Association of single nucleotide polymorphism in patatin like phopholipase domain containing 3 (PNPLA3) gene with paediatric non-alcoholic fatty liver disease

Background: Non-alcoholic fatty liver disease (NAFLD) is the most unabating cause of chronic liver disease in children and adolescents. The aim of this study was to examine the association of paediatric NAFLD and single nucleotide polymorphism in patatin like phopholipase domain containing 3 (PNPLA3) gene. ­Methods:Τhis case-control study was carried out from June 2021 to December 2022. A total of 51 overweight children aged 6  17 years were recruited in this study and divided into NAFLD (cases) and non-NAFLD (controls) groups on the basis of hepatic steatosis detected by liver ultrasonography. We analyzed the rs738409 polymorphism by TaqMan assay and examined its association with NAFLD. ­­­­­Results: A total of 31 (60.7%) children were in case group and 20 children were in control group. Body mass index, waist circumference, total cholesterol and triglycerides levels were statistically higher in NAFLD group. Homogygosity (GG status) and heterogygosity (CG status) for PNPLA3 polymorphism was seen in 2 (6.4%) and 18 (58.1%) children having NAFLD, respectively. PNPLA3 rs738409 genotypes were similar between case and control groups. Conclusion: No association was found between PNPLA3 rs 738409 SNP with the presence of NAFLD in children. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 139-143