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Skewed X-chromosome inactivation in scleroderma.

Uz, Elif and Loubiere, Laurence S and Gadi, Vijayakrishna K and Ozbalkan, Zeynep and Stewart, Jeffrey and Nelson, J Lee and Ozcelik, Tayfun (2008) Skewed X-chromosome inactivation in scleroderma. Clinical reviews in allergy & immunology, 34 (3). pp. 352-355. ISSN 1080-0549

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Scleroderma 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.

Item Type: Article or Abstract
Additional Information: This article is available to subscribers only via the URL above.
DOI: 10.1007/s12016-007-8044-z
PubMed ID: 18157513
PMCID: PMC2716291
Grant Numbers: R01 AI041721-11
Keywords or MeSH Headings: Chimerism; Female; Humans; Scleroderma, Systemic/genetics/immunology; X Chromosome Inactivation;
Subjects: Diseases > Autoimmune
Molecules > Chromosomes
Cellular and Organismal Processes > Genetic processes > Transcription
Depositing User: Library Staff
Date Deposited: 19 May 2009 16:52
Last Modified: 14 Feb 2012 14:42

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