Abstract

1. Abstract 1.1. Background: Apolipoprotein C3 (APOC3) gene polymorphisms were reported to be associated with non-alcoholic fatty liver disease (NAFLD), hyper-triglyceridaemia, and insulin-resistance. 1.2. Objective: This study was undertaken to test the association of APOC3 gene variants with liver dysfunction, abnormal lipid profile or insulin resistance in obese Egyptian subjects. 1.3. Methods: The study was carried out on 100 unrelated obese Egyptians affected with NAFLD. These cases were compared to 83 normal weight healthy controls. All participants were subjected to an estimation of their body mass index (BMI) in addition to liver and renal functions and lipid profile. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to detect APOC3 -455T>C (rs2854116) and APOC3 -482C>T (rs2854117) polymorphic genotypes. 1.4. Results: Cases showed a significantly higher frequency of the APOC3 -455 CC genotype than controls (p=0.0003, OR=5.33, 95% CI=2.2-12.7). Also, the allelic frequency of the rare APOC3 -455 C allele was significantly higher among cases than controls (p=0.0001, OR=2.35, 95% CI=1.5-3.6). On the other hand, cases showed a non-significant difference from controls regarding all APOC3 -482C>T genotypes and alleles. Although all obese cases were significantly showing affection of liver function, lipid profile and blood glucose levels compared to controls, they did not differ from each other in relation to their APOC3 genetic polymorphic types. 1.5. Conclusion: The polymorphism APOC3 -455T>C but not the APOC3 -482C>T in APOC3 gene was associated with NAFLD in Egyptian obese subjects. However, this polymorphism was not correlated to the degree of affection of liver function, lipid and glucose status. 2. Keywords: Apolipoprotein C-III; Genetic; Obesity; Polymorphism; Non-alcoholic Fatty Liver Disease

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