SynthesisHuman molecular genetics2017
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 2 pooled it
2.2field-weighted citation impact, top 10% of its field
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
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.Nature communications · 2025Pooled it
- Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis.BMC gastroenterology · 2019Pooled it
- Article
- Immunogenetics in psoriasis: towards personalised diagnosis and treatment strategies.Genes and immunity · 2026Review
- Naturally derived bioactive compounds as precision modulators of immune and inflammatory mechanisms in psoriatic conditions.Inflammopharmacology · 2025Review
- Multifaceted roles of RNA editing enzyme ADAR1 in innate immunity.RNA (New York, N.Y.) · 2024Article
- The Role of Epigenetic Factors in the Pathogenesis of Psoriasis.International journal of molecular sciences · 2024Review
- Multi-Omics Approach to Improved Diagnosis and Treatment of Atopic Dermatitis and Psoriasis.International journal of molecular sciences · 2024Review
- Roles of tumor necrosis factor-like ligand 1A in γδT-cell activation and psoriasis pathogenesis.Frontiers in immunology · 2024Article
- GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.medRxiv : the preprint server for health sciences · 2023Article
- Disentangling the complexity of psoriasis in the post-genome-wide association era.Genes and immunity · 2023Review
- The Genetic Susceptibility to Psoriasis and the Relationship of Linked Genes to Our Treatment Options.International journal of molecular sciences · 2023Review
- Allelic Variants of HLA-C Upstream Region,Vaccines · 2022Article
- Identification of New Rare Variants Associated With Familial Autoimmune Thyroid Diseases by Deep Sequencing of Linked Loci.The Journal of clinical endocrinology and metabolism · 2021Article
- New Frontiers in Psoriatic Disease Research, Part I: Genetics, Environmental Triggers, Immunology, Pathophysiology, and Precision Medicine.The Journal of investigative dermatology · 2021Review
- Insights into the pathogenesis of psoriatic arthritis from genetic studies.Seminars in immunopathology · 2021Review
- Editorial: Skin Autoimmunity.Frontiers in immunology · 2021Article
- TNFSF15 Promotes Antimicrobial Pathways in Human Macrophages and These Are Modulated by TNFSF15 Disease-Risk Variants.Cellular and molecular gastroenterology and hepatology · 2021Article
- The influence of interferon on healthy and diseased skin.Cytokine · 2020Review
- Psoriasis and Genetics.Acta dermato-venereologica · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
54 authors at 19 institutions in 7 countries.
Nick DandDivision of Genetics and Molecular Medicine, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Sören MuchaInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Lam C TsoiDepartment of Dermatology.
Satveer K MahilSt John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Philip E StuartDepartment of Dermatology.
Andreas ArnoldClinic and Polyclinic of Dermatology, University Medicine Greifswald, Greifswald, Germany.
Hansjörg BaurechtDepartment of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
A David BurdenInstitute of Infection, Inflammation and Immunity, University of Glasgow, Glasgow, UK.
Kristina Callis DuffinDepartment of Dermatology, University of Utah, Salt Lake City, UT, USA.
Vinod ChandranDepartment of Medicine.
Charles J CurtisNIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK.
Sayantan DasDepartment of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
David EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Eva EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Charlotta EnerbackDivision of Cell Biology and Dermatology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Tõnu EskoEstonian Biobank, Estonian Genome Center, University of Tartu, Tartu, Estonia.
Dafna D GladmanDepartment of Medicine.
Christopher E M GriffithsDermatology Centre, Salford Royal Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
Johann E GudjonssonDepartment of Dermatology.
Per HoffmanGenomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland.
Georg HomuthDepartment of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine and Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany.
Ulrike HüffmeierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Gerald G KruegerDepartment of Dermatology, University of Utah, Salt Lake City, UT, USA.
Matthias LaudesI. Department of Medicine.
Sang Hyuck LeeNIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK.
Wolfgang LiebInstitute of Epidemiology and Biobank PopGen, Christian-Albrechts-University of Kiel, Kiel, Germany.
Henry W LimDepartment of Dermatology, Henry Ford Hospital, Detroit, MI, USA.
Sabine LöhrInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Ulrich MrowietzDepartment of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Martina Müller-NurayidInstitute of Genetic Epidemiology, Helmholtz Zentrum Munich, Neuherberg, Germany.
Markus NöthenInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Annette PetersInstitute of Genetic Epidemiology, Helmholtz Zentrum Munich, Neuherberg, Germany.
Proton RahmanMemorial University of Newfoundland, St. John's, NL, Canada.
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Nick J ReynoldsDermatological Sciences, Institute of Cellular Medicine, Newcastle University Medical School, Newcastle upon Tyne, UK.
Elke RodriguezDepartment of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Carsten O SchmidtInstitute for Community Medicine, Study of Health in Pomerania/KEF, University Medicine Greifswald, Greifswald, Germany.
Sarah L SpainDivision of Genetics and Molecular Medicine, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum Munich, Neuherberg, Germany.
Trilokraj TejasviDepartment of Dermatology.
John J VoorheesDepartment of Dermatology.
Richard B WarrenDermatology Centre, Salford Road NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
Michael WeichenthalDepartment of Dermatology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Stephan WeidingerDepartment of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Matthew ZawistowskiDepartment of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Rajan P NairDepartment of Dermatology.
Francesca CaponDivision of Genetics and Molecular Medicine, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Catherine H SmithSt John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Richard C TrembathDivision of Genetics and Molecular Medicine, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Goncalo R AbecasisDepartment of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
James T ElderDepartment of Dermatology.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Michael A SimpsonDivision of Genetics and Molecular Medicine, Faculty of Life Sciences & Medicine, King's College London, London, UK.
Jonathan N BarkerSt John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK.
King's College London · GBChristian-Albrechts-Universität zu Kiel · DEUniversity Hospital Schleswig-Holstein · DEUniversity of Michigan · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHelmholtz Zentrum München · DEManchester Academic Health Science Centre · GBUniversitätsmedizin Greifswald · DEUniversity Health Network · CAUniversity of Bonn · DEUniversity of Utah · USEstonian Biocentre · EEHenry Ford Hospital · USLinköping University · SEMemorial University of Newfoundland · CARoyal Victoria Infirmary · GBUniversität Greifswald · DEUniversity of Glasgow · GBVA Ann Arbor Healthcare System · US
Funding
ZINC GLUCONATE GLYCINE LOZENGES &VITAMIN C EFFECTS ON COMMON COLDM01RR000042 · NCRR · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELSTROM, REBECCA L · 1985 to 2007
$40.8MLinkage analysis of familial psoriasis(Supplement)R01AR042742 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 1994 to 2021
$10.1MGenetic and Genomic Dissection of Psoriatic ArthritisR01AR063611 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD, GLADMAN, DAFNA D · 2012 to 2023
$6.2MIdentification of Psoriatic Arthritis Genes in the MHCR01AR050511 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2004 to 2013
$4.2MCombined Analysis of Gene Expression and DNA Variation in PsoriasisR01AR054966 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2007 to 2011
$3.2MFunctional Genomics of PsoriasisR01AR065183 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2013 to 2016
$1.7MDesign Approaches for Sequencing Disease-Associated Regions in PsoriasisU01HG005924 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2010 to 2010
$221kMedical Research Council MR/L001543/1Medical Research Council MR/L011808/1NCRR NIH HHS M01 RR000042NHGRI NIH HHS U01 HG005924NIAMS NIH HHS R01 AR042742NIAMS NIH HHS R01 AR050511NIAMS NIH HHS R01 AR054966NIAMS NIH HHS R01 AR063611NIAMS NIH HHS R01 AR065183Wellcome Trust
Abstract
Psoriasis is a common inflammatory skin disorder for which multiple genetic susceptibility loci have been identified, but few resolved to specific functional variants. In this study, we sought to identify common and rare psoriasis-associated gene-centric variation. Using exome arrays we genotyped four independent cohorts, totalling 11 861 psoriasis cases and 28 610 controls, aggregating the dataset through statistical meta-analysis. Single variant analysis detected a previously unreported risk locus at TNFSF15 (rs6478108; P = 1.50 × 10-8, OR = 1.10), and association of common protein-altering variants at 11 loci previously implicated in psoriasis susceptibility. We validate previous reports of protective low-frequency protein-altering variants within IFIH1 (encoding an innate antiviral receptor) and TYK2 (encoding a Janus kinase), in each case establishing a further series of protective rare variants (minor allele frequency < 0.01) via gene-wide aggregation testing (IFIH1: pburden = 2.53 × 10-7, OR = 0.707; TYK2: pburden = 6.17 × 10-4, OR = 0.744). Both genes play significant roles in type I interferon (IFN) production and signalling. Several of the protective rare and low-frequency variants in IFIH1 and TYK2 disrupt conserved protein domains, highlighting potential mechanisms through which their effect may be exerted.
Indexed as
AllelesCase-Control StudiesCohort StudiesExomeExome SequencingFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansInterferon-Induced Helicase, IFIH1MalePolymorphism, Single NucleotidePsoriasisIFIH1 protein, humanInterferon-Induced Helicase, IFIH1TNFSF15 protein, humanTumor Necrosis Factor Ligand Superfamily Member 15TYK2 KinaseTYK2 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.