正常中国人及内源性高甘油三酯血症患者酰基辅酶A：胆固醇酰基转移酶基因多态性的研究

Analysis of acyl-coenzyme A： cholesterol acyltransferase 1 polymorphism in patients with endogenous hypertriglyceridemia in Chinese population

目的研究酰基辅酶A：胆固醇酰基转移酶1（acyl—coenzyme A：cholesterol acyltransferase 1，ACATl）基因rsl044925多态性是否与正常汉族中国人及内源性高甘油三酯血症（hypertriglyceridemia，HTG）患者血脂及载脂蛋白水平存在关联。方法应用聚合酶链反应一限制性片段长度多态性分析法，对成都地区372名汉族人（267名正常人和105例内源性高甘油三酯血症患者）ACAT1 基因rsl044925多态位点进行分析。结果中国人ACAT1 基因rsl044925多态位点C等位基因频率为0．137，显著低于中部和南部欧洲人的0．354（P〈0．05）；HTG组和对照组C等位基因频率分别为0．153和0．137，两者之间差异无统计学意义。对照组从基因型携带者血清低密度脂蛋白胆固醇（low density lipoprotein-cholesterol，LDL-C）和非高密度脂蛋白胆固醇（non-high density lipoprotein cholesterol，nHDL-C）水平均较C等位基因携带者（AC和CC基因型者）显著升高[（3．25±0．68）mmol／Lvs（3．03±0．87）mmol／L，P〈0．05；（3．80±0．71）mmol／S（3．23±0．82）mmol／L，P〈0．05]，HTG组AA因型基携带者血清高密度脂蛋白胆固醇non-density lipoprotein-cholesterol-terol，HDL-C）水平较C等位基因携带者显著升高[（1．00±0．28）mmol／Lvs（0．87±0．17）mmol／L，P〈0．05]。结论ACAT1基因rsl044925多态性不仅与正常中国成都地区汉族人血清LDL-C、nHDL-C含量有关，而且还与内源性高甘油三酯血症患者血清HDL-C水平相关联。

Objective To investigate the polymorphism of acyl-coenzyme A： cholesterol acyltransferase 1 （ACAT1） gene and its relationship with endogenous hypertriglyceridemia （HTG） in Chinese population. Methods A total of three hundred and seventy-two subjects （105 endogenous hypertriglyceridemics and 267 healthy controls） from a population of Chinese Han nationality in Chengdu area were studied using PCR-restriction fragment length polymorphism （RFLP）. Results The frequency of C allele in normal Chinese at rs1044925 locus was 0. 137, which was lower than that reported in the population of central and Southern Europe （0. 354） （ P 〈 0.05）. The frequency C allele was 0. 153 in HTG group. No significant difference between normal control and HTG group. In control group, subjects with genotype AA had a higher serum mean concentrations of low density lipoprotein-cholesterol（LDL-C） and non-high density lipopro- tein-eholesterol（nHDL-C） when compared with those of C allele carriers （AC and CC genotype carriers）, respectively [（3.25±0.68） mmol/L vs （3.03±0.87） mmol/L, P〈0.05; （3.80±0.71） mmol/L vs （3.23±0.82） mmol/L, P 〈 0.05]. In HTG group, subjects with genotype AA had a higher high density lipoprotein-eholesterol（HDL-C） level compared with those of C allele carriers [ （ 1.00± 0.28） mmol/L vs （0.87±0.17） mmol/L, P 〈 0.05 ]. Conclusion These results suggest that rs1044925.polymorphism in ACAT1 gene is not only associated with serum LDL-C and nHDLC levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level in subjects with endogenous hypertriglyeeridemia in this population.