Nature Communications (Oct 2019)
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
- Elena López-Isac,
- Marialbert Acosta-Herrera,
- Martin Kerick,
- Shervin Assassi,
- Ansuman T. Satpathy,
- Jeffrey Granja,
- Maxwell R. Mumbach,
- Lorenzo Beretta,
- Carmen P. Simeón,
- Patricia Carreira,
- Norberto Ortego-Centeno,
- Ivan Castellvi,
- Lara Bossini-Castillo,
- F. David Carmona,
- Gisela Orozco,
- Nicolas Hunzelmann,
- Jörg H. W. Distler,
- Andre Franke,
- Claudio Lunardi,
- Gianluca Moroncini,
- Armando Gabrielli,
- Jeska de Vries-Bouwstra,
- Cisca Wijmenga,
- Bobby P. C. Koeleman,
- Annika Nordin,
- Leonid Padyukov,
- Anna-Maria Hoffmann-Vold,
- Benedicte Lie,
- European Scleroderma Group†,
- Susanna Proudman,
- Wendy Stevens,
- Mandana Nikpour,
- Australian Scleroderma Interest Group (ASIG),
- Timothy Vyse,
- Ariane L. Herrick,
- Jane Worthington,
- Christopher P. Denton,
- Yannick Allanore,
- Matthew A. Brown,
- Timothy R. D. J. Radstake,
- Carmen Fonseca,
- Howard Y. Chang,
- Maureen D. Mayes,
- Javier Martin
Affiliations
- Elena López-Isac
- Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC
- Marialbert Acosta-Herrera
- Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC
- Martin Kerick
- Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC
- Shervin Assassi
- The University of Texas Health Science Center–Houston
- Ansuman T. Satpathy
- Center for Personal Dynamic Regulomes, Stanford University School of Medicine
- Jeffrey Granja
- Center for Personal Dynamic Regulomes, Stanford University School of Medicine
- Maxwell R. Mumbach
- Center for Personal Dynamic Regulomes, Stanford University School of Medicine
- Lorenzo Beretta
- Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano
- Carmen P. Simeón
- Department of Internal Medicine, Valle de Hebrón Hospital
- Patricia Carreira
- Department of Rheumatology, 12 de Octubre University Hospital
- Norberto Ortego-Centeno
- Department of Internal Medicine, San Cecilio Clinic University Hospital
- Ivan Castellvi
- Department of Rheumatology, Santa Creu i Sant Pau University Hospital
- Lara Bossini-Castillo
- Wellcome Trust Sanger Institute
- F. David Carmona
- Department of Genetics and Institute of Biotechnology, University of Granada
- Gisela Orozco
- Arthritis 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
- Nicolas Hunzelmann
- Department of Dermatology, University of Cologne
- Jörg H. W. Distler
- Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg
- Andre Franke
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Claudio Lunardi
- Department of Medicine, Università degli Studi di Verona
- Gianluca Moroncini
- Clinica Medica, Department of Clinical and Molecular Science, Università Politecnica delle Marche and Ospedali Riuniti
- Armando Gabrielli
- Clinica Medica, Department of Clinical and Molecular Science, Università Politecnica delle Marche and Ospedali Riuniti
- Jeska de Vries-Bouwstra
- Department of Rheumatology, Leiden University Medical Center
- Cisca Wijmenga
- Department of Genetics, University Medical Center Groningen, University of Groningen
- Bobby P. C. Koeleman
- University Medical Center Utrecht
- Annika Nordin
- Division of Rheumatology, Department of Medicine, Karolinska University Hospital, Karolinska Institute
- Leonid Padyukov
- Division of Rheumatology, Department of Medicine, Karolinska University Hospital, Karolinska Institute
- Anna-Maria Hoffmann-Vold
- Department of Rheumatology, Oslo University Hospital
- Benedicte Lie
- Department of Medical Genetics, and the Department of Immunology, University of Oslo and Oslo University Hospital
- European Scleroderma Group†
- Susanna Proudman
- Royal Adelaide Hospital and University of Adelaide
- Wendy Stevens
- St. Vincent’s Hospital
- Mandana Nikpour
- The University of Melbourne at St. Vincent’s Hospital
- Australian Scleroderma Interest Group (ASIG)
- Timothy Vyse
- Department of Medical and Molecular Genetics, King’s College London
- Ariane L. Herrick
- Centre for Musculoskeletal Research, The University of Manchester, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre
- Jane Worthington
- Arthritis 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
- Christopher P. Denton
- Centre for Rheumatology, Royal Free and University College Medical School
- Yannick Allanore
- Department of Rheumatology A, Cochin Hospital, INSERM U1016, Paris Descartes University
- Matthew A. Brown
- Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital
- Timothy R. D. J. Radstake
- Department of Rheumatology & Clinical Immunology, Laboratory of Translational Immunology, department of Immunology, University Medical Center Utrecht
- Carmen Fonseca
- Centre for Rheumatology, Royal Free and University College Medical School
- Howard Y. Chang
- Center for Personal Dynamic Regulomes, Stanford University School of Medicine
- Maureen D. Mayes
- The University of Texas Health Science Center–Houston
- Javier Martin
- Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC
- DOI
- https://doi.org/10.1038/s41467-019-12760-y
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 14
Abstract
Systemic sclerosis (SSc) is a heterogeneous chronic autoimmune disease that affects the connective tissue. Here, López-Isac et al. identify 13 new risk loci for SSc as well as loci specific for limited cutaneous and diffuse SSc and, defining credible sets and performing functional annotation, highlight key pathways and cell types for SSc.
