Genetic Association of Apolipoprotein A5-1131T>C Polymorphism with Traits of Metabolic Syndrome

Objective: To investigate the association of -1131T>C polymorphism of apolipoprotein A5 (APOA5) with metabolic syndrome and associated traits. Study Design: A cross-sectional comparative study. Place and Duration of Study: Department of Physiology, University of Health Sciences Lahore, from July 2016 to December 2017. Methodology: Study population included 200 cases of metabolic syndrome and 200 controls. Cases were selected from Sheikh Zayed Hospital, Lahore according to the International Diabetes Federation guidelines. Fasting blood sample of 8 ml was taken for biochemical and genetic analysis, as per objective. Demographics, waist circumferance and blood pressure (BP) were also recorded. Results: Subjects with metabolic syndrome had significantly higher waist circumference, BP, serum lipid and glycemic parameters as compared to the controls (p<0.001). The observed frequency of APOA5-1131T>C genotype TT was 180 (45%), 202 (50.5%) for TC and 18 (4.5%) for CC. Minor C allele frequency of APOA5-1131T>C variant was significantly higher in metabolic syndrome as compared to the controls (0.33 vs. 0.26: p = 0.031*). In the Dominant genotype model (TC+CC vs. TT), 'TC+CC' genotype was significantly associated with the increased risk of metabolic syndrome (OR: 1.50, CI: 1.01-2.23, p = 0.044*). Waist circumference and fasting triglyceride levels were significantly higher in 'TC +CC' genotype as compared to the 'TT' in metabolic syndrome and controls (p = <0.001 and 0.043; p = 0.022 and 0.006). Conclusion: There was significant association of the 'TC+CC' genotype of APOA5 -1131T>C with the increased risk of Met S and the association remained significant after controlling for age and gender.