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Type 1 Diabetes, Autoimmunity, and the MHC

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Book cover Genetics of Diabetes Mellitus

Part of the book series: Endocrine Updates ((ENDO,volume 10))

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Abstract

Diabetes mellitus is a phenotypically and genetically heterogeneous group of disorders that share chronic hyperglycemia as the predominant feature. Once considered a geneticist’s nightmare (1), diabetes mellitus has recently emerged as a prototype for genetic studies of complex diseases. The ultimate goal of genetic studies is to define etiological subtypes by resolving genetic heterogeneity. The transition of diabetes from a geneticist’s nightmare to a prototype for study is a sign of significant progress in resolving genetic heterogeneity. The first step was to use family studies to explore the relationship between phenotypic heterogeneity and genetic heterogeneity. The existence of two clinically distinct forms of diabetes has been known for centuries, with one form characterized by abrupt onset of severe hyperglycemia in a child (juvenile diabetes) or lean adult, and the other form characterized by a more gradual onset of mild to severe hyperglycemia, typically in an obese adult (maturity onset diabetes). The vast majority (>90%) of patients with juvenile diabetes are dependent on exogenous insulin for survival (insulin-dependent diabetes, IDDM); while the vast majority (>80%) of patients with maturity onset diabetes are treated initially by diet or oral agents (non-insulin-dependent diabetes, NIDDM). Studies demonstrating familial clustering for age of onset, clinical presentation, and type of treatment provided critical evidence for the etiological distinction between juvenile diabetes and maturity onset diabetes (2,3).

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  1. Barbara Davis Center for Childhood Diabetes, Denver, CO, 80262, USA

    Pamela R. Fain Ph.D. & George S. Eisenbarth M.D., Ph.D.

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  1. Northwestern University Medical School, Chicago, Illinois, USA

    William L. Lowe Jr. M.D.

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Fain, P.R., Eisenbarth, G.S. (2001). Type 1 Diabetes, Autoimmunity, and the MHC. In: Lowe, W.L. (eds) Genetics of Diabetes Mellitus. Endocrine Updates, vol 10. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1597-5_3

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