• Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with Nonalcoholic Fatty Liver Disease (NAFLD)
  • Saeideh Maleki,1,* Seyed Moayed Alavian,2 Maryam Eslami,3 Heidar Sharafi,4 Kamran Bagheri Lankarani,5 Behnam Honarvar,6
    1. Department of Genetics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
    2. Baqiyatallah Research Center for Gastroenterology and Liver Diseases, Baqiyatallah University of Medical Sciences, Tehran, Iran
    3. Department of Genetics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
    4. Middle East Liver Diseases (MELD) Center, Tehran, Iran
    5. Health Policy Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran
    6. Health Policy Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran


  • Introduction: Nonalcoholic fatty liver disease (NAFLD) is a burgeoning health problem worldwide. The etiology of NAFLD has still remained unclear and varies in prevalence among ethnic groups. Genetic factors increase susceptibility to disease. The PNPLA3 I148M and TM6SF2 E167K variants represent genetic risk factor for hepatic steatosis. This study aimed to investigate the association of variants PNPLA3 rs738409 and TM6SF2 rs58542926 with NAFLD among Iranian population.
  • Methods: A population-based study performed in Shiraz for epidemiology and etiology of NAFLD. The samples selected for a case-control study. All individuals undergone clinical and laboratory assessment and also diagnosed by ultrasonography. A total of 108 healthy control and 108 with moderate and severe steatosis recruited in a sex-age-ethnicity match case control study. Genotyping for PNPLA3 rs738409 and TM6SF2 rs58542926 was carried out by PCR-RFLP method.
  • Results: The case and control groups are consisted of 56.5% male with mean age around 48 years. The distribution of PNPLA3 rs738409 CC and CG+GG in case group were 60.2% and 39.8% while the distribution of CC and CG+GG in control group were 47.2% and 52.8%, respectively (P=0.076, OR=0.59). The distribution of TM6SF2 rs58542926 CC and CT in case group were 89.8% and 10.2% while the distribution of CC and CT in control group were 92.6% and 7.4%, respectively (P=0.632, OR=1.41). In multivariate analysis, the BMI >25 and diabetes found to be associated with NAFLD.
  • Conclusion: In this population-based case-control study, the genetic variants of PNPLA3 and TM6SF2 were not found to be associated with NAFLD in Iranian population.
  • Keywords: Non-alcoholic fatty liver disease, Polymorphism, Genetics, PNPLA3, TM6SF2