Insulin gene polymorphisms in type I diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

  • Background: Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from ß-cell autoimmunity. Methods: We investigated the role of the -2221Msp(C/T) and -23HphI(A/T) polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317), Addison´s disease (AD, n = 107) or Hashimoto´s thyroiditis (HT, n = 61)], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62) as well as in healthy controls (HC, n = 275). Results: T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T) and "AA" -23HphI(A/T) polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively). The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion: We demonstrate that the allele "C" of the -2221Msp(C/T) and "A" -23HphI(A/T) insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.

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Author:Elizabeth Ramos-Lopez, Britta Kristina Lange, Heinrich Kahles, Holger S. Willenberg, Gesine MeyerORCiDGND, Marissa Penna Martinez, Nicole Reisch, Stefanie Hahner, Jürgen Seissler, Klaus BadenhoopORCiDGND
Pubmed Id:
Parent Title (English):BMC medical genetics
Publisher:BioMed Central
Place of publication:London
Document Type:Article
Date of Publication (online):2008/09/23
Date of first Publication:2008/07/11
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2008/09/23
Issue:Art. 65
Page Number:6
First Page:1
Last Page:6
© 2008 Ramos-Lopez et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Source:BMC Medical Genetics 2008, 9:65 ; doi:10.1186/1471-2350-9-65 ;
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - Namensnennung 2.0