广西红水河流域壮族长寿家系子女ACAT1 rs1044925基因多态性与血脂水平的相关性

摘要

目的 探讨广西红水河流域壮族长寿家系子女胆固醇酰基转移酶1(ACAT1) rs1044925多态性与血脂水平的相关性.方法 在广西红水河流域收集长寿家系健康第1代子女473例和第2代子女311例,以及同一区域内健康非长寿家系为对照组分别是346例和213例,采用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)方法对ACAT1多态性位点rs1044925进行基因分型,结合总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白(HDL)、低密度脂蛋白(LDL)等临床指标,分析rs1044925多态性对血脂水平的影响.结果 长寿家系子女组和对照组的等位基因和基因型频率差异无统计学意义(P均＞0.05)；长寿家系子女收缩压和LDL水平高于对照组(P均＜0.05),分层后第1代子女收缩压、TC、TG、LDL水平和第2代子女LDL水平均高于对照组(P均＜0.05)；长寿子女及分层后第2代子女C等位基因携带者比不携带者有更高的TC水平(P＜0.05),非长寿第1代子女中C等位基因携带者比不携带者有更高的HDL水平(P＜0.05).结论 ACAT1 rs1044925基因多态性与广西红水河流域壮族长寿家系无明显的相关性,但可能通过影响血脂水平进而影响其寿命.%Objective To investigate the relationship between the rs1044925 polymorphism on Acyl-coenzyme A:cholesterol acyltransferase-1 (ACAT-1) gene and serum lipid levels of longevity's offspring in Guangxi Hongshuihe river basin.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 473 longevity's first offspring (aged 51-72) and 311 second offspring (aged 31-50),346 and 243 ethnicity matched healthy controls (aged 51-72 and 31-50) residing in Hongshuihe river basin,northwest Guangxi Province.Association analysis 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 There was no significant difference in genotypic and allelic frequencies of rs1044925 forlongevity's offspring and controls (P ＞ 0.05).All longevity's offspring had the higher systolic blood pressure and TG level (P ＜ 0.05),then systolic blood pressure,TC,TG,LDL levels were higher in longevity's first offspring and only LDL level was higher in the second longevity's offpring,compared with controls (P ＜ 0.05) ; in longevity's first offspring and the second offspring,allele C carriers had a higher TG level than non-C carriers (P ＜ 0.05).In controls,allele C carriers had a higher HDL level than non-C carriers (P ＜ 0.05).Conclusions There was no direct correlation between ACAT-1rs1044925 polymorphism and longevity in longevity's offspring in Guangxi Hongshuihe river basin,but it may affect lipid levels to influence the human life.