title: Sex-specific association of ACAT-1 rs1044925 SNP and serum lipid levels in the hypercholesterolemic subjects.
abstract: BACKGROUND
  Acyl-CoA:cholesterol acyltransferase (ACAT) is a key enzyme in cellular cholesterol homeostasis and in atherosclerosis. The cellular cholesterol efflux correlated with serum high-density lipoprotein cholesterol (HDL-C) concentrations has shown to be impaired in hyperlipidemic mice. The present study was carried out to clarify the association of ACAT-1 rs1044925 single nucleotide polymorphism (SNP) and serum lipid levels in the hyperlipidemic subjects.
  
  
  METHODS
  A total of 821 unrelated subjects (hyperlipidemia, 476; normolipidemia, 345) aged 15-80 were included in the study. Genotyping of the ACAT-1 rs1044925 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.
  
  
  RESULTS
  There was no significant difference in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and hyperlipidemic subjects. The levels of total cholesterol (TC), HDL-C and apolipoprotein (Apo) AI in hyperlipidemic subjects were different between the AA and AC/CC genotypes in male but not in female (P < 0.05-0.01), the C allele carriers had higher serum TC, HDL-C and ApoAI levels than the C allele noncarriers. The association of genotypes and serum HDL-C and ApoAI levels in hyperlipidemia was found mainly in the male subjects with hypercholesterolemia but not in those with hypertriglyceridemia. There were no significant differences in serum lipid levels between the AA and AC/CC genotypes in the normolipidemic subjects.
  
  
  CONCLUSIONS
  The present study shows that the C allele carriers of ACAT-1 rs1044925 SNP in male hyperlipidemic subjects had higher serum TC, HDL-C and ApoAI levels than the C allele noncarriers. There is a sex (male)-specific association of ACAT-1 rs1044925 SNP and serum HDL-C and ApoAI levels in the hypercholesterolemic subjects.
authors.affiliation: Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, People's Republic of China.
authors.forename: Dong-Feng
authors.initials: DF
authors.lastname: Wu
authors.forename: Rui-Xing
authors.initials: RX
authors.lastname: Yin
authors.forename: Lynn Htet Htet
authors.initials: LH
authors.lastname: Aung
authors.forename: Qing
authors.initials: Q
authors.lastname: Li
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: Yan
authors.forename: Xiao-Na
authors.initials: XN
authors.lastname: Zeng
authors.forename: Ke-Ke
authors.initials: KK
authors.lastname: Huang
authors.forename: Ping
authors.initials: P
authors.lastname: Huang
authors.forename: Jin-Zhen
authors.initials: JZ
authors.lastname: Wu
authors.forename: Shang-Ling
authors.initials: SL
authors.lastname: Pan
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood / Q000235:genetics*; D015228:Hypertriglyceridemia / Q000097:blood / Q000235:genetics; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors; D055815:Young Adult
chemical_list: D008055:Lipids; C506639:ACAT1 protein, human; D000101:Acetyl-CoA C-Acetyltransferase