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The apolipoprotein A5 -1131T>C promoter polymorphism in Koreans: association with serum apoA5 and triglyceride concentrations, LDL particle size and coronary artery disease
1연세대학교 의과대학 심장내과, 2연세대학교 임상영양유전 국가지정연구실, 3연세대학교 식품영양학과 식품영양유전체사업팀, 4연세대학교 노화과학연구소, 5연세의료원 심혈관계질환유전체센터, 6국민건강보험공단 일산병원 순환기내과
1이정명, 2,3백진경, 2,4김지영, 4,5신동직, 1고영국, 6김병극, 2,3,4이종호, 1,4,5장양수
Objective: 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. We investigated the association of this APOA5 -1131T>C SNP with circulating levels of apoA5, triglyceride and CAD in Koreans. Methods: CAD patients (n=805) and healthy controls (n=1069) were genotyped for the APOA5 -1131T>C SNP. We calculated the odds ratio (OR) for CAD risk and measured 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 1.32 (95% CI, 1.09-1.60), P=0.005] after adjusting for age, BMI, cigarette smoking, alcohol consumption, and diastolic blood pressure. There was an association between the apoA5 concentration and the -1131T>C genotype in controls (T/T: 246±6 ng/mL, T/C: 232±6, C/C: 204±13; P=0.002) and CAD patients (T/T: 209±9 ng/mL, T/C: 179±9, C/C: 155±10; 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<0.001), with the T/C or C/C controls having smaller size than the T/T controls. Conclusions: Our data demonstrates that 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.


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