In:
BMC Medical Genetics, Springer Science and Business Media LLC, Vol. 9, No. 1 ( 2008-12)
Abstract:
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 β-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.
Type of Medium:
Online Resource
ISSN:
1471-2350
DOI:
10.1186/1471-2350-9-65
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2008
detail.hit.zdb_id:
2041359-2
