ACTN3基因R577X多态性与如皋地区汉族老年人群血脂水平的关联研究

Association between ACTN3 gene R577X polymorphism and blood lipid levels in an elderly Chinese Han population in Rugao,China

目的探讨中国汉族老年人群中ACTN3基因R577X多态性位点与血脂水平的关联。方法本研究基于如皋长寿及衰老队列研究(Rugao Longevity and Ageing Study,RuLAS)的衰老子队列人群。基因分型采用Taqman MGB方法。血脂检测指标为总胆固醇(total cholesterol,TC)、三酰甘油(triglyceride,TG)、高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)、低密度脂蛋白胆固醇(low-density lipoprotein cholesterol,LDL-C),其切点依据NCEP ATPIII标准。通过协方差分析和Logistic回归分析,探究R577X多态性位点与血脂异常之间的关联。结果本研究共纳入1 618例样本(男性741例,女性877例)。协方差分析发现:在女性中RR、RX、XX基因型间TC和LDL-C水平差异均有统计学意义(TC:5.13、5.29、5.43 mmol/L,P=0.004;LDL-C:2.76、2.88、3.00mmol/L,P=0.004);在总人群中RR、RX、XX基因型间TG水平(1.34、1.43、1.37 mmol/L)差异有统计学意义(P=0.024)。Logistic回归分析发现,在总人群和女性中X等位基因的拷贝数增加与TC水平和LDL-C水平异常升高具有显著关联,总人群TC:OR=1.184,95%CI为1.030~1.361,P=0.018;总人群LDL-C:OR=1.332,95%CI为1.101~1.588,P=0.003;女性TC:OR=1.334,95%CI为1.102~1.616,P=0.003;女性LDL-C:OR=1.549,95%CI为1.208~1.986,P=0.001。调整其他协变量之后,以上关联仍然显著。结论在如皋地区汉族女性老年人群中,ACTN3基因R577X多态性与血浆TC、LDL-C水平相关。

Objective To explore the association between ACTN3 gene R577X polymorphism and serum lipid levels in an elderly Chinese Han population. Methods This study was based on the ageing arm of The Rugao Longevity and Ageing Study （RuLAS）. Genotyping was performed by Taqman MGB method.Lipids includedtotal cholesterol （TC）, triglyceride （TG）, high-density lipoprotein cholesterol （HDL-C） and low-density lipoprotein cholesterol （LDL-C）. Cut points of dyslipidemia were based on that reported in the NCEP ATPIII. We explored the associations between R577X polymorphism loci and dyslipidemia by using analysis of covariance and logistic regression analysis. Results Overall 1 618 samples was included （741 males and 877 females） in this study. Covariance analysis found that TC level of RR, XX and RX genotype in the general population were 1.34, 1.37, 1.43 mmol/L with an increasing trend （P=0.024）; TC and LDL-C levels of RR, XX and RX genotype （TC： 5.13, 5.29, 5.43 mmol/L, P=0.004; LDL-C： 2.76, 2.88, 3.00 mmol/L, P=0.004） were significantly different in females. Logistic regression analysis showed that the increased copies of X allele were significantly associated with increased TC and LDL-C levels in the general population and females. For the general population, TC： OR=1.184, 95%CI： 1.030-1.361, P=0.018; LDL-C：OR=1.334, 95%CI：1.101-1.588, P=0.003; For females, TC： OR=1.332, 95% CI： 1.102-1.616, P=0.003; LDL-C： OR=1.549, 95%CI： 1.208-1.986, P=0.001. After adjusting for other covariates, the above associations remained significant. Conclusions ACTN3 gene R577X polymorphism is associated with plasma TC and LDL-C levels in elderly woman of Han populations in Rugao, China.