Ontology highlight
ABSTRACT:
SUBMITTER: Krawczyk M
PROVIDER: S-EPMC5234727 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Krawczyk Marcin M Rau Monika M Schattenberg Jörn M JM Bantel Heike H Pathil Anita A Demir Münevver M Kluwe Johannes J Boettler Tobias T Lammert Frank F Geier Andreas A
Journal of lipid research 20161111 1
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 sho ...[more]