ArticleHuman molecular genetics2012
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
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 51 papers, 7 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 7 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.Genome medicine · 2018Pooled it
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- Transethnic meta-analysis identifiesAnnals of the rheumatic diseases · 2017Pooled it
- 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
- A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.Arthritis research & therapy · 2014Pooled it
- Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.Annals of the rheumatic diseases · 2013Pooled it
- A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.Human molecular genetics · 2013Pooled it
- Advances in the Molecular Mechanisms of Pulmonary Fibrosis in Systemic Sclerosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Immune and genetic landscapes of biliary atresia: a pathway to precision medicine.BMC pediatrics · 2025Article
- Critical Analysis of Cytoplasmic Progression of Inflammatory Signaling Suggests Potential Pharmacologic Targets for Wound Healing and Fibrotic Disorders.Biomedicines · 2024Review
- A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren's Syndrome.Clinical reviews in allergy & immunology · 2023Review
- NF-кB c-Rel modulates pre-fibrotic changes in human fibroblasts.Archives of dermatological research · 2022Article
- Dysregulated B cell function and disease pathogenesis in systemic sclerosis.Frontiers in immunology · 2022Review
- Altered Cellular Immunity and Differentially Expressed Immune-Related Genes in Patients With Systemic Sclerosis-Associated Pulmonary Arterial Hypertension.Frontiers in immunology · 2022Article
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Circular RNA circPSD3 alleviates hepatic fibrogenesis by regulating the miR-92b-3p/Smad7 axis.Molecular therapy. Nucleic acids · 2021Article
- Genetics of systemic sclerosis.Journal of scleroderma and related disorders · 2020Review
- Molecular "omic" signatures in systemic sclerosis.European journal of rheumatology · 2020Review
- Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci.Genome medicine · 2020Article
- Uncommon presentation of morphea related to interferon beta in a patient with concomitant multiple sclerosis and chronic hepatitis C: A case report.Clinical case reports · 2020Article
Corrections and comments
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Authors and funding
41 authors at 20 institutions in 6 countries.
Funding
Abstract
Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc. We selected 768 polymorphisms from the previous GWAS and genotyped them in seven replication cohorts from Europe. Overall significance was calculated for replicated significant SNPs by meta-analysis of the replication cohorts and replication-GWAS cohorts (3237 cases and 6097 controls). Six SNPs in regions not previously associated with SSc were selected for validation in another five independent cohorts, up to a total of 5270 SSc patients and 8326 controls. We found evidence for replication and overall genome-wide significance for one novel SSc genetic risk locus: CSK [P-value = 5.04 × 10(-12), odds ratio (OR) = 1.20]. Additionally, we found suggestive association in the loci PSD3 (P-value = 3.18 × 10(-7), OR = 1.36) and NFKB1 (P-value = 1.03 × 10(-6), OR = 1.14). Additionally, we strengthened the evidence for previously confirmed associations. This study significantly increases the number of known putative genetic risk factors for SSc, including the genes CSK, PSD3 and NFKB1, and further confirms six previously described ones.
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