ArticleAnnals of the rheumatic diseases2013
New insight on the Xq28 association with systemic sclerosis.
Article 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 24 papers.
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Who cites it
24 citing papers in PubMed, 68 citations in OpenAlex.
- The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus.Biomolecules · 2020Trial
- Novel HLA class I and II insights into the pathogenesis of systemic sclerosis-associated interstitial lung disease.Annals of the rheumatic diseases · 2026Article
- Recent advances in pulmonary fibrosis: from lung surfactant to the immune connection.Respiratory research · 2026Review
- Clinical characteristics and individualized treatment strategies for children with type 1 diabetes and exogenous insulin antibody syndrome: a retrospective case series and literature review.Frontiers in endocrinology · 2026Review
- Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.Biology of sex differences · 2023Article
- Current Concepts on the Pathogenesis of Systemic Sclerosis.Clinical reviews in allergy & immunology · 2023Review
- The Immunogenetics of Systemic Sclerosis.Advances in experimental medicine and biology · 2022Article
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Pathogenesis of systemic sclerosis associated interstitial lung disease.Journal of scleroderma and related disorders · 2020Article
- The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview.Therapeutic advances in musculoskeletal disease · 2020Review
- Whole-genome bisulfite sequencing in systemic sclerosis provides novel targets to understand disease pathogenesis.BMC medical genomics · 2019Article
- Methyl-CpG-binding protein 2 mediates antifibrotic effects in scleroderma fibroblasts.Annals of the rheumatic diseases · 2018Article
- Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature.European journal of human genetics : EJHG · 2018Review
- IRAK2 is associated with susceptibility to rheumatoid arthritis.Clinical rheumatology · 2018Article
- Article
- IL-13 mediates collagen deposition via STAT6 and microRNA-135b: a role for epigenetics.Scientific reports · 2016Article
- 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
- Pathogenesis of Systemic Sclerosis.Frontiers in immunology · 2015Review
- Genetic Susceptibility to Interstitial Lung Disease Associated with Systemic Sclerosis.Clinical medicine insights. Circulatory, respiratory and pulmonary medicine · 2015Review
Corrections and comments
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Authors and funding
32 authors at 20 institutions in 5 countries.
Funding
Abstract
objectiveTo evaluate whether the systemic sclerosis (SSc)-associated IRAK1 non-synonymous single-nucleotide polymorphism rs1059702 is responsible for the Xq28 association with SSc or whether there are other independent signals in the nearby methyl-CpG-binding protein 2 gene (MECP2).
methodsWe analysed a total of 3065 women with SSc and 2630 unaffected controls from five independent Caucasian cohorts. Four tag single-nucleotide polymorphisms of MECP2 (rs3027935, rs17435, rs5987201 and rs5945175) and the IRAK1 variant rs1059702 were genotyped using TaqMan predesigned assays. A meta-analysis including all cohorts was performed to test the overall effect of these Xq28 polymorphisms on SSc.
resultsIRAK1 rs1059702 and MECP2 rs17435 were associated specifically with diffuse cutaneous SSc (PFDR=4.12×10(-3), OR=1.27, 95% CI 1.09 to 1.47, and PFDR=5.26×10(-4), OR=1.30, 95% CI 1.14 to 1.48, respectively), but conditional logistic regression analysis showed that the association of IRAK1 rs1059702 with this subtype was explained by that of MECP2 rs17435. On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF- (p=0.025, OR=1.26, 95% CI 1.03 to 1.55).
conclusionsOur data clearly suggest the existence of two independent signals within the Xq28 region, one located in IRAK1 related to PF and another in MECP2 related to diffuse cutaneous SSc, indicating that both genes may have an impact on the clinical outcome of the disease.
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