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Pathway insights and predictive modeling for type 2 diabetes using polygenic risk scores.


ABSTRACT: Type 2 diabetes (T2D) poses a significant global health burden. We developed a polygenic risk score (PRS) model based on genome-wide association study (GWAS) findings and integrated it with clinical data to predict T2D risk. This study analyzed electronic medical records from a major medical center in Taiwan, comprising 315,424 T2D cases and 141,484 controls. Fourteen genome-wide significant SNPs were identified and used to construct the T2D PRS. The integrated predictive model showed high accuracy (AUROC 0.842) and was validated in the Taiwan Biobank. A risk score ranging from 0 to 19 was established for clinical use. Phenome-wide association study (PheWAS) revealed links between PRSs and T2D-related complications, such as diabetic retinopathy and hypertension. Pathway analysis highlighte

SUBMITTER: Liao WL 

PROVIDER: S-EPMC12332094 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature