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Background <p>Polygenic risk score (PRS), which estimates the genetic likelihood of a person to develop a disease, is obtained by aggregating information of many genetic variants. Currently,&#xa0;genome-wide association studies&#xa0;(GWAS) studies provide most of the data.</p> Objective <p>To review recent studies that assessed the basis and applicability of PRS in identifying risk for type 2 diabetes mellitus and related complications.</p> Methods <p>A systematic review of literature published in major biomedical databases was made and relevant articles studied.</p> Results <p>The risk alleles of an individual are collectively weighed and compared with available GWAS data. Many methods are used which usually involve summary statistics. Clinically, PRS is helpful in risk stratification, diagnosis and treatment choices; the value increases when integrated with available clinical risk scores. Most of the GWAS data that are used in PRS are generated from European populations. As a result, scores are more accurate for people from similar genetic backgrounds. Other ethnic groups from Asia and Africa which do not share all the genetic traits are less accurately identified. Including under represented populations and use of special statistical techniques help to correct the imbalance. Genetic influence is modified by environmental and lifestyle which are not captured by current PRS methods. In addition, ethical and legal issues must be addressed in ensuring privacy and informed consent.</p> Conclusion <p>Understanding the pathogenesis of diabetes helps in improving the construction of PRS, especially when combined with clinical risk factors. In the future, data from multi-omics sources could refine the performance. At present PRS is an evolving tool and can aid in stratification and preventive measures to slow the progress of complex diseases such as diabetes mellitus.</p>

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Polygenic risk scores in diabetes: are the goalposts shifting?

  • 期刊论文

  • 发表日期：

    2026年5月28日

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  • Gumpeny R. Sridhar,
  • Lakshmi Gumpeny,
  • Sanjana S. N. Narasimhadevara

摘要

Background

Polygenic risk score (PRS), which estimates the genetic likelihood of a person to develop a disease, is obtained by aggregating information of many genetic variants. Currently, genome-wide association studies (GWAS) studies provide most of the data.

Objective

To review recent studies that assessed the basis and applicability of PRS in identifying risk for type 2 diabetes mellitus and related complications.

Methods

A systematic review of literature published in major biomedical databases was made and relevant articles studied.

Results

The risk alleles of an individual are collectively weighed and compared with available GWAS data. Many methods are used which usually involve summary statistics. Clinically, PRS is helpful in risk stratification, diagnosis and treatment choices; the value increases when integrated with available clinical risk scores. Most of the GWAS data that are used in PRS are generated from European populations. As a result, scores are more accurate for people from similar genetic backgrounds. Other ethnic groups from Asia and Africa which do not share all the genetic traits are less accurately identified. Including under represented populations and use of special statistical techniques help to correct the imbalance. Genetic influence is modified by environmental and lifestyle which are not captured by current PRS methods. In addition, ethical and legal issues must be addressed in ensuring privacy and informed consent.

Conclusion

Understanding the pathogenesis of diabetes helps in improving the construction of PRS, especially when combined with clinical risk factors. In the future, data from multi-omics sources could refine the performance. At present PRS is an evolving tool and can aid in stratification and preventive measures to slow the progress of complex diseases such as diabetes mellitus.