Skewed X-chromosome inactivation in scleroderma

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dc.citation.epage355en_US
dc.citation.issueNumber3en_US
dc.citation.spage352en_US
dc.citation.volumeNumber34en_US
dc.contributor.authorUz, E.en_US
dc.contributor.authorLoubiere, L. S.en_US
dc.contributor.authorGadi, V. K.en_US
dc.contributor.authorOzbalkan, Z.en_US
dc.contributor.authorStewart, J.en_US
dc.contributor.authorNelson, J. L.en_US
dc.contributor.authorOzcelik, T.en_US
dc.date.accessioned2016-02-08T10:08:55Z
dc.date.available2016-02-08T10:08:55Z
dc.date.issued2008en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.departmentInstitute of Materials Science and Nanotechnology (UNAM)en_US
dc.description.abstractScleroderma is a female-prevalent autoimmune disease of unclear etiology. Two fundamental gender differences, skewed X-chromosome inactivation (XCI) and pregnancy-related microchimerism, have been implicated in scleroderma. We investigated the XCI patterns of female scleroderma patients and the parental origin of the inactive X chromosome in those patients having skewed XCI patterns (>80%). In addition, we investigated whether a correlation exists between XCI patterns and microchimerism in a well-characterized cohort. About 195 female scleroderma patients and 160 female controls were analyzed for the androgen receptor locus to assess XCI patterns in the DNA extracted from peripheral blood cells. Skewed XCI was observed in 67 (44.9%) of 149 informative patients and in 10 of 124 healthy controls (8.0%) [odds ratio (OR) = 9.3 (95% confidence interval (CI) 4.3-20.6, P < 0.0001)]. Extremely skewed XCI (>90%) was present in 44 of 149 patients (29.5%) but only in 3 of 124 controls (2.4%; OR = 16.9; 95% CI 4.8-70.4, P < 0.0001). Parental origin of the inactive X chromosome was investigated for ten patients for whom maternal DNA was informative, and the inactive X chromosome was of maternal origin in eight patients and of paternal origin in two patients. Skewed XCI mosaicism could be considered as an important risk factor in scleroderma.en_US
dc.identifier.doi10.1007/s12016-007-8044-zen_US
dc.identifier.issn1080-0549
dc.identifier.urihttp://hdl.handle.net/11693/23100
dc.language.isoEnglishen_US
dc.publisherSpringer New Yorken_US
dc.relation.isversionofhttp://dx.doi.org/10.1007/s12016-007-8044-zen_US
dc.source.titleClinical Reviews in Allergy and Immunologyen_US
dc.subjectMicrochimerismen_US
dc.subjectMosaicismen_US
dc.subjectSclerodermaen_US
dc.subjectX-inactivationen_US
dc.subjectAndrogen receptoren_US
dc.subjectDNAen_US
dc.subjectArticleen_US
dc.subjectClinical featureen_US
dc.subjectControlled studyen_US
dc.subjectDNA extractionen_US
dc.subjectDNA polymorphismen_US
dc.subjectFemaleen_US
dc.subjectGene locusen_US
dc.subjectHeterozygosityen_US
dc.subjectHumanen_US
dc.subjectMajor clinical studyen_US
dc.subjectMicrochimerismen_US
dc.subjectRisk factoren_US
dc.subjectSclerodermaen_US
dc.subjectX chromosome inactivationen_US
dc.subjectChimerismen_US
dc.subjectHumansen_US
dc.subjectScleroderma, Systemicen_US
dc.subjectX Chromosome Inactivationen_US
dc.titleSkewed X-chromosome inactivation in sclerodermaen_US
dc.typeArticleen_US

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