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dc.contributor.authorOzcelik, T
dc.contributor.authorUz, E
dc.contributor.authorAkyerli, CB
dc.contributor.authorBagislar, S
dc.contributor.authorMustafa, CA
dc.contributor.authorGursoy, A
dc.contributor.authorAkarsu, N
dc.contributor.authorToruner, G
dc.contributor.authorKamel, N
dc.contributor.authorGullu, S
dc.date.accessioned2019-12-10T10:37:04Z
dc.date.available2019-12-10T10:37:04Z
dc.date.issued2006
dc.identifier.issn1018-4813
dc.identifier.urihttps://doi.org/10.1038/sj.ejhg.5201614
dc.identifier.urihttp://hdl.handle.net/11655/13990
dc.description.abstractThe 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.
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.isversionof10.1038/sj.ejhg.5201614
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBiochemistry & Molecular Biology
dc.subjectGenetics & Heredity
dc.titleEvidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunitytr_en
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalEuropean Journal Of Human Genetics
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume14
dc.identifier.issue6
dc.identifier.startpage791
dc.identifier.endpage797
dc.description.indexWoS


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