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

Tayfun Ozcelik, Elif Uz, Cemaliye B. Akyerli, Sevgi Bagislar, Chigdem A. Mustafa, Alptekin Gursoy, Nurten Akarsu, Gokce Toruner, Nuri Kamel, Sevim Gullu

Research output: Contribution to journalArticlepeer-review


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<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.
Original languageEnglish
Pages (from-to)791-797
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number6
Publication statusPublished - 5 Apr 2006


  • X chromosome inactivation
  • autoimmune thyroid disease
  • female predisposition to autoimmunity


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