Individuals with the PNPLA3 (adiponutrin) variant present with unexpected body fat composition: a study in one thousand healthy blood donors

Background: The common PNPLA3 (adiponutrin) variant p.I148 M represents a major genetic driver of progressive fatty liver disease (Krawczyk et al. Semin Liver Dis 2013). Fatty liver is commonly associated with traits of the metabolic syndrome, thus non-alcoholic fatty liver disease (NAFLD) is mostly suspected in obese individuals. Here we investigate the association between the PNPLA3 variant and anthropometric traits, including body mass index (BMI) and whole body fat distribution, in a cohort of healthy blood donors. Patients and methods: We recruited a total of 1.000 (500 women; median age 24 years, range 18…