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. 2022 May;23(3):320-323.
doi: 10.1111/pedi.13310. Epub 2022 Jan 19.

Improved genetic risk scoring algorithm for type 1 diabetes prediction

Hui-Qi Qu  1 , Jingchun Qu  1 , Joseph Glessner  1   2   3 , Yichuan Liu  1 , Frank Mentch  1 , Xiao Chang  1 , Michael March  1 , Jin Li  4 , Jeffrey D Roizen  2 , John J Connolly  1 , Patrick Sleiman  1   2   3 , Hakon Hakonarson  1   2   3   5
Affiliations

Improved genetic risk scoring algorithm for type 1 diabetes prediction

Hui-Qi Qu et al. Pediatr Diabetes. 2022 May.

Abstract

Background: Precise risk prediction of type 1 diabetes (T1D) facilitates early intervention and identification of risk factors prior to irreversible beta-islet cell destruction, and can significantly improve T1D prevention and clinical care. Sharp et al. developed a genetic risk scoring (GRS) system for T1D (T1D-GRS2) capable of predicting T1D risk in children of European ancestry. The T1D-GRS2 was developed on the basis of causal genetic variants, thus may be applicable to minor populations, while a trans-ethnic GRS for T1D may avoid the exacerbation of health disparities due to the lack of genomic information in minorities.

Methods: Here, we describe a T1D-GRS2 calculator validated in two independent cohorts, including African American children and European American children. Participants were recruited by the Center for Applied Genomics at the Children's Hospital of Philadelphia.

Results: It demonstrates that GRS2 is applicable to the T1D risk prediction in the AA cohort, while population-specific thresholds are needed for different populations.

Conclusions: The study highlights the potential to further improve T1D-GRS2 performance with the inclusion of additional genetic markers.

Keywords: PRS; eMERGE; genetic risk score; screening; type 1 diabetes.

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Conflict of interest statement

Conflict of interest: The authors have no competing interests to declare.

Ethical Approval: This study was approved by the Children’s Hospital of Philadelphia (CHOP) Institutional Review Board (IRB). Informed consent was obtained from all subjects or, if subjects are under 18, from a parent and/or legal guardian with assent from the child if 7 years or older.

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