| Summary: | <p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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).</p> <p>Results</p> <p>T1D patients carried significantly more often the homozygous genotype "<it>CC</it>" -2221Msp(C/T) and "<it>AA</it>" -23HphI(A/T) polymorphisms than the HC (78.5% vs. 66.2%, <it>p </it>= 0.0027 and 75.4% vs. 52.4%, <it>p </it>= 3.7 × 10<sup>-8</sup>, respectively).</p> <p>The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC.</p> <p>Conclusion</p> <p>We demonstrate that the allele "<it>C</it>" of the -2221Msp(C/T) and "<it>A</it>" -23HphI(A/T) insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.</p>
|
|---|