Combined Effects of the PNPLA3 Rs738409, TM6SF2 Rs58542926, and MBOAT7 Rs641738 Variants on NAFLD Severity: a Multicenter Biopsy-based Study

Résumé du livre

Abstract: The PNPLA3 p.I148M, TM6SF2 p.E167K, and MBOAT7 rs641738 variants represent genetic risk factors for nonalcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in patients with NAFLD. We recruited 515 patients with NAFLD (age 16-88 years, 280 female patients). Liver biopsies were performed in 320 patients. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants. Carriers of the PNPLA3 and TM6SF2 risk alleles showed increased serum aspartate aminotransferase and alanine transaminase activities (P 0.05). The PNPLA3 genotype was associated with steatosis grades S2-S3 (P 0.001) and fibrosis stages F2-F4 (P