Diabetes, Metabolic Syndrome and Obesity · Oct 13, 2026

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

By Shen YH, Lee YC, Chou TJ et al.

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. RESULTS: Among 2644 MASLD and 2398 non-MASLD individuals, the MASLD group had a significantly higher mean BRI (4.08 ± 1.01 vs 2.72 ± 0.69, p < 0.001). Higher BRI quartiles were associated with increased MASLD risk (Q4 OR = 20.50, 95% CI: 13.78-30.51). FTO variants were associated with an elevated BRI (TT: 3.40, AT: 3.54, AA: 3.69, p < 0.001). The AUC for the combined model incorporating both FTO variants and BRI, along with age and sex, in detecting MASLD was 0.907. CONCLUSIONS: The BRI is a strong predictor of MASLD, with FTO risk allele further amplifying susceptibility to MASLD. Integrating genetic and anthropometric markers may enhance MASLD risk assessment.

doi.org/10.2147/dmso.s630425 Open access PubMed 42893248 Biomarkers