This review summarizes the role of the PNPLA3 I148M variant in the clinical sub-phenotyping, disease severity, and prognostication of patients with MASLD.
In this review, we will summarise the updated evidence on the natural history of MASLD accounting for classical metabolic risk factors, the role of PNPLA3 in clinical sub-phenotyping (e.g., 'lean MASLD'), impact on disease severity and fibrosis progression, as well as its role for prognostication, alone or in combination with non-invasive tools into polygenic risk scores.
Petta et al. (Wed,) studied this question.