This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Nithiyananthan, R. Articles by Gough, S. C. L. Search for Related Content PubMed PubMed Citation Articles by Nithiyananthan, R. Articles by Gough, S. C. L.

A Heterozygous Deletion of the Autoimmune Regulator (AIRE1) Gene, Autoimmune Thyroid Disease, and Type 1 Diabetes: No Evidence for Association¹

Department of Medicine, University of Birmingham and Birmingham Heartlands and Queen Elizabeth Hospitals, Birmingham B9 5SS, United Kingdom

Address correspondence to: Dr. S. C. L. Gough, Department of Medicine, University of Birmingham, Birmingham Heartlands Hospital, Bordesely Green East, Birmingham B9 5SS, United Kingdom. E-mail: s.c.gough{at}bham.ac.uk

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autoimmune disease with endocrine components including type 1 diabetes, adrenal failure, and thyroid dysfunction, with major autoantibodies directed against adrenal, pancreas, and thyroid tissue. A 13-bp deletion in exon 8 of the autoimmune regulator (AIRE1) gene on chromosome 21q22.3 accounts for more than 70% of mutant alleles in United Kingdom subjects with APECED. To determine whether this polymorphism contributes to disease susceptibility in subjects with autoimmune disease in general, we screened 302 patients with Graves’ disease, 154 patients with autoimmune hypothyroidism, 235 patients with type 1 diabetes, and 318 control subjects for the 13-bp deletion of the AIRE1 gene. The mutation was present in only 1 (0.33%) patient with Graves’ disease, 1 patient with autoimmune hypothyroidism (0.6%), and 1 (0.315) of the control subjects. No patients with type 1 diabetes were found to carry the mutation. We conclude, therefore, that the 13-bp deletion of the AIRE1 gene is not a susceptibility locus for the more common autoimmune endocrinopathies in the United Kingdom.

This article has been cited by other articles:

				M. J. Simmonds and S. C. L. Gough Genetic insights into disease mechanisms of autoimmunity Br. Med. Bull., February 8, 2005; 71(1): 93 - 113. [Abstract] [Full Text] [PDF]

				R Bergholdt, J Nerup, and F Pociot Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetes J. Med. Genet., January 1, 2005; 42(1): 17 - 25. [Abstract] [Full Text] [PDF]

				F. Cetani, G. Barbesino, S. Borsari, E. Pardi, L. Cianferotti, A. Pinchera, and C. Marcocci A Novel Mutation of the Autoimmune Regulator Gene in an Italian Kindred with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Acting in a Dominant Fashion and Strongly Cosegregating with Hypothyroid Autoimmune Thyroiditis J. Clin. Endocrinol. Metab., October 1, 2001; 86(10): 4747 - 4752. [Abstract] [Full Text] [PDF]