SynthesisAnnals of the rheumatic diseases2013
Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.
Synthesis in Annals of the rheumatic diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 5 of them syntheses 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
29 citing papers in PubMed, 5 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Deciphering autoimmune susceptibility: a meta-analysis of PTPN22 gene variants.Immunologic research · 2025Pooled it
- Gene and miRNA expression in giant cell arteritis-a concise systematic review of significantly modified studies.Clinical rheumatology · 2019Pooled it
- Association Between Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Polymorphisms and Risk of Ankylosing Spondylitis: A Meta-analysis.Medical science monitor : international medical journal of experimental and clinical research · 2017Pooled it
- Aspirin as adjunctive treatment for giant cell arteritis.The Cochrane database of systematic reviews · 2014Pooled it
- A candidate gene approach identifies an IL33 genetic variant as a novel genetic risk factor for GCA.PloS one · 2014Pooled it
- Familial associations between ANCA-associated vasculitis and other immune-mediated inflammatory diseases: a case control study.Rheumatology international · 2026Article
- Large vessel vasculitis reframed: integrating conceptual shifts and evidence into practice for Takayasu arteritis and giant cell arteritis.Journal of rheumatic diseases · 2026Review
- Review
- Giant Cell Arteritis: Advances in Understanding Pathogenesis and Implications for Clinical Practice.Cells · 2024Review
- The contributions of deleterious rare alleles in NLRP12 and inflammasome-related genes to polymyalgia rheumatica.Scientific reports · 2024Article
- Genetics of ANCA-associated vasculitis: role in pathogenesis, classification and management.Nature reviews. Rheumatology · 2022Review
- Genetic Polymorphism ofMedicina (Kaunas, Lithuania) · 2022Review
- Large-vessel vasculitis.Nature reviews. Disease primers · 2022Review
- Elderly-onset rheumatoid arthritis vs. polymyalgia rheumatica: Differences in pathogenesis.Frontiers in medicine · 2022Review
- Modulation ofInternational journal of molecular sciences · 2021Article
- Modulation of TCR Signaling by Tyrosine Phosphatases: From Autoimmunity to Immunotherapy.Frontiers in cell and developmental biology · 2020Review
- Genetic Predispositions of Glucocorticoid Resistance and Therapeutic Outcomes in Polymyalgia Rheumatica and Giant Cell Arteritis.Journal of clinical medicine · 2019Review
- The Contribution of PTPN22 to Rheumatic Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2019Review
- Leveraging Genetic Findings for Precision Medicine in Vasculitis.Frontiers in immunology · 2019Review
- Role ofWorld journal of gastroenterology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 20 institutions in 4 countries.
Funding
Abstract
objectiveTo analyse the role of the PTPN22 and CSK genes, previously associated with autoimmunity, in the predisposition and clinical phenotypes of giant cell arteritis (GCA).
methodsOur study population was composed of 911 patients diagnosed with biopsy-proven GCA and 8136 unaffected controls from a Spanish discovery cohort and three additional independent replication cohorts from Germany, Norway and the UK. Two functional PTPN22 polymorphisms (rs2476601/R620W and rs33996649/R263Q) and two variants of the CSK gene (rs1378942 and rs34933034) were genotyped using predesigned TaqMan assays.
resultsThe analysis of the discovery cohort provided evidence of association of PTPN22 rs2476601/R620W with GCA (PFDR=1.06E-04, OR=1.62, CI 95% 1.29 to 2.04). The association did not appear to follow a specific GCA subphenotype. No statistically significant differences between allele frequencies for the other PTPN22 and CSK genetic variants were evident either in the case/control or in stratified case analysis. To confirm the detected PTPN22 association, three replication cohorts were genotyped, and a consistent association between the PTPN22 rs2476601/R620W variant and GCA was evident in the overall meta-analysis (PMH=2.00E-06, OR=1.51, CI 95% 1.28 to 1.79).
conclusionsOur results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA.
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.