Association of Genetic Variants in the Promoter Region of APOC3 with the Risk of NAFLD in Northern India Population: A Case Control Study

Non-Alcoholic Fatty Liver Disease (NAFLD) is a clinical condition defined by excessive fat accumulation in the liver in the form of triglycerides involving more than 5% of hepatocytes. The association between the APOC3 gene T-455C-(rs2854116) C-482T-(rs2854117) variant and NAFLD has been demonstrated in a number of studies, confirming that this gene is an important genetic determinant of disease development. The present study was carried out with an aim to evaluate the association of demographic features, liver enzymes, serum lipid profile and APOC3 gene variants (C-482T and T-455C) Method: A case-control study was designed with 150 patients with NAFLD, and 180 healthy controls. The mutations were analyzed using PCR-RFLP approach, Case-control studies assessing the relationship between APOC3 rs2854116 C/C and rs 2854117 C/T gene polymorphism with non-alcoholic fatty liver disease. Results: Statistically significant increased frequencies of CC+CT genotype [OR, 2.0; 95% CI (1.18-3.40); P < 0.0006] [OR, 2.0; 95% CI (1.38-2.91); P < 0.0002] and the C allele is seen in NAFLD patients compared to healthy controls.In conclusion we found that the APOC3 gene and elevated triglyceride levels in -455C/C SNP is significantly associated with the risk of NAFLD whereas the Apoc3-482C/T showed no association with NAFLD.