Skewed X chromosome inactivation in blood cells of women with scleroderma

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dc.citation.epage1570en_US
dc.citation.issueNumber5en_US
dc.citation.spage1564en_US
dc.citation.volumeNumber52en_US
dc.contributor.authorÖzbalkan, Z.en_US
dc.contributor.authorBaǧişlar, S.en_US
dc.contributor.authorKiraz, S.en_US
dc.contributor.authorAkyerli, C. B.en_US
dc.contributor.authorÖzer H. T. E.en_US
dc.contributor.authorYavuz, Ş.en_US
dc.contributor.authorBirlik, A. M.en_US
dc.contributor.authorÇalgüneri, M.en_US
dc.contributor.authorÖzçelik, T.en_US
dc.date.accessioned2016-02-08T10:23:42Z
dc.date.available2016-02-08T10:23:42Z
dc.date.issued2005en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractObjective. Scleroderma (SSc) is an autoimmune disease of unknown etiology. The disease is 3-8 times more frequent in women than in men. The role of X chromosome inactivation (XCI) in the predisposition of women to autoimmunity has been questioned. Until now this has not been illustrated experimentally. This study was undertaken to test the hypothesis that disturbances in XCI mosaicism may be involved in the pathogenesis of the disease in female patients with SSc. Methods. Seventy female SSc patients and 160 female controls were analyzed for the androgen receptor locus by the Hpa II/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. Furthermore, skin biopsy samples were obtained from 5 patients whose blood revealed an extremely skewed pattern of XCI, and the analysis repeated. Since microchimerism in SSc was reported, Y chromosome sequences were investigated in all samples. Results. Skewed XCI was observed in DNA from peripheral blood cells in 35 of 55 informative patients (64%), as compared with 10 of 124 informative controls (8%) (P < 0.0001). Extreme skewing was present in 27 of the patient group (49%), as compared with only 3 of the controls (2.4%) (P < 0.0001). However, XCI was random in all skin biopsy samples. The potential contribution of microchimerism to the random XCI pattern is highly unlikely based on the medical histories of the patients. Conclusion. Skewed XCI mosaicism may play a significant role in the pathogenesis of SSc.en_US
dc.description.provenanceMade available in DSpace on 2016-02-08T10:23:42Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 2005en
dc.identifier.doi10.1002/art.21026en_US
dc.identifier.issn0004-3591
dc.identifier.urihttp://hdl.handle.net/11693/24072
dc.language.isoEnglishen_US
dc.publisherJohn Wiley & Sons, Inc.en_US
dc.relation.isversionofhttp://dx.doi.org/10.1002/art.21026en_US
dc.source.titleArthritis and Rheumatismen_US
dc.subjectAndrogen receptoren_US
dc.subjectAutoantigenen_US
dc.subjectAzathioprineen_US
dc.subjectChloroquineen_US
dc.subjectCyclophosphamideen_US
dc.subjectDNAen_US
dc.subjectImmunosuppressive agenten_US
dc.subjectMethotrexateen_US
dc.subjectMycophenolic aciden_US
dc.subjectPenicillamineen_US
dc.subjectAdulten_US
dc.subjectAgeden_US
dc.subjectArticleen_US
dc.subjectAutoimmune diseaseen_US
dc.subjectBlood cellen_US
dc.subjectCheek mucosaen_US
dc.subjectControlled studyen_US
dc.subjectDisease predispositionen_US
dc.subjectDNA methylationen_US
dc.subjectFemaleen_US
dc.subjectHair follicleen_US
dc.subjectHumanen_US
dc.subjectHuman tissueen_US
dc.subjectImmunosuppressive treatmenten_US
dc.subjectMajor clinical studyen_US
dc.subjectMicrochimerismen_US
dc.subjectPathogenesisen_US
dc.subjectPolymerase chain reactionen_US
dc.subjectPregnancyen_US
dc.subjectPriority journalen_US
dc.subjectRheumatoid arthritisen_US
dc.subjectSclerodermaen_US
dc.subjectSex chromosome mosaicismen_US
dc.subjectSkin biopsyen_US
dc.subjectSystemic lupus erythematosusen_US
dc.subjectSystemic sclerosisen_US
dc.subjectX chromosome inactivationen_US
dc.subjectY chromosomeen_US
dc.subjectAdulten_US
dc.subjectChromosomes, Human, Xen_US
dc.subjectDosage Compensation, Geneticen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectImmunosuppressive Agentsen_US
dc.subjectMiddle Ageden_US
dc.subjectScleroderma, Systemicen_US
dc.titleSkewed X chromosome inactivation in blood cells of women with sclerodermaen_US
dc.typeArticleen_US

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