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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 investigate the association of R577X polymorphism of ACTN3 gene with lipid level in elderly Chinese Han population. Methods This study was based on the Aging Sub-cohort of the Rugao Longevity and Aging Study (RuLAS). Genotyping using the Taqman MGB method. Serum lipids were measured as total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol , LDL-C), the cut point according to NCEP ATPIII standard. By covariance analysis and Logistic regression analysis, R577X polymorphism sites and the relationship between dyslipidemia. Results A total of 1 618 samples (741 males and 877 females) were enrolled in this study. Covariance analysis showed that there were significant differences in the levels of TC and LDL-C between RR, RX, and XX genotypes in women (TC: 5.13,5.29,5.43 mmol / L, P = 0.004; LDL-C: 2.88, 3.00 mmol / L, P = 0.004). There was a significant difference in TG levels (1.34,1.43,1.37 mmol / L) between RR, RX and XX genotypes in the general population (P = 0.024). Logistic regression analysis showed that there was a significant association between the increase of copy number of X allele and the level of TC and the abnormal increase of LDL-C in the general population and in women. The total population TC: OR = 1.184, 95% CI 1.030-1.361, P = 0.018; The total population LDL-C: OR = 1.332, 95% CI 1.101-1.588, P = 0.003; Female TC: OR = 1.334, 95% CI 1.102-1.616, P = 0.003; OR = 1.549, 95% CI 1.208-1.986, P = 0.001. After adjusting for other covariates, the above association is still significant. Conclusion The R577X polymorphism of ACTN3 gene is associated with plasma TC and LDL-C levels in the Han female population in Rugao.