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Genes Affecting β-Cell Function in Type 1 Diabetes

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

Type 1 diabetes (T1D) is a multifactorial disease resulting from an immune-mediated destruction of the insulin-producing pancreatic β cells. Several environmental and genetic risk factors predispose to the disease. Genome-wide association studies (GWAS) have identified around 50 genetic regions that affect the risk of developing T1D, but the disease-causing variants and genes are still largely unknown. In this review, we discuss the current status of T1D susceptibility loci and candidate genes with focus on the β cell. At least 40 % of the genes in the T1D susceptibility loci are expressed in human islets and β cells, where they according to recent studies modulate the β-cell response to the immune system. As most of the risk variants map to noncoding regions of the genome, i.e., promoters, enhancers, intergenic regions, and noncoding genes, their possible involvement in T1D pathogenesis as gene regulators will also be addressed.

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Acknowledgments

Work by the authors discussed in this review was supported by the University of Copenhagen, European Foundation for the Study of Diabetes (EFSD), National Institute of Health (NIH), Juvenile Diabetes Research Foundation (JDRF), the Danish Council for Strategic Research, the A.P. Møller Foundation, the Poul and Erna Sehested Hansen Foundation, and the Research Council at Herlev Hospital. We are grateful to Dr. Caroline Brorsson for assistance with table preparation regarding islet-expressed candidate genes.

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Conflict of Interest

Tina Fløyel, Simranjeet Kaur, and Flemming Pociot declare that they have no conflict of interest.

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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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  1. Copenhagen Diabetes Research Center, Department of Pediatrics, Herlev and Gentofte Hospital, Herlev Ringvej 75, DK-2730, Herlev, Denmark

    Tina Fløyel, Simranjeet Kaur & Flemming Pociot

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  1. Tina Fløyel
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  2. Simranjeet Kaur
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  3. Flemming Pociot
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Correspondence to Flemming Pociot.

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

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Fløyel, T., Kaur, S. & Pociot, F. Genes Affecting β-Cell Function in Type 1 Diabetes. Curr Diab Rep 15, 97 (2015). https://doi.org/10.1007/s11892-015-0655-9

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