POLYGENIC RISK SCORE SEBAGAI PREDIKTOR DIABETES MELLITUS TIPE 2: SYSTEMATIC RIVIEW

Authors

  • Ni Ketut Diah Ayu Pramisswari Universitas Lampung
  • Ety Apriliana Universitas Lampung
  • Selvi Marcellia Universitas Lampung
  • Putu Ristyaning Ayu Sangging Universitas Lampung

DOI:

https://doi.org/10.59003/nhj.v5i8.1881

Keywords:

Polygenic risk score, type 2 diabetes mellitus, genetic risk, disease prediction, systematic review

Abstract

Type 2 diabetes mellitus (T2DM) is a multifactorial metabolic disease with a significant genetic contribution. Polygenic risk score (PRS) has been developed to integrate the cumulative effects of multiple genetic variants to improve T2DM risk prediction. This Systematic review aimed to evaluate the role of PRS in predicting T2DM incidence, disease progression, and related complications across different populations. This study was conducted in accordance with the PRISMA guidelines, with a literature search performed using the PubMed database and keywords related to PRS and T2DM. Included studies were observational in design and assessed the association between PRS and T2DM incidence or clinical outcomes. Three main studies with case-control, cross-sectional, and cohort designs were analyzed. The results demonstrated that PRS was significantly associated with increased T2DM risk, disease progression, and metabolic complications such as liver fibrosis, including in the context of organ transplantation. Integration of PRS with traditional clinical risk factors improved predictive performance. PRS has the potential to support precision-based T2DM risk stratification, although further cross-population validation is still required.

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References

Widiasari KR, Wijaya IMK, Suputra PA. Diabetes Melitus Tipe 2: Faktor Risiko, Diagnosis, dan Tatalaksana. Ganesha Medical Journal. 2021;1(2):114–120.

Bridi L, Agrawal S, Tesfai K, Madamba E, Bettencourt R, Richards LM. The Impact of Genetic Risk on the Prevalence of Advanced Fibrosis and Cirrhosis in Prospectively Assessed Patients With Type 2 Diabetes. Alimentary Pharmacology & Therapeutics. 2025;60(3):369–377.

Prasad RB, Hakaste L, Tuomi T. Clinical Use of Polygenic Scores in Type 2 Diabetes: Challenges and Possibilities. Diabetologia. 2025;68(7):1361–1374.

Kim NY, Lee H, Kim S, Kim YJ, Lee H, Lee J. The Clinical Relevance of a Polygenic risk score for Type 2 Diabetes Mellitus in the Korean Population. Scientific Reports. 2024;14:1–11.

Shojima N, Yamauchi T. Progress in Genetics of Type 2 Diabetes and Diabetic Complications. Journal of Diabetes Investigation. 2023;14(4):503–515.

Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM. Genetic Drivers of Heterogeneity in Type 2 Diabetes Pathophysiology. Nature. 2024;627(8003):347–357.

Perišić MM, Vladimir K, Karpov S, Štorga M, Mostashari A, Khanin R. Polygenic risk score and Risk Factors for Gestational Diabetes. Journal of Personalized Medicine. 2022;12(9).

Kim H, Westerman KE, Smith K, Chiou J, Cole JB, Majarian T. High-Throughput Genetic Clustering of Type 2 Diabetes Loci Reveals Heterogeneous Mechanistic Pathways of Metabolic Disease. Diabetologia. 2023;66(3):495–507.

Chikowore T, Ekoru K, Vujkovi M, Gill D, Pirie F, Young E. Polygenic Prediction of Type 2 Diabetes in Africa. Diabetes Care. 2022;45(3):717–723.

Shitomi-Jones LM, Akam L, Hunter D, Singh P, Mastana S. Genetic Risk Scores for the Determination of Type 2 Diabetes Mellitus in North India. International Journal of Environmental Research and Public Health. 2023;20(4):1–14.

Santos Q, Leung P, Thorball CW, Ledergerber B, Fellay J, Macpherson CR. Predicting Type 2 Diabetes Risk Before and After Solid Organ Transplantation Using Polygenic Scores in a Danish Cohort. Frontiers in Molecular Biosciences. 2023;10:1–10.

Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA. Ten Years of GWAS Discovery: Biology, Function, and Translation. American Journal of Human Genetics. 2017;101(1):5–22.

Läll K, Mägi R, Morris A, Metspalu A, Fischer K. Personalized Risk Prediction for Type 2 Diabetes: The Potential of Genetic Risk Scores. Genetics in Medicine. 2017;19(3):322–329.

Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH. Genome-Wide Polygenic Scores for Common Diseases Identify Individuals With Risk Equivalent to Monogenic Mutations. Nature Genetics. 2018;50(9):1219–1224.

Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. Clinical Use of Current Polygenic Risk Scores May Exacerbate Health Disparities. Nature Genetics. 2019;51(4):584–591.

Vujkovic M, Keaton JM, Lynch JA, Miller DR, Zhou J, Tcheandjieu C. Discovery of New Risk Loci for Type 2 Diabetes and Related Vascular Outcomes in a Multi-Ancestry Meta-Analysis. Nature Genetics. 2020;52(7):680–691.

Huerta-Chagoya A, Kim J, Mandla R, Lu Y, Suzuki K, Petty LE. Multi-Ancestry Polygenic Risk Scores for the Prediction of Type 2 Diabetes and Complications in Diverse Populations. medRxiv. 2025. In press.

Lugner M, Rawshani A, Helleryd E, Eliasson B. Identifying Top Predictors of Type 2 Diabetes Through Machine Learning Analysis of UK Biobank Data. Scientific Reports. 2024;14:1–9.

Torkamani A, Wineinger NE, Topol EJ. The Personal and Clinical Utility of Polygenic Risk Scores. Nature Reviews Genetics. 2018;19(9):581–590.

Lewis CM, Vassos E. Polygenic Risk Scores: From Research Tools to Clinical Instruments. Genome Medicine. 2020;12(1):44.

Udler MS, Kim J, von Grotthuss M, Bonàs-Guarch S, Coleman JRI, Anderson CD. Type 2 Diabetes Genetic Loci Informed by Multi-Trait Associations Point to Disease Mechanisms and Subtypes. PLOS Medicine. 2018;15(9):1–23.

Laakso M, Silva LF. Genetics of Type 2 Diabetes: Past, Present, and Future. Nutrients. 2022;14(12):1–12.

Polygenic risk score Task Force of the International Common Disease Alliance. Responsible Use of Polygenic Risk Scores in the Clinic: Potential Benefits, Risks, and Gaps. Nature Medicine. 2021;27(11):1876–1884.

Choi SW, Mak TSH, O’Reilly PF. Tutorial: A Guide to Performing Polygenic risk score Analyses. Nature Protocols. 2020;15(9):2759–2772.

Loesch DP, Garg M, Matelska D, Vitsios D, Jiang X, Ritchie SC. Identification of Plasma Proteomic Markers Underlying Polygenic Risk of Type 2 Diabetes and Related Comorbidities. Nature Communications. 2025;16(1):2124.

Martin AR, Kanai M, Kamatani Y, Okada Y. Current Clinical Use of Polygenic Scores Will Risk Exacerbating Health Disparities. Nature Genetics. 2019;51(4):584–591.

Meigs JB. The Genetic Epidemiology of Type 2 Diabetes: Opportunities for Health Translation. Current Diabetes Reports. 2019;19(8):62.

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Published

2026-01-30

How to Cite

Ni Ketut Diah Ayu Pramisswari, Ety Apriliana, Selvi Marcellia, & Putu Ristyaning Ayu Sangging. (2026). POLYGENIC RISK SCORE SEBAGAI PREDIKTOR DIABETES MELLITUS TIPE 2: SYSTEMATIC RIVIEW. Nusantara Hasana Journal, 5(8), 575–584. https://doi.org/10.59003/nhj.v5i8.1881