Evidence map›Paper›PMID 38937070›Full record

ArticleAnnals of the rheumatic diseases2024

Haematopoietic stem cell-derived immune cells have reduced X chromosome inactivation skewing in systemic lupus erythematosus.

Amy L Roberts, Alessandro Morea, Ariella Amar, Magdalena West, Sarah Karrar, Rhiannon Lehane, Philip Tombleson, Deborah Cunningham Grahman, John A Reynolds, Chloe C Y Wong and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of the rheumatic diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Amy L RobertsTwin Research and Genetic Epidemiology, King's College London, London, UK amy.roberts@kcl.ac.uk kerrin.small@kcl.ac.uk.ORCID http://orcid.org/0000-0002-5704-9249
Alessandro MoreaTwin Research and Genetic Epidemiology, King's College London, London, UK.
Ariella AmarDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Magdalena WestDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Sarah KarrarDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Rhiannon LehaneDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Philip TomblesonDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Deborah Cunningham GrahmanDepartment of Medical and Molecular Genetics, King's College London, London, UK.
John A ReynoldsInstitute of Inflammation and Ageing, University of Birmingham, Birmingham, UK.
Chloe C Y WongInstitute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
David L MorrisMedical and Molecular Genetics, King's College London, London, UK.ORCID http://orcid.org/0000-0002-1754-8932
Kerrin S Small *Twin Research and Genetic Epidemiology, King's College London, London, UK amy.roberts@kcl.ac.uk kerrin.small@kcl.ac.uk.ORCID http://orcid.org/0000-0003-4566-0005
Timothy J Vyse *Genetics, King's College London, London, UK.ORCID http://orcid.org/0000-0003-1123-1464

Funding

Wellcome Trust
6 · The paper itself

Abstract

objectivesSystemic lupus erythematosus (SLE) shows a marked female bias in prevalence. X chromosome inactivation (XCI) is the mechanism which randomly silences one X chromosome to equalise gene expression between 46, XX females and 46, XY males. Though XCI is expected to result in a random pattern of mosaicism across tissues, some females display a significantly skewed ratio in immune cells, termed XCI-skew. We tested whether XCI was abnormal in females with SLE and hence contributes to sexual dimorphism.

methodsWe assayed XCI in whole blood DNA in 181 female SLE cases, 796 female healthy controls and 10 twin pairs discordant for SLE. Using regression modelling and intra-twin comparisons, we assessed the effect of SLE on XCI and combined clinical, cellular and genetic data via a polygenic score to explore underlying mechanisms.

resultsAccommodating the powerful confounder of age, XCI-skew was reduced in females with SLE compared with controls (p=1.3×10

conclusionsThese 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.

Indexed as

Hematopoietic Stem CellsLupus Erythematosus, SystemicX Chromosome InactivationAdultCase-Control StudiesFemaleHumansInterferon Type IMaleMiddle AgedSex CharacteristicsYoung AdultInterferon Type IAutoimmune DiseasesLupus Erythematosus, SystemicPolymorphism, Genetic

Identifiers

PMID38937070
PMCPMC11503196

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.