APOA2–265 T>C Polymorphism as A Genetic Marker Associated with Lipid Profiles and Cardiovascular Risk in A Healthy Indonesian Population

Abstract

BACKGROUND: Apolipoprotein A (APOA)2–265 T>C polymorphism significantly affects lipid metabolism and body composition, as well as plays a key role in cardiovascular diseases (CVD) and metabolic syndrome. In this study, association between the APOA2 polymorphism, lipid profiles, body composition, and cardiovascular disease (CVD) risk in a healthy Indonesian population was investigated. Although similar studies have been conducted in other populations, this study addresses the urgent need to understand genetic factors influencing lipid profiles in Southeast and East Asia, where hypercholesterolemia rate keep rising, particularly in Indonesia. METHODS: A cross-sectional study involving 84 healthy participants was performed. Genotyping for the APOA2–265 T>C polymorphism was conducted using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Plasma levels of APOA2 and APOB100 were measured with enzyme-linked immunosorbent assay (ELISA), and APOB100/APOA2 ratio was calculated to assess CVD risk. Lipid profiles were evaluated with enzymatic methods, and body fat percentage was measured using calipers. RESULTS: CT/CC genotypes showed significantly lower plasma APOA2 levels compared to the TT genotype (p=0.0215). APOB100/APOA2 ratio was significantly higher in CT/CC genotypes (p=0.0020) and remained significant after Bonferroni correction. No significant differences were found in lipid profiles and body fat percentages between genotypes after correction, although trends suggested higher cholesterol and low-density lipoprotein (LDL) levels in TT genotypes and higher median body fat percentages in CC/CT genotypes. CONCLUSION: APOA2–265 T>C polymorphism is linked to changes in lipid profiles and body composition, potentially raising CVD risk in CT/CC genotypes. However, limited sample size and modest effect sizes suggest that the practical use of APOA2 genotyping for risk assessment might require further investigation. KEYWORDS: APOA2 polymorphism, APOB100, hypercholesterolemia, cardiovascular disease, lipid profile, body fat percentage