Association of PNPLA3 Gene Polymorphism (rs738409) and Nonalcoholic Fatty Liver Disease in Southern Iranian Population

Nonalcoholic fatty liver disease (NAFLD) is the spectrum of NAFLD ranges from simple steatosis to hepatocellular carcinoma. Genetic factors play an important role in developing the disease. Single nucleotide polymorphism (C> G) rs738409 of PNPLA3 gene increase liver fat content and metabolic disorders associated with liver damage. In this study, the relationship between this gene polymorphism with NAFLD and demographic and clinical characteristics were evaluated in the south Iranian population.
In this case-control study, 95 patients and 183 control subjects were studied. Blood samples from a cohort of Kavar were collected and normal blood donors from Shiraz blood transfusion center. The polymorphism genotypes were determined by PCR-RFLP.
Our results showed that there is significant association in genotype and sex parameter between patients and control subject (P-value(CG)=0.01, (SEX) In the present study, G allele wasn’t a risk allele and CG genotype Carriers had a 2.63-fold (95% CI, 1.16 to 5.98, p-value = 0.01) increased risk of NAFLD. Age were identified as a risk factor for NAFLD in this study and by adjusting the variable age and three genotypes, it showed that by considering the age factor, the genotype didnt have a role in disease development. Also the no association between genotypes with demographic and clinical parameters was identified.