目的观察广西红水河流域长寿人群胆固醇酯转移蛋白(CETP)TaqIB基因的多态性,并探讨其基因型与该地区血脂水平和长寿的关系。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523例广西红水河流域90岁以上壮族长寿老人(长寿组)和498名普通健康壮族中老年人(对照组)进行基因分型,并检测血压、体质量、身高、体质量指数、CH、TG、HDL、LDL等指标。结果研究人群中CETPTaq1B的基因型频率分别为B18138.49%,B18249.95%,B28211.56%,等位基因频率分别为B163.47%、B236.53%。两组CETP基因Taq1B位点的3种基因型及等位基因频率的分布无明显差异(P〉0.05);长寿组CH、HDL、LDL水平显著高于对照组(P〈0.05);长寿组基因型为B282和B1B2的HDL水平均明显高于基因型为B181者,长寿组B1B1携带者的HDL水平及各种基因型的LDL水平显著高于对照组,而各基因型的TG水平则明显低于对照组(P均〈0.05)。结论CETPTaq1B的基因多态性与血脂水平关系密切,可能是红水河地区长寿的分子遗传学基础之一。
Objective To investigate the TaqIB polymorphism of the cholesterol ester transfer protein gene (CETP) and its possible association with lipid levels and longevity in Guangxi Hongshuihe River Basin. Methods The polymor-phism of CETPTaqIB locus was genotyped by polymerase chain reaction-restriction fragment length polymorphism ( PCR- RFLP), physical examinations including blood pressure, body weight, height, body weight index were performed and ser- um levels of total cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL), low density lipoprotein (LDL) levels were measured for 523 Zhuang long-lived inhabitants ( aged 90 and above, longevity group ) and 498 ethnicity matched healthy controls (aged 40-69, control group) residing in Hongshuihe River Basin. Results The overall allelic and genotypic frequencies of the cohorts studied were B1 63.47%, B2 36.53% , B1B1 38.49% , BIB2 49.95%, B2B2 11.56% , respectively. No difference in allelic and genotypic frequencies was found between the longevity group and control group ( P 〉 0.05 ). However, in lipid profiles, the levels of TC, HDL and LDL were significantly higher in the longevity group than those in the control group; the HDL levels of genotype B2B2 and B1B2 carriers were found remarkably higher than that of the B1 B1 carriers within the longevity group; the HDL level of B1 B1 carriers and the LDL level of all the three genotypes were greatly increased while the TG level of any genotype were reduced in the longevity group as compared with the control group. Conclusions The polymorphism of the CETP TaqIB locus is highly correlated with the lipid levels, which might be one of the genetic basis of longevity in the area of Guangxi Hongshuihe River Basin