SynthesisNature communications2021
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
4.8field-weighted citation impact, top 4% of its field
What it found
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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.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.Nature communications · 2023Pooled it
- Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.Annals of the rheumatic diseases · 2026Article
- Mendelian randomization studies in atopic dermatitis: causal insights across omics layers.Frontiers in immunology · 2026Review
- Massively parallel analysis of genotype-dependent enhancer activity among atopic dermatitis genetic risk variants.The Journal of allergy and clinical immunology · 2025Article
- DNA methylation of food sensitization in a French-Canadian population.Clinical epigenetics · 2025Article
- A multi-omics resource of B cell activation reveals genetic mechanisms for immune-mediated diseases.medRxiv : the preprint server for health sciences · 2025Article
- RAG suppresses group 2 innate lymphoid cells.eLife · 2025Article
- Transcriptome-wide analyses delineate the genetic architecture of expression variation in atopic dermatitis.HGG advances · 2025Article
- Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Hypothesis: platelet-rich plasma as an adjunct therapy for eczema targeting inflammation, skin barrier repair, and chronic recurrence.Frontiers in immunology · 2025Article
- Functional omics of ORP7 in primary endothelial cells.BMC biology · 2024Article
- Construction of a tumor mutational burden-derived LncRNA prognostic computational framework associated with therapy sensitivity in skin cutaneous melanoma.Journal of translational medicine · 2024Article
- Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population.HGG advances · 2024Article
- Immunosuppression causes dynamic changes in expression QTLs in psoriatic skin.Nature communications · 2023Article
- Comprehensive analyses of fatty acid metabolism-related lncRNA for ovarian cancer patients.Scientific reports · 2023Article
- Germline mechanisms of immunotherapy toxicities in the era of genome-wide association studies.Immunological reviews · 2023Review
- Intrinsic Effects of Exposome in Atopic Dermatitis: Genomics, Epigenomics and Regulatory Layers.Journal of clinical medicine · 2023Review
- New insights from genetic studies of eczema.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- DNA methylation and aeroallergen sensitization: The chicken or the egg?Clinical epigenetics · 2022Article
Corrections and comments
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Authors and funding
63 authors at 20 institutions in 10 countries.
Sarah Grosche *Max-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.
Ingo Marenholz *Max-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.
Jorge Esparza-Gordillo *Max-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.
Aleix Arnau-Soler *Max-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.
Erola Pairo-CastineiraRoslin Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-2423-3090
Franz RüschendorfMax-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.ORCID http://orcid.org/0000-0001-5640-810X
Tarunveer S AhluwaliaCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-7464-3354
Catarina AlmqvistDepartment of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
Andreas ArnoldClinic and Polyclinic of Dermatology, University Medicine Greifswald, Greifswald, Germany.
Australian Asthma Genetics Consortium (AAGC)
Hansjörg BaurechtDepartment of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany.ORCID http://orcid.org/0000-0002-9265-5594
Hans BisgaardCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-4131-7592
Klaus BønnelykkeCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2003-1018
Sara J BrownInstitute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-3232-5251
Mariona BustamanteISGlobal, Centre for Research in Environmental Epidemiology (CREAL), Barcelona, Spain.ORCID http://orcid.org/0000-0003-0127-2860
John A CurtinDivision 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, Manchester, UK.
Adnan CustovicNational Lung and Heart Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0001-5218-7071
Shyamali C DharmageCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Ana EspluguesNursing School, University of Valencia, FISABIO-University Jaume I-University of Valencia Joint Research Unit of Epidemiology and Environmental Health, CIBERESP, Valencia, Spain.
Mario FalchiDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-5646-1004
Dietmar Fernandez-OrthISGlobal, Centre for Research in Environmental Epidemiology (CREAL), Barcelona, Spain.ORCID http://orcid.org/0000-0002-1237-3192
Manuel A R FerreiraGenetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.ORCID http://orcid.org/0000-0003-1530-5811
Sascha GerdesDepartment of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany.
Christian GiegerResearch Unit Molecular Epidemiology, Helmholtz Center Munich - German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0001-6986-9554
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, and Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-2814-7461
Patrick G HoltTelethon Kids Institute, The University of Western Australia, Perth, Australia.ORCID http://orcid.org/0000-0003-1193-0935
Georg HomuthDepartment of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Norbert HubnerMax-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.ORCID http://orcid.org/0000-0002-1218-6223
Pirro G HysiDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0001-5752-2510
Marjo-Riitta JarvelinDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-2149-0630
Robert KarlssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-8949-2587
Gerard H KoppelmanDepartment of Pediatric Pulmonology and Pediatric Allergology, University of Groningen, University Medical Center Groningen, GRIAC Research Institute, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-8567-3252
Susanne LauDepartment of Pediatric Pulmonology, Immunology and Intensive Care Medicine, Charité University Medical Center, Berlin, Germany.
Manuel LutzInstitute of Genetic Epidemiology, Helmholtz Center Munich-German Research Center for Environmental Health, Neuherberg, Germany.
Patrik K E MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-7315-7899
Guy B MarksWoolcock Institute of Medical Research, University of Sydney, Sydney, Australia.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Center Munich-German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-3793-5910
Markus M NöthenInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-8770-2464
Lavinia PaternosterMRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0003-2514-0889
Craig E PennellSchool of Medicine and Public Health, Faculty of Medicine and Health, The University of Newcastle, Newcastle, Australia.ORCID http://orcid.org/0000-0002-0937-6165
Annette PetersInstitute of Epidemiology, Helmholtz Center Munich-German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0001-6645-0985
Konrad RawlikRoslin Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0010-370X
Colin F RobertsonRespiratory Research, Murdoch Children's Research Institute, Melbourne, Australia.
Elke RodriguezDepartment of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany.ORCID http://orcid.org/0000-0003-3692-3950
Sylvain SebertDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London, London, UK.ORCID http://orcid.org/0000-0001-6681-6983
Angela SimpsonDivision 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, Manchester, UK.
Patrick M A SleimanCenter for Applied Genomics, Children's Hospital of Philadelphia, and Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Marie StandlInstitute of Epidemiology, Helmholtz Center Munich-German Research Center for Environmental Health, Neuherberg, Germany.
Dora StölzlDepartment of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Center Munich-German Research Center for Environmental Health, Neuherberg, Germany.
Agnieszka SzwajdaDepartment of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
Albert TenesaRoslin Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-4884-4475
Philip J ThompsonInstitute for Respiratory Health and Centre for Respiratory Health, School of Biomedical Sciences, University of Western Australia, Nedlands, Australia.
Vilhelmina UllemarDepartment of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
Alessia ViscontiDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0003-4144-2019
Judith M VonkDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, GRIAC Research Institute, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-7531-4547
Carol A WangSchool of Medicine and Public Health, Faculty of Medicine and Health, The University of Newcastle, Newcastle, Australia.ORCID http://orcid.org/0000-0002-4301-3974
Stephan WeidingerDepartment of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany.
Matthias WielscherDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London, London, UK.
Catherine L WorthMax-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany.ORCID http://orcid.org/0000-0002-1796-9606
Chen-Jian XuDepartment of Pediatric Pulmonology and Pediatric Allergology, University of Groningen, University Medical Center Groningen, GRIAC Research Institute, Groningen, the Netherlands.
Young-Ae LeeMax-Delbrück-Center (MDC) for Molecular Medicine, Berlin, Germany. yolee@mdc-berlin.de.ORCID http://orcid.org/0000-0002-1817-9163
Max Delbrück Center · DEUniversity Hospital Schleswig-Holstein · DEHelmholtz Zentrum München · DEImperial College London · GBKarolinska Institutet · SEKing's College London · GBRoslin Institute · GBUniversity Medical Center Groningen · NLUniversity of Copenhagen · DKCenter for Research in Environmental Epidemiology · ESChildren's Hospital of Philadelphia · USJohannes Gutenberg University Mainz · DEManchester Academic Health Science Centre · GBUniversitätsmedizin Greifswald · DEUniversity of Newcastle Australia · AUAustrian Academy of Sciences · ATCharité - Universitätsmedizin Berlin · DEChristian-Albrechts-Universität zu Kiel · DEGlaxoSmithKline (United Kingdom) · GBInstitute of Genetics and Cancer · GB
Funding
Medical Research Council G0601361Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Medical Research Council MR/K002449/2Medical Research Council MR/S025340/1
Abstract
Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify rare exonic variants in DUSP1, NOTCH4, and SLC9A4 to be associated with eczema. In DUSP1 and NOTCH4 missense variants are predicted to impact conserved functional domains. In addition, five novel common variants at SATB1-AS1/KCNH8, TRIB1/LINC00861, ZBTB1, TBX21/OSBPL7, and CSF2RB are discovered. While genes prioritized based on rare variants are significantly up-regulated in the skin, common variants point to immune cell function. Over 20% of the single nucleotide variant-based heritability is attributable to rare and low-frequency variants. The identified rare/low-frequency variants located in functional protein domains point to promising targets for novel therapeutic approaches to eczema.
Indexed as
Cytokine Receptor Common beta SubunitDual Specificity Phosphatase 1EczemaGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMatrix Attachment Region Binding ProteinsPolymorphism, Single NucleotideRare DiseasesReceptor, Notch4Sodium-Hydrogen ExchangersCSF2RB protein, humanCytokine Receptor Common beta SubunitDual Specificity Phosphatase 1DUSP1 protein, humanMatrix Attachment Region Binding ProteinsNOTCH4 protein, humanReceptor, Notch4SATB1 protein, humanSLC9A4 protein, humanSodium-Hydrogen Exchangers
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