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目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点的多态性与广西红水河流域长寿人群的血脂水平及长寿的关系。方法应用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)方法对505例该流域90岁以上壮族长寿老人(长寿组)、普通健康壮族中老年人468例(非长寿组)进行基因分型,并检测血压、体质指数、血脂(TC、TG、HDL、LDL)等指标。结果长寿组和对照组C、T等位基因频率分别为80.2%、19.8%和85.0%、15.0%;两组3种基因型(CC、CT、TT)频率分别为65.5%、29.3%、5.2%和73.9%、22.2%、3.8%;等位基因及基因型频率在两组间差异显著,且有T等位基因在长寿组女性中富集现象,而男性中无此趋势。在血脂水平上除HDL外,长寿组的TC、TG、LDL水平显著高于非长寿组(P<0.01)。进一步按MTHFR C677T基因型和性别分层后发现,长寿组中女性突变基因型(CT/TT)的TC、TG及LDL水平明显高于非突变基因型(CC);而男性各血脂水平分别在两组3种基因型间未发现有明显差异。结论 MTHFR基因C677T位点的多态性与血脂水平及长寿有一定的关系,并呈性别特异性,可能是红水河流域长寿现象的分子遗传学基础之一。
Objective To investigate the relationship between polymorphism of C677T gene of methylenetetrahydrofolate reductase (MTHFR) gene and lipid level and longevity of longevity population in Hongshui River basin of Guangxi. Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze 505 cases of Zhuhai longevity elderly (Changshou group) over 90 years old and 468 elderly (non-longevity group) Genotypes were detected and blood pressure, body mass index, blood lipids (TC, TG, HDL, LDL) were measured. Results The frequencies of C and T alleles were 80.2%, 19.8%, 85.0% and 15.0% in the longevity group and the control group respectively. The frequencies of CC, CT and TT in the two groups were 65.5%, 29.3% and 5.2% %, 73.9%, 22.2% and 3.8% respectively. The frequencies of alleles and genotypes were significantly different between the two groups, and the T allele was enriched in the longevity group, but no in males. The level of TC, TG and LDL in longevity group was significantly higher than that in non-longevity group (P <0.01). Further stratification by MTHFR C677T genotype and sex found that the TC, TG and LDL levels of the female mutant genotypes (CT / TT) in the longevity group were significantly higher than those in the non-mutant genotypes (CC) There was no significant difference between the three genotypes in the two groups. Conclusion The C677T polymorphism of MTHFR gene has a certain relationship with blood lipid level and longevity, and is sex-specific, which may be one of the molecular genetic basis of longevity in the Hongshui River Basin.