Integration of <i>PNPLA3</i> and <i>TM6SF2</i> genotypes provides incremental improvement in advanced fibrosis prediction among MASLD patients with type 2 diabetes mellitus.

ABSTRACT:

Background & aims

Genetic information is not yet used for the clinical diagnosis of advanced fibrosis in patients with metabolic dysfunction-associated steatotic liver disease (MASLD). Herein, we investigated whether incorporating genetic information regarding PNPLA3 and TM6SF2 into existing non-invasive fibrosis scoring systems could improve their predictive accuracy, particularly in patients with type 2 diabetes mellitus (T2DM), a high-risk population for MASLD-related complications.

Methods

Data were collected from a cohort of 637 patients with biopsy-proven MASLD. All participants underwent liver stiffness measurement (LSM), serum marker analysis, and genotyping for PNPLA3 (rs738409), TM6SF2 (rs58542926), and other relevant single nucleotide p

SUBMITTER: Kim DY 

PROVIDER: S-EPMC12857344 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature