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Skewed X-chromosome inactivation in scleroderma
Elif Uz1, Laurence S Loubiere, Vijayakrishna K Gadi
1Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Bilkent, Ankara, 06800, Turkey.
Clinical Reviews in Allergy & Immunology
|December 25, 2007
Summary
Skewed X-chromosome inactivation (XCI) is significantly more common in women with scleroderma. This finding suggests skewed XCI mosaicism may be an important risk factor for developing this autoimmune disease.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Scleroderma is a prevalent autoimmune condition primarily affecting women, with unknown causes.
- Gender-specific factors like skewed X-chromosome inactivation (XCI) and microchimerism are potential contributors to scleroderma.
- Investigating XCI patterns and their link to microchimerism in scleroderma patients is crucial.
Purpose of the Study:
- To analyze X-chromosome inactivation (XCI) patterns in female scleroderma patients.
- To determine the parental origin of the inactive X chromosome in patients with skewed XCI.
- To explore the correlation between XCI patterns and microchimerism in scleroderma.
Main Methods:
- Analysis of the androgen receptor locus in peripheral blood DNA from 195 female scleroderma patients and 160 female controls.
- Assessment of XCI patterns, including skewed XCI (>80%) and extremely skewed XCI (>90%).
- Investigation of the parental origin of the inactive X chromosome in a subset of patients.
Main Results:
- Significantly higher prevalence of skewed XCI in scleroderma patients (44.9%) compared to controls (8.0%).
- Extremely skewed XCI (>90%) was observed in 29.5% of patients versus 2.4% of controls.
- In patients with skewed XCI, the inactive X chromosome was predominantly of maternal origin.
Conclusions:
- Skewed X-chromosome inactivation (XCI) is a significant risk factor for scleroderma.
- XCI patterns may play a crucial role in the pathogenesis of scleroderma.
- Further research into XCI and microchimerism could reveal novel therapeutic targets.
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