The apolipoprotein A5 -1131T>C promoter polymorphism in Koreans: Association with plasma APOA5 and serum triglyceride concentrations, LDL particle size and coronary artery disease

• Published in: Clinica chimica acta Vol. 402; no. 1; pp. 83 - 87
• Main Authors: Jang, Yangsoo, Paik, Jean Kyung, Hyun, Yae Jung, Chae, Jey Sook, Kim, Ji Young, Choi, Ju Ree, Lee, Sang Hak, Shin, Dong-Jik, Ordovas, Jose M., Lee, Jong Ho
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.04.2009
• Subjects: Alleles; APOA5 -1131T>C polymorphism; Apolipoprotein A-V; Apolipoprotein A5 concentration; Apolipoproteins A - blood; Apolipoproteins A - genetics; Cholesterol, LDL - blood; Cholesterol, LDL - metabolism; Coronary artery disease; Coronary Artery Disease - blood; Coronary Artery Disease - epidemiology; Coronary Artery Disease - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Korea - epidemiology; LDL particle size; Male; Middle Aged; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Triglycerides; Triglycerides - blood; Triglycerides; LDL particle size; APOA5 -1131T>C polymorphism; Coronary artery disease; Apolipoprotein A5 concentration
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/j.cca.2008.12.024

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. 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. 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. 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.