Lupus & antiphospholipid syndrome
Haematopoietic stem cell-derived immune cells have reduced X chromosome inactivation skewing in systemic lupus erythematosus
Authors' conclusion
These results refute current views on XCI-skew in autoimmunity and suggest, in lupus, XCI patterns of immune cells reflect the impact of disease state, specifically interferon signalling, on the haematopoietic stem cells from which they derive.
Study context
- Population
- Females with systemic lupus erythematosus (SLE), female healthy controls and twin pairs discordant for SLE; X chromosome inactivation (XCI) assayed in whole blood DNAplus 10 discordant twin pairs
- Participants
- 181 vs 796
- Comparison
- Female SLE cases vs female healthy controls
- SLEn = 181
- Controlsn = 796reference
- Outcome
- XCI-skew in whole blood DNA, accommodating age
Methodological detailsdiscordant twin pairs, regression modelling, intra-twin comparisons, polygenic score
- Discordant twin pairs
- Regression modelling
- Intra-twin comparisons
- Polygenic score
Main finding
As reported in the abstract
XCI-skew (age-adjusted)
- SLE vs Controls: P = 1.3×10-5
Observational data: associations, not effects.
Further findings
XCI-skew at threshold >80%
Explanation of difference
- Not explained by differential white cell counts, medication or genetic susceptibility to SLE
- XCI-skew correlated with a biomarker for type I IFN-regulated gene expression
Original publication
Haematopoietic stem cell-derived immune cells have reduced X chromosome inactivation skewing in systemic lupus erythematosus. Ann Rheum Dis. Published 30 September 2024. doi:10.
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