P-88 rs641738 MBOAT7 POLYMORPHISM AS A PREDICTOR OF FIBROSIS IN METABOLIC DYSFUNCTION-ASSOCIATED STEATOTIC LIVER DISEASE (MASLD)

No Recent studies have indicated that certain polymorphisms may be associated with the progression of metabolic dysfunction-associated steatotic liver disease (MASLD). To construct a predictive fibrosis score and evaluate the association of the risk genetic polymorphisms rs738409 PNPLA3, rs58542926 TM6SF2, rs641738 MBOAT7, rs1260326 and rs780094 GCKR, rs72613567 HSD17B13 and rs2642438 MARC1 in MASLD. This cross-sectional and retrospective study analyzed 212 biopsy-proven MASLD patient samples from the Hospital das Clínicas, Faculty of Medicine, University of São Paulo. Samples were divided into two groups: Group 1: absent and mild fibrosis (F0-1, n=113) and Group 2: significant and advanced fibrosis (F2-4, n=99). Demographic, laboratory, and histological data were compared, along with their association and frequency with the polymorphisms. Genotyping was performed by real-time PCR allele discrimination, and statistical analysis was conducted using Jasp® and Jamovi® software. The significance level adopted was 5%. Most patients were female (146; 68.9%) with an average age of 56 years and were obese (BMI of 30.7). Group 1 had a higher frequency of dyslipidemia and NAS score 0-4 (71%), higher total cholesterol levels, and lower levels of AST, ALT, GGT, and alpha-fetoprotein compared to Group 2 (p < 0.05). The regression model (ROC Curve) used the TT genotype of the MBOAT7 gene associated with age, ALT, AST, GGT, TG, HDL, LDL, and total cholesterol to predict fibrosis (AUC: 0.77; Sen: 0.61; Spe: 0.79; Acc: 0.71; R²: 0.14) (Fig. 1A). Another model with AFP (n = 76) showed (AUC: 0.80; Sen: 0.67; Spe: 0.83; Acc: 0.76; R²: 0.24) (Fig. 1B). The polymorphisms of the PNPLA3, TM6SF2, GCKR, HSD17B13, and MARC1 genes did not demonstrate risk or protection in this cohort. This study underscores the rs641738 MBOAT7 polymorphism as a potential predictor of fibrosis in MASLD, highlighting its value in clinical assessment and management.