[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.

• Authors: Qin Li, Huai Bai, Ping Fan
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 25 Issue 2 Pg. 206-10 (Apr 2008) ISSN: 1003-9406 [Print] China
• PMID: 18393248 (Publication Type: Journal Article)

Chemical References

• Sterol O-Acyltransferase
• sterol O-acyltransferase 1

Topics

• Adult
• Aged
• Asian People
• Female
• Gene Frequency
• Genotype
• Humans
• Hypertriglyceridemia (genetics)
• Male
• Middle Aged
• Polymerase Chain Reaction
• Polymorphism, Genetic (genetics)
• Polymorphism, Restriction Fragment Length
• Sterol O-Acyltransferase (genetics)
• Young Adult