ArticleAmerican journal of human genetics2005
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 248 papers, 16 of them syntheses that pooled it.
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Who cites it
248 citing papers in PubMed, 16 syntheses or guidelines pooled it, 599 citations in OpenAlex.
- Association of distance to swine concentrated animal feeding operations with immune-mediated diseases: An exploratory gene-environment study.Environment international · 2023Pooled it
- Prevalence of autoimmune thyroid disease in patients with psoriasis: a meta-analysis.BMJ open · 2022Pooled it
- Decreased sleep quality in patients with systemic lupus erythematosus: a meta-analysis.Clinical rheumatology · 2021Pooled it
- The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata: A meta-analysis of case-control studies.Medicine · 2019Pooled it
- Association between tumor necrosis factor polymorphisms and rheumatoid arthritis as well as systemic lupus erythematosus: a meta-analysis.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2019Pooled it
- PTPN22 R620W Polymorphism is Associated with Myasthenia Gravis Risk: A Systematic Review and Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2015Pooled it
- PTPN22 R620W polymorphism and ANCA disease risk in white populations: a metaanalysis.The Journal of rheumatology · 2015Pooled it
- How do autoimmune diseases cluster in families? A systematic review and meta-analysis.BMC medicine · 2013Pooled it
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.PloS one · 2013Pooled it
- Regulation of TCR signalling by tyrosine phosphatases: from immune homeostasis to autoimmunity.Immunology · 2012Pooled it
- PTPN22 C1858T and the risk of psoriasis: a meta-analysis.Molecular biology reports · 2012Pooled it
- Association of TNF-α promoter-308 A/G polymorphism with susceptibility to systemic lupus erythematosus: a meta-analysis.Rheumatology international · 2012Pooled it
- A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.PLoS genetics · 2011Pooled it
- Pervasive sharing of genetic effects in autoimmune disease.PLoS genetics · 2011Pooled it
- Does vitamin D affect risk of developing autoimmune disease?: a systematic review.Seminars in arthritis and rheumatism · 2011Pooled it
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.Nature genetics · 2008Pooled it
- Genome-wide association analyses highlight the neuronal contribution to multiple sclerosis susceptibility.Nature genetics · 2026Article
- Hashimoto's thyroiditis: from pathogenesis to clinical management.Frontiers in endocrinology · 2026Review
- Chronic Stress and Autoimmunity: The Role of HPA Axis and Cortisol Dysregulation.International journal of molecular sciences · 2025Review
- Causal Variants in CHRNA1 and CHRNB1 Genes for Anti-acetylcholine Receptor Antibody Positive Myasthenia Gravis: Evidence from Bayesian Fine-Mapping and Genetic Association Study.Molecular neurobiology · 2025Article
188 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Autoimmune disorders constitute a diverse group of phenotypes with overlapping features and a tendency toward familial aggregation. It is likely that common underlying genes are involved in these disorders. Until very recently, no specific alleles--aside from a few common human leukocyte antigen class II genes--had been identified that clearly associate with multiple different autoimmune diseases. In this study, we describe a unique collection of 265 multiplex families assembled by the Multiple Autoimmune Disease Genetics Consortium (MADGC). At least two of nine "core" autoimmune diseases are present in each of these families. These core diseases include rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), multiple sclerosis (MS), autoimmune thyroid disease (Hashimoto thyroiditis or Graves disease), juvenile RA, inflammatory bowel disease (Crohn disease or ulcerative colitis), psoriasis, and primary Sjogren syndrome. We report that a recently described functional single-nucleotide polymorphism (rs2476601, encoding R620W) in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis. MS did not show association with the PTPN22 risk allele. These findings suggest a common underlying etiologic pathway for some, but not all, autoimmune disorders, and they suggest that MS may have a pathogenesis that is distinct from RA, SLE, and T1D. DNA and clinical data for the MADGC families are available to the scientific community; these data will provide a valuable resource for the dissection of the complex genetic factors that underlie the various autoimmune phenotypes.
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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.