ArticleArthritis & rheumatology (Hoboken, N.J.)2017
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.
Article in Arthritis & rheumatology (Hoboken, N.J.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- TLR7 and TLR9 have overlapping but distinct roles in systemic lupus erythematosus and Sjögren's disease.Frontiers in immunology · 2026Review
- Sjögren's Syndrome: Epidemiology, Classification Criteria, Molecular Pathogenesis, Diagnosis, and Treatment.MedComm · 2025Review
- Genetic, Transcriptomic, and Epigenomic Insights into Sjögren's Disease: An Integrative Network Investigation and Immune Diseases Comparison.International journal of molecular sciences · 2025Article
- Genetic and epigenetic factors shape phenotypes and outcomes in systemic lupus erythematosus - focus on juvenile-onset systemic lupus erythematosus.Current opinion in rheumatology · 2025Review
- The human-specific noncoding RNAFASEB bioAdvances · 2025Article
- The toll like receptor 7 pathway and the sex bias of systemic lupus erythematosus.Frontiers in immunology · 2025Article
- Lifelong medical challenges and immunogenetics of Turner syndrome.Clinical and experimental pediatrics · 2024Article
- A comprehensive review of Sjögren's syndrome: Classification criteria, risk factors, and signaling pathways.Heliyon · 2024Review
- Vitamin D in Primary Sjogren's Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Long Non-Coding RNAs in Sjögren's Disease.International journal of molecular sciences · 2024Review
- Impaired dynamic X-chromosome inactivation maintenance in T cells is a feature of spontaneous murine SLE that is exacerbated in female-biased models.Journal of autoimmunity · 2023Article
- Cardiac and vascular complications in lupus: Is there a role for sex?Frontiers in immunology · 2023Review
- X-linked genes exhibit miR6891-5p-regulated skewing in Sjögren's syndrome.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Systemic lupus erythematosus with trisomy X: a case report and review of the literature.Journal of medical case reports · 2022Review
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Nucleic acid-sensing toll-like receptors: Important players in Sjögren's syndrome.Frontiers in immunology · 2022Review
- Genetics and epigenetics in primary Sjögren's syndrome.Rheumatology (Oxford, England) · 2021Review
- TLR7 Signaling Drives the Development of Sjögren's Syndrome.Frontiers in immunology · 2021Article
- Sjögren Syndrome without Focal Lymphocytic Infiltration of the Salivary Glands.The Journal of rheumatology · 2020Article
Corrections and comments
- Commented on byReply.2018
- Commented on by
Authors and funding
49 authors at 20 institutions in 12 countries.
Funding
Abstract
objectiveSjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome.
methodsWe examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients.
resultsAmong ~2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in ~1 in 25,000-50,000 live female births, while partial triplications are even rarer.
conclusionVery rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.