ArticlePloS one2016
Evaluation of X Chromosome Inactivation with Respect to HLA Genetic Susceptibility in Rheumatoid Arthritis and Systemic Sclerosis.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Sex-dependent mechanisms in rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Article
- Sex Differences on the Pharmacokinetics of Drugs for Children with Chronic Kidney Disease: A Narrative Review.Advanced pharmaceutical bulletin · 2024Review
- Haematopoietic stem cell-derived immune cells have reduced X chromosome inactivation skewing in systemic lupus erythematosus.Annals of the rheumatic diseases · 2024Article
- Genetics of Sex Differences in Immunity.Current topics in microbiology and immunology · 2023Article
- Sexual Dimorphism in Interstitial Lung Disease.Biomedicines · 2022Review
- Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study.BMC pregnancy and childbirth · 2022Article
- 47XXY and 47XXX in Scleroderma and Myositis.ACR open rheumatology · 2022Article
- Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis.Genes · 2022Article
- Sex bias in lymphocytes: Implications for autoimmune diseases.Frontiers in immunology · 2022Review
- Review
- The multifaceted functional role of DNA methylation in immune-mediated rheumatic diseases.Clinical rheumatology · 2021Review
- Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.Neurogenetics · 2020Article
- Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis.Scientific reports · 2020Article
- Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview.Therapeutic advances in musculoskeletal disease · 2020Review
- Autoimmunity in women: an eXClinical immunology (Orlando, Fla.) · 2020Review
- Nonendocrine mechanisms of sex bias in rheumatic diseases.Nature reviews. Rheumatology · 2019Review
- Sex bias in autoimmunity.Current opinion in rheumatology · 2019Review
- Sex chromosome abnormalities and psychiatric diseases.Oncotarget · 2017Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutoimmune diseases, including rheumatoid arthritis (RA) and systemic sclerosis (SSc) are characterized by a strong genetic susceptibility from the Human Leucocyte Antigen (HLA) locus. Additionally, disorders of epigenetic processes, in particular non-random X chromosome inactivation (XCI), have been reported in many female-predominant autoimmune diseases. Here we test the hypothesis that women with RA or SSc who are strongly genetically predisposed are less susceptible to XCI bias.
methodsUsing methylation sensitive genotyping of the androgen receptor (AR) gene, XCI profiles were performed in peripheral blood mononuclear cells from 161 women with RA, 96 women with SSc and 100 healthy women. HLA-DRB1 and DQB1 were genotyped. Presence of specific autoantibodies was documented for patients. XCI skewing was defined as having a ratio ≥ 80:20 of cells inactivating the same X chromosome.
results110 women with RA, 68 women with SSc, and 69 controls were informative for the AR polymorphism. Among them 40.9% of RA patients and 36.8% of SSc patients had skewed XCI compared to 17.4% of healthy women (P = 0.002 and 0.018, respectively). Presence of RA-susceptibility alleles coding for the "shared epitope" correlated with higher skewing among RA patients (P = 0.002) and such correlation was not observed in other women, healthy or with SSc. Presence of SSc-susceptibility alleles did not correlate with XCI patterns among SSc patients.
conclusionData demonstrate XCI skewing in both RA and SSc compared to healthy women. Unexpectedly, skewed XCI occurs more often in women with RA carrying the shared epitope, which usually reflects severe disease. This reinforces the view that loss of mosaicism in peripheral blood may be a consequence of chronic autoimmunity.
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