脂血症分为高胆固醇血症、高甘油三酯血症和混合型高脂血症3个亚组后发现高胆固醇血症组与对照组基因型和等位基因分布差异仍有显著性(P<0.05)。结论MTHFR基因C677T位点多态性可能与高胆固醇血症相关,T等位基因可能是高胆固醇血症的危险因素。

Objective To investigate the relationship between MTHFR gene polymorphism and hyperlipidemia. Methods A total of 122 unrelated hyperlipidemic cases and 90 unrelated normolipidemic individuals were selected from Haidian District of Beijing. For the subjects, the serum lipids profiles were measured with the C677T polymorphism analyzed by using PCR-RFLP. Results The frequencies of C allele in hyperlipidemic and control group were 0.54 and 0.38, respectively. There was significant difference in genotype frequencies and allele frequencies of this polymorphism between hyperlipidemic and control group. When the hyperlipidemic subjects were divided into three subgroups （hyper- triglyceridemic, hypercholesterolemic, combined hyperlipidemic） according to lipid levels, there was still significant difference in genotype frequencies and allele frequencies between hypercholesterolemic subgroups and control group. Conclusions The study indicated that C677T genotypes were potentially related with hypercholesterolemic, T allele may be a new risk factor for hypercholesterolemia.