目的:探讨ACAT-1 rs1044925基因多态性与广西红水河流域长寿人群血脂水平的相关性.方法:在广西红水河流域收集长寿组(年龄≥90岁)505例,以及同一区域内健康老年人(年龄在60~80岁)468例,采用PCR-RFLP方法对ACAT-1rs1044925进行基因分型,结合BMI、血压、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白(HDL)、低密度脂蛋白(LDL)等指标,分析rs1044925基因多态性对血脂水平的影响.结果:长寿组和非长寿组的基因型(AA,AC,CC)频率分别是:76.43%,22.38%,1.19%和79.06%,19.66%,1.28%,两组间基因型频率分布差异无统计学意义(x2=1.084,P=0.581).两组等位基因A,C的频率分别是87.62%,12.38%和88.89%,11.11%,两组间等位基因频率分布差异亦无统计学意义(x2=0.749,P=0.387).非长寿组中C等位基因携带者的TG水平低于非携带者(P=0.005).结论:ACAT-1 rs1044925基因多态性与广西红水河流域的长寿无明显的相关性;长寿人群中该基因多态性与血脂水平的关系未发现有相关性.
Objective:Aim to investigate the plausible relationship between the rs1044925 polymorphism on Acyl-coenzyme A:cholesterol acyltransferase-1 (ACAT-1) gene and serum lipid levels and long longevity in the long-lived population dwelling alongsidethe Hongshuihe River in Guangxi area.Methods:Polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) and DNA sequencing were used to examine the genotype of rs1044925 locus on ACAT-1 gene for 505 long-lived subjects (aged 90 and above,longevity group,LG) and 468 ethnicity matched healthy controls (aged 60~80,non-longevity group,nonLG) residing in Hongshuihe River Basin,northwest Guangxi Province.Association analyses were then undertaken between rs1044925 genotypes and serum levels including total cholesterol (TC),triglyceride (TG),high density lipoprotein (HDL),and low density lipoprotein (LDL).Results:The genotypic (AA,AC,CC) and allelic (A,C) frequencies of rs1044925 for LG and non-LG were 76.43%,22.38%,1.19% versus 79.06%,19.66%,1.28% and 87.62%,12.38% versus 88.89%,11.11%,respectively,revealing no significant difference on genotype and allele distributions between the two tested groups (P =0.581 and P =0.387,respectively).In LG,no significant diversity in lipid profiles was observed among the three genotypes; however,in non-LG,allele C carriers (genotype AC/CC) showed a lower TG as compared to non-C carriers (i.e.genotype AA) (P =0.005).Conclusion:No direct correlation between ACAT-1 rs1044925 polymorphism and longevity was detected in the long-lived population in Guangxi Hongshuihe River Basin,But the non longevity in the group of C allele carriers by the low TG levels canreduce the incidence of cardiovascular and cerebrovascular diseases,thus affecting the individual life.