SynthesisGenes and immunity2012
The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis.
Synthesis in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Identification of an Association of TNFAIP3 Polymorphisms With Matrix Metalloproteinase Expression in Fibroblasts in an Integrative Study of Systemic Sclerosis-Associated Genetic and Environmental Factors.Arthritis & rheumatology (Hoboken, N.J.) · 2016Pooled it
- Linking regulatory variants to target genes by integrating single-cell multiome methods and genomic distance.Nature genetics · 2025Article
- Article
- The Immunogenetics of Systemic Sclerosis.Advances in experimental medicine and biology · 2022Article
- Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes.American journal of human genetics · 2021Article
- Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population.Journal of immunology research · 2020Article
- Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era.Genes · 2018Review
- Genetics of systemic sclerosis: recent advances.Current opinion in rheumatology · 2015Review
- Genetics, Epigenetics, and Genomics of Systemic Sclerosis.Rheumatic diseases clinics of North America · 2015Review
- Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.Current rheumatology reports · 2015Review
- Pathogenesis of Systemic Sclerosis.Frontiers in immunology · 2015Review
- Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes.The open rheumatology journal · 2014Article
- Statistical testing of shared genetic control for potentially related traits.Genetic epidemiology · 2013Article
- Genetic basis of alopecia areata: a roadmap for translational research.Dermatologic clinics · 2013Review
- The genetics of scleroderma: looking into the postgenomic era.Current opinion in rheumatology · 2012Review
- Unraveling the genetic component of systemic sclerosis.Human genetics · 2012Review
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Regulatory T cells (T(regs)) are crucial in the maintenance of the immune tolerance and seem to have an important role in systemic sclerosis (SSc). The interleukin 2 receptor α (IL2RA) is an important T(reg) marker, and polymorphisms of IL2RA gene are associated with a number of autoimmune diseases. Therefore, we aimed to investigate for the first time the association of the IL2RA locus in SSc. For this purpose, a total of 3023 SSc patients and 2735 matched healthy controls, from six European Caucasian cohorts, were genotyped for the IL2RA gene variants rs11594656, rs2104286 and rs12722495 using the TaqMan allelic discrimination technology. The overall meta-analysis reached statistical significance when the three polymorphisms were tested for association with SSc, the limited subtype (lcSSc) and anti-centromere auto-antibodies (ACAs). However, no significant P-values were obtained when the ACA-positive patients were removed from the SSc and lcSSc groups, suggesting that these associations rely on ACA positivity. The strongest association signal with ACA production was detected for rs2104286 (P(FDR)=2.07 × 10(-4), odds ratio=1.30 (1.14-1.47)). The associations of rs11594656 and rs12722495 were lost after conditioning to rs2104286, and allelic combination tests did not evidence a combined effect, indicating that rs2104286 best described the association between IL2RA and ACA presence in SSc.
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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.