ArticlePloS one2014
Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 8 of them syntheses that pooled it.
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Who cites it
74 citing papers in PubMed, 8 syntheses or guidelines pooled it, 124 citations in OpenAlex.
- Sexually Dimorphic Neuroimmune Pathways in Chronic Pain: A Comprehensive Systematic Review of Cellular and Molecular Mechanisms.Biomolecules · 2026Pooled it
- X-linked genetic associations in sporadic thoracic aortic dissection.American journal of medical genetics. Part A · 2024Pooled it
- X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.Respiratory research · 2023Pooled it
- A systematic review of analytical methods used in genetic association analysis of the X-chromosome.Briefings in bioinformatics · 2022Pooled it
- The association ofBioscience reports · 2019Pooled it
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.Nature genetics · 2016Pooled it
- No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.Scientific reports · 2016Pooled it
- Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.Nature medicine · 2015Pooled it
- Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.Brain : a journal of neurology · 2026Article
- Immune markers mediate genetic relationships between immune diseases and psychiatric disorders.PLoS genetics · 2026Article
- Genome-wide association study identifies and validates genetic variation in the RIG-I/MAVS signaling pathway associated with HIV-related Kaposi sarcoma in children and adults.Frontiers in oncology · 2026Article
- From Cytokines to Biomarkers: Mapping the Immunopathology of Inflammatory Bowel Disease.Cells · 2025Review
- Examining the genetic links between clusters of immune-mediated diseases and psychiatric disorders.Translational psychiatry · 2025Article
- [CENPI promotes the migration of liver cancer cells and the epithelial-mesenchymal transition process by activating the RAS/MEK/ERK signaling axis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- Winnie Mice: A Chronic and Progressive Model of Ulcerative Colitis.Inflammatory bowel diseases · 2025Review
- Identifying X-chromosome variants associated with age-related macular degeneration.Human molecular genetics · 2024Article
- Sex-Related Differences in Pancreatic Ductal Adenocarcinoma Progression and Response to Therapy.International journal of molecular sciences · 2024Review
- DNA methylation differences between the female and male X chromosomes in human brain.bioRxiv : the preprint server for biology · 2024Article
- Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.NPJ Parkinson's disease · 2024Article
- Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.Biology of sex differences · 2023Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Many complex human diseases are highly sexually dimorphic, suggesting a potential contribution of the X chromosome to disease risk. However, the X chromosome has been neglected or incorrectly analyzed in most genome-wide association studies (GWAS). We present tailored analytical methods and software that facilitate X-wide association studies (XWAS), which we further applied to reanalyze data from 16 GWAS of different autoimmune and related diseases (AID). We associated several X-linked genes with disease risk, among which (1) ARHGEF6 is associated with Crohn's disease and replicated in a study of ulcerative colitis, another inflammatory bowel disease (IBD). Indeed, ARHGEF6 interacts with a gastric bacterium that has been implicated in IBD. (2) CENPI is associated with three different AID, which is compelling in light of known associations with AID of autosomal genes encoding centromere proteins, as well as established autosomal evidence of pleiotropy between autoimmune diseases. (3) We replicated a previous association of FOXP3, a transcription factor that regulates T-cell development and function, with vitiligo; and (4) we discovered that C1GALT1C1 exhibits sex-specific effect on disease risk in both IBDs. These and other X-linked genes that we associated with AID tend to be highly expressed in tissues related to immune response, participate in major immune pathways, and display differential gene expression between males and females. Combined, the results demonstrate the importance of the X chromosome in autoimmunity, reveal the potential of extensive XWAS, even based on existing data, and provide the tools and incentive to properly include the X chromosome in future studies.
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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.