Immunogenetics of type 1 diabetes.
نویسندگان
چکیده
The T-cell mediated autoimmune process that destroys pancreatic beta cells in type 1 diabetes (T1D) is a complex phenotype influenced by multiple genetic and environmental factors. Human leukocyte antigen (HLA) accounts for about half of the genetic susceptibility, through a large variety of protective and predisposing haplotypes. Other important loci associated with T1D, with much smaller effects than HLA, include the insulin variable number of tandem repeats, PTPN22, and CTLA-4. Detecting the association and confirming it beyond doubt is only the first step. Identifying the functional variant from among a block of polymorphisms in tight linkage disequilibrium and determining its biological consequences can be an even more challenging task. It is hoped that the identification of additional loci and functional analysis of known ones, no matter how small each individual effect is, will provide: (1) pathophysiological insights necessary for the development of preventive interventions; (2) risk prediction to identify individuals that can benefit from them, and (3) potentially, identification of distinct subgenotypes, with different immune dysregulation pathways leading to the common disease phenotype that may respond to different preventive interventions.
منابع مشابه
Innate and adaptive autoimmunity in type 1 diabetes.
Morran MP, McInerney MF, Pietropaolo M. Innate and adaptive autoimmunity in type 1 diabetes. Pediatric Diabetes 2008: 9: 152–161. Michael P Morran, Marcia F McInerney and Massimo Pietropaolo Laboratory of Immunogenetics, The Brehm Center for Type 1 Diabetes Research and Analysis, Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan Medical Sc...
متن کاملGenetic determinants of Type 1 DM progression Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the DPT1 trial
Section on Immunology and Immunogenetics, Joslin Diabetes Center, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02215 Address correspondence to: Diane Mathis and Christophe Benoist Section on Immunology and Immunogenetics Joslin Diabetes Center One Joslin Place, Boston, MA 02214 email: [email protected] Received 11 December 2007 and accepted 5 Ju...
متن کاملThe CTLA4 +49 A/G polymorphism is not associated with susceptibility to type 1 diabetes mellitus in the Portuguese population.
CTLA4 genetic polymorphisms have been associated with type 1 diabetes. We genotyped 207 patients and 249 controls for the most frequently investigated polymorphism of the CTLA4 gene (+49A/G (rs231775)). No significant differences were observed, suggesting that this polymorphism is not strongly associated with type 1 diabetes in the Portuguese population.
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1 Department of Public Health, University of Pittsburgh, Pittsburgh, PA, USA 2 Children’s Hospital Research Center (CHORI), Oakland, CA, USA 3 The National Center for Biotechnology Information, Bethesda, MD, USA 4 Department of Immunology, University of Washington, Seattle, WA, USA 5 Fred Hutchinson Cancer Research Center, Seattle, WA, USA 6 Department für Blutgruppenserologie und Transfusionsm...
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ورودعنوان ژورنال:
- Hormone research
دوره 64 4 شماره
صفحات -
تاریخ انتشار 2005