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Genetic Risk Scores for Type 1 Diabetes Prediction and Diagnosis

  • Pathogenesis of Type 1 Diabetes (A Pugliese, Section Editor)
  • Published:
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Abstract

Purpose of Review

About 50% of the heritability of type 1 diabetes (T1D) is attributed to human leukocyte antigen (HLA) alleles and the remainder to several (close to 50) non-HLA loci. A current challenge in the field of the genetics of T1D is to apply the knowledge accumulated in the last 40 years towards differential diagnosis and risk assessment.

Recent Findings

T1D genetic risk scores seek to combine the information from HLA and non-HLA alleles to improve the accuracy of diagnosis, prediction, and prognosis. Here, we describe genetic risk scores that have been developed and validated in various settings and populations.

Summary

Several genetic scores have been proposed that merge disease risk information from multiple genetic factors to optimize the use of genetic information and ultimately improve prediction and diagnosis of T1D.

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Funding

NIH U01 DK103180-01 (MJR), American Diabetes Association (ADA) Grant 1-14-CD-17 (AKS), and Diabetes UK Harry Keen Fellowship (RAO).

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Authors and Affiliations

  1. Texas Children’s Hospital/Baylor College of Medicine, 6701 Fannin Street, CC1020, Houston, TX, 77030, USA

    Maria J. Redondo

  2. University of Exeter Medical School, Institute of Biomedical and Clinical Science, RILD Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK

    Richard A. Oram

  3. Barbara Davis Center for Childhood Diabetes, University of Colorado School of Medicine, 1775 Aurora Ct, Aurora, CO, 80045, USA

    Andrea K. Steck

Authors
  1. Maria J. Redondo
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  2. Richard A. Oram
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  3. Andrea K. Steck
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Correspondence to Maria J. Redondo.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Pathogenesis of Type 1 Diabetes

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Redondo, M.J., Oram, R.A. & Steck, A.K. Genetic Risk Scores for Type 1 Diabetes Prediction and Diagnosis. Curr Diab Rep 17, 129 (2017). https://doi.org/10.1007/s11892-017-0961-5

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