ArticleProceedings of the National Academy of Sciences of the United States of America2007
Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 101 citations in OpenAlex.
- The protein tyrosine phosphatase Lyp/PTPN22 drives TNFα-induced priming of superoxide anions production by neutrophils and arthritis.Free radical biology & medicine · 2025Article
- Article
- Protein phosphatases in systemic autoimmunity.Immunometabolism (Cobham, Surrey) · 2025Review
- Regulation of T Cell Signaling and Immune Responses by PTPN22.Molecular and cellular biology · 2024Review
- Article
- Association of MTMR3 rs12537 at miR-181a binding site with rheumatoid arthritis and systemic lupus erythematosus risk in Egyptian patients.Scientific reports · 2019Article
- Protein tyrosine phosphatase non-receptor type 22 modulates colitis in a microbiota-dependent manner.The Journal of clinical investigation · 2019Article
- Genome-Wide SNP Discovery in Indigenous Cattle Breeds of South Africa.Frontiers in genetics · 2019Article
- Antibody repertoire analysis in polygenic autoimmune diseases.Immunology · 2018Review
- Protein Tyrosine Phosphatases: Regulators of CD4 T Cells in Inflammatory Bowel Disease.Frontiers in immunology · 2018Review
- Article
- The Innate Immune System: A Trigger for Many Chronic Inflammatory Intestinal Diseases.Inflammatory intestinal diseases · 2016Review
- The role for protein tyrosine phosphatase non-receptor type 22 in regulating intestinal homeostasis.United European gastroenterology journal · 2016Review
- NLRP3 tyrosine phosphorylation is controlled by protein tyrosine phosphatase PTPN22.The Journal of clinical investigation · 2016Article
- Article
- Role of protein tyrosine phosphatases in regulating the immune system: implications for chronic intestinal inflammation.Inflammatory bowel diseases · 2015Review
- PTPN22: the archetypal non-HLA autoimmunity gene.Nature reviews. Rheumatology · 2014Review
- Influence of molecular genetics in Vogt-Koyanagi-Harada disease.Journal of ophthalmic inflammation and infection · 2014Review
- Article
- Towards systemic sclerosis and away from primary biliary cirrhosis: the case of PTPN22.Auto- immunity highlights · 2012Review
Corrections and comments
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Authors and funding
28 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those multifactorial diseases. The RA association was usually restricted to serum rheumatoid factor positive disease (RF+). No interaction was shown with HLA-DRB1, the first RA gene. Many case-control studies replicated the RA association, showing an allele frequency increase of approximately 5% on average and large variations of population allele frequencies (2.1-15.5%). In multifactorial diseases, the final proof for a new susceptibility allele is provided by departure from Mendel's law (50% transmission from heterozygous parents). For PTPN22-1858T allele, convincing linkage proof was available only for type 1 diabetes. We aimed at providing this proof for RA. We analyzed 1,395 West European Caucasian individuals from 465 "trio" families. We replicated evidence for linkage, demonstrating departure from Mendel's law in this subset of early RA onset patients. We estimated the overtransmission of the 1858T allele in RF+ families: T = 63%, P < 0.0007. The 1858T allele frequency increased from 11.0% in controls to 17.4% in RF+ RA for the French Caucasian population and the susceptibility genotype (1858T/T or T/C) from 20.2% to 31.6% [odds ratio (OR) = 1.8 (1.2-2.8)]. In conclusion, we provided the linkage proof for the PTPN22-1858T allele and RF+ RA. With diabetes and RA, PTPN22 is therefore a "linkage-proven" autoimmunity gene. PTPN22 accounting for approximately 1% of the RA familial aggregation, many new genes could be expected that are as many leads to definitive therapy for autoimmune diseases.
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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.