SynthesisAnnals of the rheumatic diseases2011
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.
Synthesis in Annals of the rheumatic diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 42 papers, 6 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
42 citing papers in PubMed, 6 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Impact of Innovative Treatment Using Biological Drugs for the Modulation of Diffuse Cutaneous Systemic Sclerosis: A Systematic Review.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.Annals of the rheumatic diseases · 2013Pooled it
- Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue.Genes and immunity · 2012Pooled it
- Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.The Journal of rheumatology · 2012Pooled it
- The association between the PTPN22 C1858T polymorphism and systemic sclerosis: a meta-analysis.Molecular biology reports · 2012Pooled it
- Recent Advances in Biomarkers of Systemic Sclerosis-Associated Interstitial Lung Disease: Clinical Relevance and Therapeutic Perspectives.Life (Basel, Switzerland) · 2026Review
- Role of the PTPN22 C1858T (R263Q) variant in tuberculosis susceptibility: genetic and functional evidence from a South Asian cohort.BMC medical genomics · 2026Article
- Review
- Immune System-Related Genetic Risk Factors for Inhibitory Antibody Development in Patients With Hemophilia: Reviewing an Old Problem From a New Perspective-A Narrative Review.Health science reports · 2025Article
- A causal relationship between type 1 diabetes and risk of systemic sclerosis: a bidirectional two-sample Mendelian randomization study.Diabetology & metabolic syndrome · 2025Article
- Genetic Polymorphism ofMedicina (Kaunas, Lithuania) · 2022Review
- Systemic Scleroderma-Definition, Clinical Picture and Laboratory Diagnostics.Journal of clinical medicine · 2022Review
- The Pathophysiological Roles of Regulatory T Cells in the Early Phase of Systemic Sclerosis.Frontiers in immunology · 2022Review
- The Immunogenetics of Systemic Sclerosis.Advances in experimental medicine and biology · 2022Article
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Classical Disease-Specific Autoantibodies in Systemic Sclerosis: Clinical Features, Gene Susceptibility, and Disease Stratification.Frontiers in medicine · 2020Review
- Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System.Molecules (Basel, Switzerland) · 2019Review
- Article
- Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis.BMC endocrine disorders · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
41 authors at 20 institutions in 8 countries.
Funding
Abstract
objectiveTwo functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity. The aim of this study was to investigate the role of the R263Q SNP for the first time and to re-evaluate the role of the R620W SNP in the genetic predisposition to systemic sclerosis (SSc) susceptibility and clinical phenotypes.
methods3422 SSc patients (2020 with limited cutaneous SSc and 1208 with diffuse cutaneous SSc) and 3638 healthy controls of Caucasian ancestry from an initial case--control set of Spain and seven additional independent replication cohorts were included in our study. Both rs33996649 and rs2476601 PTPN22 polymorphisms were genotyped by TaqMan allelic discrimination assay. A meta-analysis was performed to test the overall effect of these PTPN22 polymorphisms in SSc.
resultsThe meta-analysis revealed evidence of association of the rs2476601 T allele with SSc susceptibility (p(FDRcorrected)=0.03 pooled, OR 1.15, 95% CI 1.03 to 1.28). In addition, the rs2476601 T allele was significantly associated with anticentromere-positive status (p(FDRcorrected)=0.02 pooled, OR 1.22, 95% CI 1.05 to 1.42). Although the rs33996649 A allele was significantly associated with SSc in the Spanish population (p(FDRcorrected)=0.04, OR 0.58, 95% CI 0.36 to 0.92), this association was not confirmed in the meta-analysis (p=0.36 pooled, OR 0.89, 95% CI 0.72 to 1.1).
conclusionThe study suggests that the PTPN22 R620W polymorphism influences SSc genetic susceptibility but the novel R263Q genetic variant does not. These data strengthen evidence that the R620W mutation is a common risk factor in autoimmune diseases.
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.