ArticleHuman molecular genetics2012
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 4 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 4 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- Transethnic meta-analysis identifiesAnnals of the rheumatic diseases · 2017Pooled it
- Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.Annals of the rheumatic diseases · 2016Pooled it
- A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.Arthritis research & therapy · 2014Pooled it
- Association ofInternational journal of molecular sciences · 2026Article
- Immunogenetics of Systemic Sclerosis.Genes · 2024Review
- TYK2: an emerging therapeutic target in rheumatic disease.Nature reviews. Rheumatology · 2024Review
- The Immunogenetics of Systemic Sclerosis.Advances in experimental medicine and biology · 2022Article
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Pathogenesis and Function of Interleukin-35 in Rheumatoid Arthritis.Frontiers in pharmacology · 2021Review
- Genetics of systemic sclerosis.Journal of scleroderma and related disorders · 2020Review
- Molecular "omic" signatures in systemic sclerosis.European journal of rheumatology · 2020Review
- Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis.Current rheumatology reports · 2019Review
- Association and Interaction Effects of Interleukin-12 Related Genes and Physical Activity on Cognitive Aging in Old Adults in the Taiwanese Population.Frontiers in neurology · 2019Article
- New insights into the genetics and epigenetics of systemic sclerosis.Nature reviews. Rheumatology · 2018Review
- Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.PloS one · 2018Article
- Transancestral mapping and genetic load in systemic lupus erythematosus.Nature communications · 2017Article
- Article
- Genetics of autoimmune diseases: perspectives from genome-wide association studies.International immunology · 2016Review
- Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.Arthritis & rheumatology (Hoboken, N.J.) · 2016Article
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41 authors at 20 institutions in 8 countries.
Funding
Abstract
A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [P(MH)= 1.92 × 10(-5) odds ratio (OR) = 1.19] as the genetic variant with the firmest independent association observed in the analyzed GWAS peak of association. After the first follow-up phase, only the association of rs3790567 was consistent (P(MH)= 4.84 × 10(-3) OR = 1.12). The second follow-up phase confirmed this finding (P(χ2) = 2.82 × 10(-4) OR = 1.34). After performing overall pooled-analysis of all the cohorts included in the present study, the association found for the rs3790567 SNP in the IL12RB2 gene region reached GWAS-level significant association (P(MH)= 2.82 × 10(-9) OR = 1.17). Our data clearly support the IL12RB2 genetic association with SSc, and suggest a relevant role of the interleukin 12 signaling pathway in SSc pathogenesis.
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