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

Abstract

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 lipoprotein-cholesterol (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-cholesterol (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 hypertriglyceridemia in this population.