Nature Communications (Nov 2021)
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
- Sarah Grosche,
- Ingo Marenholz,
- Jorge Esparza-Gordillo,
- Aleix Arnau-Soler,
- Erola Pairo-Castineira,
- Franz Rüschendorf,
- Tarunveer S. Ahluwalia,
- Catarina Almqvist,
- Andreas Arnold,
- Australian Asthma Genetics Consortium (AAGC),
- Hansjörg Baurecht,
- Hans Bisgaard,
- Klaus Bønnelykke,
- Sara J. Brown,
- Mariona Bustamante,
- John A. Curtin,
- Adnan Custovic,
- Shyamali C. Dharmage,
- Ana Esplugues,
- Mario Falchi,
- Dietmar Fernandez-Orth,
- Manuel A. R. Ferreira,
- Andre Franke,
- Sascha Gerdes,
- Christian Gieger,
- Hakon Hakonarson,
- Patrick G. Holt,
- Georg Homuth,
- Norbert Hubner,
- Pirro G. Hysi,
- Marjo-Riitta Jarvelin,
- Robert Karlsson,
- Gerard H. Koppelman,
- Susanne Lau,
- Manuel Lutz,
- Patrik K. E. Magnusson,
- Guy B. Marks,
- Martina Müller-Nurasyid,
- Markus M. Nöthen,
- Lavinia Paternoster,
- Craig E. Pennell,
- Annette Peters,
- Konrad Rawlik,
- Colin F. Robertson,
- Elke Rodriguez,
- Sylvain Sebert,
- Angela Simpson,
- Patrick M. A. Sleiman,
- Marie Standl,
- Dora Stölzl,
- Konstantin Strauch,
- Agnieszka Szwajda,
- Albert Tenesa,
- Philip J. Thompson,
- Vilhelmina Ullemar,
- Alessia Visconti,
- Judith M. Vonk,
- Carol A. Wang,
- Stephan Weidinger,
- Matthias Wielscher,
- Catherine L. Worth,
- Chen-Jian Xu,
- Young-Ae Lee
Affiliations
- Sarah Grosche
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Ingo Marenholz
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Jorge Esparza-Gordillo
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Aleix Arnau-Soler
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Erola Pairo-Castineira
- Roslin Institute, University of Edinburgh
- Franz Rüschendorf
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Tarunveer S. Ahluwalia
- COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen
- Catarina Almqvist
- Department of Medical Epidemiology and Biostatistics, Karolinska Institute
- Andreas Arnold
- Clinic and Polyclinic of Dermatology, University Medicine Greifswald
- Australian Asthma Genetics Consortium (AAGC)
- Hansjörg Baurecht
- Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein
- Hans Bisgaard
- COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen
- Klaus Bønnelykke
- COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen
- Sara J. Brown
- Institute of Genetics and Molecular Medicine, The University of Edinburgh
- Mariona Bustamante
- ISGlobal, Centre for Research in Environmental Epidemiology (CREAL)
- John A. Curtin
- Division of Infection Immunity and Respiratory Medicine, School of Biological Sciences, The University of Manchester, Manchester Academic Health Science Centre and Manchester University NHS Foundation Trust
- Adnan Custovic
- National Lung and Heart Institute, Imperial College London
- Shyamali C. Dharmage
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne
- Ana Esplugues
- Nursing School, University of Valencia, FISABIO-University Jaume I-University of Valencia Joint Research Unit of Epidemiology and Environmental Health, CIBERESP
- Mario Falchi
- Department of Twins Research and Genetic Epidemiology, King’s College London
- Dietmar Fernandez-Orth
- ISGlobal, Centre for Research in Environmental Epidemiology (CREAL)
- Manuel A. R. Ferreira
- Genetics and Computational Biology, QIMR Berghofer Medical Research Institute
- Andre Franke
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Sascha Gerdes
- Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein
- Christian Gieger
- Research Unit Molecular Epidemiology, Helmholtz Center Munich – German Research Center for Environmental Health
- Hakon Hakonarson
- Center for Applied Genomics, Children’s Hospital of Philadelphia, and Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania
- Patrick G. Holt
- Telethon Kids Institute, The University of Western Australia
- Georg Homuth
- Department of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald
- Norbert Hubner
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Pirro G. Hysi
- Department of Twins Research and Genetic Epidemiology, King’s College London
- Marjo-Riitta Jarvelin
- Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London
- Robert Karlsson
- Department of Medical Epidemiology and Biostatistics, Karolinska Institute
- Gerard H. Koppelman
- Department of Pediatric Pulmonology and Pediatric Allergology, University of Groningen, University Medical Center Groningen, GRIAC Research Institute
- Susanne Lau
- Department of Pediatric Pulmonology, Immunology and Intensive Care Medicine, Charité University Medical Center
- Manuel Lutz
- Institute of Genetic Epidemiology, Helmholtz Center Munich–German Research Center for Environmental Health
- Patrik K. E. Magnusson
- Department of Medical Epidemiology and Biostatistics, Karolinska Institute
- Guy B. Marks
- Woolcock Institute of Medical Research, University of Sydney
- Martina Müller-Nurasyid
- Institute of Genetic Epidemiology, Helmholtz Center Munich–German Research Center for Environmental Health
- Markus M. Nöthen
- Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn
- Lavinia Paternoster
- MRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol
- Craig E. Pennell
- School of Medicine and Public Health, Faculty of Medicine and Health, The University of Newcastle
- Annette Peters
- Institute of Epidemiology, Helmholtz Center Munich–German Research Center for Environmental Health
- Konrad Rawlik
- Roslin Institute, University of Edinburgh
- Colin F. Robertson
- Respiratory Research, Murdoch Children’s Research Institute
- Elke Rodriguez
- Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein
- Sylvain Sebert
- Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London
- Angela Simpson
- Division of Infection Immunity and Respiratory Medicine, School of Biological Sciences, The University of Manchester, Manchester Academic Health Science Centre and Manchester University NHS Foundation Trust
- Patrick M. A. Sleiman
- Center for Applied Genomics, Children’s Hospital of Philadelphia, and Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania
- Marie Standl
- Institute of Epidemiology, Helmholtz Center Munich–German Research Center for Environmental Health
- Dora Stölzl
- Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein
- Konstantin Strauch
- Institute of Genetic Epidemiology, Helmholtz Center Munich–German Research Center for Environmental Health
- Agnieszka Szwajda
- Department of Medical Epidemiology and Biostatistics, Karolinska Institute
- Albert Tenesa
- Roslin Institute, University of Edinburgh
- Philip J. Thompson
- Institute for Respiratory Health and Centre for Respiratory Health, School of Biomedical Sciences, University of Western Australia
- Vilhelmina Ullemar
- Department of Medical Epidemiology and Biostatistics, Karolinska Institute
- Alessia Visconti
- Department of Twins Research and Genetic Epidemiology, King’s College London
- Judith M. Vonk
- Department of Epidemiology, University of Groningen, University Medical Center Groningen, GRIAC Research Institute
- Carol A. Wang
- School of Medicine and Public Health, Faculty of Medicine and Health, The University of Newcastle
- Stephan Weidinger
- Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein
- Matthias Wielscher
- Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London
- Catherine L. Worth
- Max-Delbrück-Center (MDC) for Molecular Medicine
- Chen-Jian Xu
- Department of Pediatric Pulmonology and Pediatric Allergology, University of Groningen, University Medical Center Groningen, GRIAC Research Institute
- Young-Ae Lee
- Max-Delbrück-Center (MDC) for Molecular Medicine
- DOI
- https://doi.org/10.1038/s41467-021-26783-x
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 11
Abstract
Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is attributable to rare variants.
