Genetic and Body Composition Factors Associated with Metabolic-Associated Steatotic Liver Disease: A Cross-Sectional Analysis of a Health Screening Cohort

Introduction

Metabolic-associated steatotic liver disease (MASLD), newly defined in 2023, is characterized by excessive hepatic triglyceride accumulation in the presence of cardiometabolic risk factors. The body roundness index (BRI), an indicator of body fat distribution and visceral adiposity, has been proposed as a potential predictor of MASLD. Variants in the FTO (fat mass and obesity-associated) gene are well established as genetic determinants of adiposity and metabolic dysfunction. This cross-sectional study aimed to evaluate the predictive value of FTO variants and BRI for MASLD. Material and Methods: This cross-sectional study included 5042 adult men and women aged ≥ 20 years who underwent self-funded health check-ups and single-nucleotide polymorphism genotyping at the HAVO Health Exam Clinic between January 2020 and December 2021. Participants were classified into the MASLD (n = 2644) and non-MASLD (n = 2398) groups. Hepatic steatosis was diagnosed by abdominal ultrasonography, and MASLD was defined as evidence of hepatic steatosis alongside at least one cardiometabolic risk factor in the absence of other causes of hepatic steatosis. Genotyping was performed using the Global Screening Array-24 v1.0 BeadChip (Infinium, California, USA). Multiple logistic regression models and receiver operating characteristic (ROC) curve analyses were applied to evaluate the predictive performance of the BRI and FTO variants for MASLD.