Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II.

Abstract

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 beta-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 x 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.

• Authors: Elizabeth Ramos-Lopez, Britta Lange, Heinrich Kahles, Holger S Willenberg, Gesine Meyer, Marissa Penna-Martinez, Nicole Reisch, Stefanie Hahner, Jürgen Seissler, Klaus Badenhoop
• Journal: BMC medical genetics (BMC Med Genet) Vol. 9 Pg. 65 (Jul 11 2008) ISSN: 1471-2350 [Electronic] England
• PMID: 18620562 (Publication Type: Journal Article)

Chemical References

• Insulin

Topics

• Addison Disease (complications, genetics)
• Adolescent
• Adult
• Alleles
• Case-Control Studies
• Chi-Square Distribution
• Child
• Child, Preschool
• Diabetes Mellitus, Type 1 (complications, genetics)
• Genotype
• Graves Disease (complications, genetics)
• Hashimoto Disease (complications, genetics)
• Humans
• Infant
• Insulin (genetics)
• Middle Aged
• Minisatellite Repeats
• Polyendocrinopathies, Autoimmune (genetics)
• Polymerase Chain Reaction
• Polymorphism, Genetic