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<p>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 highlighted biological processes including IL-15 production and WNT/β-catenin signaling. Our findings support the use of PRSs in personalized T2D risk assessment and early prevention strategies.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月7日

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  • Wen-Ling Liao,
  • Jai-Sing Yang,
  • Ting-Yuan Liu,
  • Hsing-Fang Lu,
  • Ya-Wen Chang,
  • Fuu-Jen Tsai

摘要

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 highlighted biological processes including IL-15 production and WNT/β-catenin signaling. Our findings support the use of PRSs in personalized T2D risk assessment and early prevention strategies.