title: The apolipoprotein A5 -1131T>C promoter polymorphism in Koreans: association with plasma APOA5 and serum triglyceride concentrations, LDL particle size and coronary artery disease.
abstract: BACKGROUND
  The association between -1131T>C single nucleotide polymorphism (SNP) of the apolipoprotein A5 gene (APOA5) and hypertriglyceridemia raised the possibility that this SNP could be related to coronary artery disease (CAD) risk. Therefore, we investigated the association of this APOA5 -1131T>C SNP with circulating concentrations of APOA5, triglyceride and CAD in Koreans.
  
  
  METHODS
  CAD patients (n=741) and age-, sex-matched healthy controls (n=741) were genotyped for the APOA5 -1131T>C SNP. The main outcome measures were the odds ratio (OR) on CAD risk and lipid variables, APOA5 concentration and LDL particle size.
  
  
  RESULTS
  The presence of the minor allele at the -1131T>C SNP was associated with an increased risk of CAD [OR 1.34 (95% CI, 1.09-1.65), P=0.007] after adjusting for BMI, alcohol consumption, systolic blood pressure and diastolic blood pressure. There was an association between the APOA5 concentration and the -1131T>C genotype in controls (T/T: 245+/-7 ng/ml, T/C: 220+/-6, C/C: 195+/-12; P=0.001) and CAD patients (T/T: 218+/-8 ng/ml, T/C: 185+/-7, C/C: 169+/-12; P<0.001). Subjects with T/C or C/C in control and CAD patient groups showed higher triglyceride than those with T/T genotype. Also, the -1131T>C polymorphism was associated with LDL particle size (P=0.003), with the T/C or C/C controls having smaller size than the T/T controls.
  
  
  CONCLUSIONS
  The APOA5 -1131C allele is associated with reduced APOA5 concentration and with increased CAD risk. This is consistent with the observed association between the -1131C SNP, increased triglycerides as well as small LDL particle size.
authors.affiliation: Cardiology Division, Cardiovascular Center, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Yangsoo
authors.initials: Y
authors.lastname: Jang
authors.forename: Jean Kyung
authors.initials: JK
authors.lastname: Paik
authors.forename: Yae Jung
authors.initials: YJ
authors.lastname: Hyun
authors.forename: Jey Sook
authors.initials: JS
authors.lastname: Chae
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Kim
authors.forename: Ju Ree
authors.initials: JR
authors.lastname: Choi
authors.forename: Sang Hak
authors.initials: SH
authors.lastname: Lee
authors.forename: Dong-Jik
authors.initials: DJ
authors.lastname: Shin
authors.forename: Jose M
authors.initials: JM
authors.lastname: Ordovas
authors.forename: Jong Ho
authors.initials: JH
authors.lastname: Lee
mesh_terms: D000483:Alleles; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000097:blood / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood / Q000378:metabolism; D003324:Coronary Artery Disease / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014280:Triglycerides / Q000097:blood
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; D008078:Cholesterol, LDL; D014280:Triglycerides