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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 association between cholesterol acyltransferase 1 (ACAT1) rs1044925 polymorphism in children with Zhuang longevity pedigree and blood lipid level in Hongshuihe watershed of Guangxi. Methods A total of 473 healthy first-generation children and 311 second-generation children of longevity pedigrees were collected from Hongshuihe watershed in Guangxi. The healthy non-longevous families in the same region were 346 and 213 healthy controls, respectively. Polymerase chain reaction- The polymorphism site rs1044925 of ACAT1 was genotyped by restriction fragment length polymorphism (PCR-RFLP). The genotypes of rs1044925 were analyzed with the combination of total cholesterol (TC), triglyceride (TG), high density lipoprotein Lipoprotein (LDL) and other clinical indicators, analysis of rs1044925 polymorphisms on blood lipid levels. Results There was no significant difference in the allele and genotype frequency between the longevity pedigree children and the control group (P> 0.05). The systolic blood pressure and LDL level in children with longevity were higher than those in the control group (all P <0.05) The systolic blood pressure, TC, TG, LDL level and LDL level in the second generation of children in the first generation were higher than those in the control group (all P <0.05). The ratio of C allele in longevity children and the second generation of children after stratification Carriers had higher TC levels (P <0.05), and those with C alleles in non-longevity first-generation children had higher HDL levels than non-carriers (P <0.05). Conclusion There is no significant correlation between ACAT1 rs1044925 gene polymorphism and Zhuang longevity pedigrees in Hongshui River waters of Guangxi Zhuang Autonomous Region. However, it may affect its life span by affecting blood lipid level.