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

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dc.citation.epage797en_US
dc.citation.issueNumber6en_US
dc.citation.spage791en_US
dc.citation.volumeNumber14en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorUz, E.en_US
dc.contributor.authorAkyerli, C. B.en_US
dc.contributor.authorBagislar, S.en_US
dc.contributor.authorMustafa, C. A.en_US
dc.contributor.authorGursoy, A.en_US
dc.contributor.authorAkarsu, N.en_US
dc.contributor.authorToruner, G.en_US
dc.contributor.authorKamel, N.en_US
dc.contributor.authorGullu, S.en_US
dc.date.accessioned2016-02-08T10:19:13Z
dc.date.available2016-02-08T10:19:13Z
dc.date.issued2006en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
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<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.en_US
dc.identifier.doi10.1038/sj.ejhg.5201614en_US
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/11693/23788
dc.language.isoEnglishen_US
dc.publisherNature Publishing Groupen_US
dc.relation.isversionofhttp://dx.doi.org/10.1038/sj.ejhg.5201614en_US
dc.source.titleEuropean Journal of Human Geneticsen_US
dc.subjectAutoimmune thyroid diseaseen_US
dc.subjectFemale predisposition to autoimmunityen_US
dc.subjectX chromosome inactivationen_US
dc.subjectAndrogen receptoren_US
dc.subjectType II site specific deoxyribonucleaseen_US
dc.subjectAdulten_US
dc.subjectArticleen_US
dc.subjectAutoimmunityen_US
dc.subjectBiopsyen_US
dc.subjectBlood cellen_US
dc.subjectCheek mucosaen_US
dc.subjectControlled studyen_US
dc.subjectDNA extractionen_US
dc.subjectEvidence based medicineen_US
dc.subjectFamilial diseaseen_US
dc.subjectFemaleen_US
dc.subjectGene locusen_US
dc.subjectGenetic predispositionen_US
dc.subjectGraves diseaseen_US
dc.subjectHair follicleen_US
dc.subjectHashimoto diseaseen_US
dc.subjectHumanen_US
dc.subjectHuman cellen_US
dc.subjectHuman tissueen_US
dc.subjectMajor clinical studyen_US
dc.subjectPathogenesisen_US
dc.subjectPathophysiologyen_US
dc.subjectPolymerase chain reactionen_US
dc.subjectPriority journalen_US
dc.subjectSex chromosome mosaicismen_US
dc.subjectThyroid glanden_US
dc.subjectX chromosome inactivationen_US
dc.subjectAdulten_US
dc.subjectChromosomes, Human, Xen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectGraves Diseaseen_US
dc.subjectHashimoto Diseaseen_US
dc.subjectHumansen_US
dc.subjectMaleen_US
dc.subjectMiddle Ageden_US
dc.subjectMosaicismen_US
dc.subjectPedigreeen_US
dc.subjectSex Factorsen_US
dc.subjectX Chromosome Inactivationen_US
dc.titleEvidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunityen_US
dc.typeArticleen_US

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Department of Molecular Biology and Genetics
Institute of Materials Science and Nanotechnology (UNAM)