A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association

J Clin Endocrinol Metab. 2000 Mar;85(3):1320-2. doi: 10.1210/jcem.85.3.6465.


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.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 21 / genetics
  • DNA / genetics
  • DNA / isolation & purification
  • Diabetes Mellitus, Type 1 / genetics*
  • Exons / genetics
  • Gene Deletion
  • Graves Disease / genetics
  • Heterozygote
  • Humans
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polymorphism, Genetic / genetics
  • Thyroiditis, Autoimmune / genetics
  • Transcription Factors / genetics*


  • APECED protein
  • Transcription Factors
  • DNA