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


CONCLUSIONS
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.
Li
Qin
Q
Unit of Laboratory Medicine, West China Second Hospital, Sichuan University, Chengdu, Sichuan, 610041 P. R. China. baihuai@hotmail.com.
Bai
Huai
H
Fan
Ping
P
D000328:Adult; D000368:Aged; D044466:Asian People; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D002785:Sterol O-Acyltransferase / Q000235:genetics*; D055815:Young Adult
D002785:Sterol O-Acyltransferase; C493492:sterol O-acyltransferase 1