SynthesisNature communications2019
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 8 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 8 pooled it
–field-weighted citation impact
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
109 citing papers in PubMed, 8 syntheses or guidelines pooled it.
- Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study.The Lancet. Rheumatology · 2026Pooled it
- Novel pleiotropic loci link vascular and immune pathways in systemic sclerosis and primary Raynaud's phenomenon.Rheumatology (Oxford, England) · 2026Pooled it
- Anti-RNA polymerase III antibodies in systemic sclerosis: prevalence and clinical associations from a systematic review and meta-analysis.Rheumatology (Oxford, England) · 2025Pooled it
- Cross-Phenotype Genome-Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.Arthritis & rheumatology (Hoboken, N.J.) · 2025Pooled it
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.Nature communications · 2024Pooled it
- A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease.Nature communications · 2024Pooled it
- Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.Nature communications · 2023Pooled it
- Novel HLA class I and II insights into the pathogenesis of systemic sclerosis-associated interstitial lung disease.Annals of the rheumatic diseases · 2026Article
- Cellular and molecular dysregulation of the esophageal epithelium in systemic sclerosis.JCI insight · 2026Article
- rs57494551 increases CXCR5 expression and IgMJournal of gastroenterology · 2026Article
- Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.Annals of the rheumatic diseases · 2026Article
- A symposium update on the key perspectives in systemic sclerosis and systemic lupus erythematosus.Journal of translational autoimmunity · 2026Review
- Genetic overlap between autoimmune disorders and anorexia nervosa: insights from a large-scale cross-trait genome-wide analysis.Journal of eating disorders · 2026Article
- Distinct Effects of Complement C4A and C4B Copy Numbers in Systemic Sclerosis Serological and Clinical Subtypes.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Transcriptional landscape of CD4+ T cells in Systemic Sclerosis.bioRxiv : the preprint server for biology · 2026Article
- Characterizing the effects of genetic liability to autoimmune conditions on pregnancy outcomes using Mendelian randomization.BMC medicine · 2026Article
- Genetic and Genomic Analysis of Systemic Sclerosis: A Narrative Review of the Recent Advancement.JMA journal · 2026Review
- Integrating Single-Cell Transcriptomics and Mendelian Randomization to Identify RAC1 as a Causal Metabolic Driver of Pericyte Dysfunction in Systemic Sclerosis.Mediators of inflammation · 2026Article
- Article
49 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
44 authors.
Elena López-IsacInstitute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain. eisac.csic@gmail.com.
Marialbert Acosta-HerreraInstitute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain.
Martin KerickInstitute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain.
Shervin AssassiThe University of Texas Health Science Center-Houston, Houston, USA.
Ansuman T SatpathyCenter for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-5167-537X
Jeffrey GranjaCenter for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, CA, USA.
Maxwell R MumbachCenter for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, CA, USA.
Lorenzo BerettaReferral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.
Carmen P SimeónDepartment of Internal Medicine, Valle de Hebrón Hospital, Barcelona, Spain.
Patricia CarreiraDepartment of Rheumatology, 12 de Octubre University Hospital, Madrid, Spain.
Norberto Ortego-CentenoDepartment of Internal Medicine, San Cecilio Clinic University Hospital, Granada, Spain.
Ivan CastellviDepartment of Rheumatology, Santa Creu i Sant Pau University Hospital, Barcelona, Spain.
Lara Bossini-CastilloWellcome Trust Sanger Institute, Hinxton, UK.
F David CarmonaDepartment of Genetics and Institute of Biotechnology, University of Granada, Granada, Spain.ORCID http://orcid.org/0000-0002-1427-7639
Gisela OrozcoArthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Oxford Road, Manchester, UK.ORCID http://orcid.org/0000-0002-3479-0448
Nicolas HunzelmannDepartment of Dermatology, University of Cologne, Cologne, Germany.
Jörg H W DistlerDepartment of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.ORCID http://orcid.org/0000-0003-1530-5811
Claudio LunardiDepartment of Medicine, Università degli Studi di Verona, Verona, Italy.
Gianluca MoronciniClinica Medica, Department of Clinical and Molecular Science, Università Politecnica delle Marche and Ospedali Riuniti, Ancona, Italy.
Armando GabrielliClinica Medica, Department of Clinical and Molecular Science, Università Politecnica delle Marche and Ospedali Riuniti, Ancona, Italy.
Jeska de Vries-BouwstraDepartment of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
Cisca WijmengaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Bobby P C KoelemanUniversity Medical Center Utrecht, Utrecht, The Netherlands.
Annika NordinDivision of Rheumatology, Department of Medicine, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden.
Leonid PadyukovDivision of Rheumatology, Department of Medicine, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-2950-5670
Anna-Maria Hoffmann-VoldDepartment of Rheumatology, Oslo University Hospital, Oslo, Norway.
Benedicte LieDepartment of Medical Genetics, and the Department of Immunology, University of Oslo and Oslo University Hospital, Oslo, Norway.
European Scleroderma Group†
Susanna ProudmanRoyal Adelaide Hospital and University of Adelaide, Adelaide, SA, Australia.
Wendy StevensSt. Vincent's Hospital, Melbourne, VIC, Australia.
Mandana NikpourThe University of Melbourne at St. Vincent's Hospital, Melbourne, VIC, Australia.
Australian Scleroderma Interest Group (ASIG)
Timothy VyseDepartment of Medical and Molecular Genetics, King's College London, London, UK.ORCID http://orcid.org/0000-0003-1123-1464
Ariane L HerrickCentre for Musculoskeletal Research, The University of Manchester, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Jane WorthingtonArthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Oxford Road, Manchester, UK.
Christopher P DentonCentre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom.
Yannick AllanoreDepartment of Rheumatology A, Cochin Hospital, INSERM U1016, Paris Descartes University, Paris, France.ORCID http://orcid.org/0000-0002-6149-0002
Matthew A BrownInstitute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0003-0538-8211
Timothy R D J RadstakeDepartment of Rheumatology & Clinical Immunology, Laboratory of Translational Immunology, department of Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
Carmen FonsecaCentre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom.
Howard Y ChangCenter for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-9459-4393
Maureen D MayesThe University of Texas Health Science Center-Houston, Houston, USA.ORCID http://orcid.org/0000-0001-5070-2535
Javier MartinInstitute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain. javiermartin@ipb.csic.es.
Funding
Special EquipmentP50HG007735 · NHGRI · STANFORD UNIVERSITY · PI SNYDER, MICHAEL P. · 2014 to 2018
$15.2MInstitutional Career Development CoreKL2TR003168 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILLER, CHARLES C · 2019 to 2023
$4.9MNCATS NIH HHS KL2 TR003168NHGRI NIH HHS P50 HG007735Versus Arthritis 21348Wellcome Trust 207491/Z/17/Z
Abstract
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
Indexed as
Bayes TheoremChromatin ImmunoprecipitationFibrosisGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansNucleic Acid ConformationPolymorphism, Single NucleotideScleroderma, SystemicSequence Analysis, DNAVascular Diseases
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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.