- 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.
MetadatenAuthor: | Elizabeth Ramos-Lopez, Britta Kristina Lange, Heinrich Kahles, Holger S. Willenberg, Gesine MeyerORCiDGND, Marissa Penna Martinez, Nicole ReischORCiDGND, Stefanie Hahner, Jürgen Seissler, Klaus BadenhoopORCiDGND |
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URN: | urn:nbn:de:hebis:30-57530 |
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DOI: | https://doi.org/10.1186/1471-2350-9-65 |
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ISSN: | 1471-2350 |
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Pubmed Id: | https://pubmed.ncbi.nlm.nih.gov/18620562 |
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Parent Title (English): | BMC medical genetics |
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Publisher: | BioMed Central |
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Place of publication: | London |
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Document Type: | Article |
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Language: | English |
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Date of Publication (online): | 2008/09/23 |
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Date of first Publication: | 2008/07/11 |
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Publishing Institution: | Universitätsbibliothek Johann Christian Senckenberg |
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Release Date: | 2008/09/23 |
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Volume: | 9 |
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Issue: | Art. 65 |
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Page Number: | 6 |
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First Page: | 1 |
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Last Page: | 6 |
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Note: | © 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 (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
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Source: | BMC Medical Genetics 2008, 9:65 ; doi:10.1186/1471-2350-9-65 ; http://www.biomedcentral.com/1471-2350/9/65 |
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HeBIS-PPN: | 205486312 |
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Institutes: | Medizin / Medizin |
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Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
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Licence (German): | Creative Commons - Namensnennung 2.0 |
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