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      Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

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      Author
      Ozcelik, T.
      Uz, E.
      Akyerli, C. B.
      Bagislar, S.
      Mustafa, C. A.
      Gursoy, A.
      Akarsu, N.
      Toruner, G.
      Kamel, N.
      Gullu, S.
      Date
      2006
      Source Title
      European Journal of Human Genetics
      Print ISSN
      1018-4813
      Publisher
      Nature Publishing Group
      Volume
      14
      Issue
      6
      Pages
      791 - 797
      Language
      English
      Type
      Article
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      Abstract
      The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One hundred and ten female AITDs patients (81 Hashimoto's thyroiditis (HT), 29 Graves' disease (GD)), and 160 female controls were analyzed for the androgen receptor locus by the HpaII/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. In addition, thyroid biopsy, buccal mucosa, and hair follicle specimens were obtained from five patients whose blood revealed an extremely skewed pattern of XCI, and the analysis was repeated. Skewed XCI was observed in DNA from peripheral blood cells in 28 of 83 informative patients (34%) as compared with 10 of 124 informative controls (8% P<0.0001). Extreme skewing was present in 16 patients (19%), but only in three controls (2.4% P<60;0.0001). The buccal mucosa, and although less marked, the thyroid specimens also showed skewing. Analysis of two familial cases showed that only the affected individuals demonstrate skewed XCI patterns. Based on these results, skewed XCI mosaicism may play a significant role in the pathogenesis of AITDs.
      Keywords
      Autoimmune thyroid disease
      Female predisposition to autoimmunity
      X chromosome inactivation
      Androgen receptor
      Type II site specific deoxyribonuclease
      Adult
      Article
      Autoimmunity
      Biopsy
      Blood cell
      Cheek mucosa
      Controlled study
      DNA extraction
      Evidence based medicine
      Familial disease
      Female
      Gene locus
      Genetic predisposition
      Graves disease
      Hair follicle
      Hashimoto disease
      Human
      Human cell
      Human tissue
      Major clinical study
      Pathogenesis
      Pathophysiology
      Polymerase chain reaction
      Priority journal
      Sex chromosome mosaicism
      Thyroid gland
      X chromosome inactivation
      Adult
      Chromosomes, Human, X
      Genetic Predisposition to Disease
      Graves Disease
      Hashimoto Disease
      Humans
      Male
      Middle Aged
      Mosaicism
      Pedigree
      Sex Factors
      X Chromosome Inactivation
      Permalink
      http://hdl.handle.net/11693/23788
      Published Version (Please cite this version)
      http://dx.doi.org/10.1038/sj.ejhg.5201614
      Collections
      • Department of Molecular Biology and Genetics 426
      • Institute of Materials Science and Nanotechnology (UNAM) 1775
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