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Exome-wide associat...
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling
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- Dand, Nick (author)
- Kings Coll London, England
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- Mucha, Soeren (author)
- Christian Albrechts University of Kiel, Germany
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- Tsoi, Lam C. (author)
- University of Michigan, MI 48109 USA
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- Mahil, Satveer K. (author)
- Kings Coll London, England
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- Stuart, Philip E. (author)
- University of Michigan, MI USA
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- Arnold, Andreas (author)
- University of Medical Greifswald, Germany
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- Baurecht, Hansjoerg (author)
- University Hospital Schleswigholstein, Germany
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- David Burden, A. (author)
- University of Glasgow, Scotland
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- Callis Duffin, Kristina (author)
- University of Utah, UT USA
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- Chandran, Vinod (author)
- University of Toronto, Canada; University of Health Network, Canada
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- Curtis, Charles J. (author)
- NIHR, England; Maudsley NHS Fdn Trust, England; Kings Coll London, England; Kings Coll London, England
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- Das, Sayantan (author)
- University of Michigan, MI 48109 USA
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- Ellinghaus, David (author)
- Christian Albrechts University of Kiel, Germany
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- Ellinghaus, Eva (author)
- Christian Albrechts University of Kiel, Germany
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- Enerbäck, Charlotta (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Hudkliniken i Östergötland
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- Esko, Tonu (author)
- University of Tartu, Estonia
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- Gladman, Dafna D. (author)
- University of Toronto, Canada; University of Health Network, Canada
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- Griffiths, Christopher E. M. (author)
- University of Manchester, England
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- Gudjonsson, Johann E. (author)
- University of Michigan, MI USA
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- Hoffman, Per (author)
- University of Basel, Switzerland; University of Bonn, Germany
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- Homuth, Georg (author)
- University of Med, Germany; Ernst Moritz Arndt University of Greifswald, Germany
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- Hueffmeier, Ulrike (author)
- University Hospital Schleswigholstein, Germany; Friedrich Alexander University of Erlangen Nurnberg, Germany
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- Krueger, Gerald G. (author)
- University of Utah, UT USA
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- Laudes, Matthias (author)
- Christian Albrechts University of Kiel, Germany
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- Hyuck Lee, Sang (author)
- NIHR, England; Maudsley NHS Fdn Trust, England; Kings Coll London, England; Kings Coll London, England
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- Lieb, Wolfgang (author)
- Christian Albrechts University of Kiel, Germany
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- Lim, Henry W. (author)
- Henry Ford Hospital, MI 48202 USA
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- Loehr, Sabine (author)
- Friedrich Alexander University of Erlangen Nurnberg, Germany
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- Mrowietz, Ulrich (author)
- Department of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
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- Mueller-Nurayid, Martina (author)
- Helmholtz Zentrum Munich, Germany
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- Noethen, Markus (author)
- University of Bonn, Germany
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- Peters, Annette (author)
- Helmholtz Zentrum Munich, Germany
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- Rahman, Proton (author)
- Mem University of Newfoundland, Canada
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- Reis, Andre (author)
- Friedrich Alexander University of Erlangen Nurnberg, Germany
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- Reynolds, Nick J. (author)
- Newcastle University, England; Newcastle Hospital NHS Fdn Trust, England
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- Rodriguez, Elke (author)
- University Hospital Schleswigholstein, Germany
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- Schmidt, Carsten O. (author)
- University of Medical Greifswald, Germany
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- Spain, Sarah L. (author)
- Kings Coll London, England
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- Strauch, Konstantin (author)
- Helmholtz Zentrum Munich, Germany
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- Tejasvi, Trilokraj (author)
- University of Michigan, MI USA
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- Voorhees, John J. (author)
- University of Michigan, MI USA
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- Warren, Richard B. (author)
- University of Manchester, England
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- Weichenthal, Michael (author)
- University of Medical Centre Schleswig Holstein, Germany
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- Weidinger, Stephan (author)
- University Hospital Schleswigholstein, Germany
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- Zawistowski, Matthew (author)
- University of Michigan, MI 48109 USA
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- Nair, Rajan P. (author)
- University of Michigan, MI USA
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- Capon, Francesca (author)
- Kings Coll London, England
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- Smith, Catherine H. (author)
- Kings Coll London, England
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- Trembath, Richard C. (author)
- Kings Coll London, England
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- Abecasis, Goncalo R. (author)
- University of Michigan, MI 48109 USA
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- Elder, James T. (author)
- University of Michigan, MI USA; Ann Arbor Vet Hospital, MI USA
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- Franke, Andre (author)
- Christian Albrechts University of Kiel, Germany
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- Simpson, Michael A. (author)
- Kings Coll London, England
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- Barker, Jonathan N. (author)
- Kings Coll London, England
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(creator_code:org_t)
- 2017-08-24
- 2017
- English.
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In: Human Molecular Genetics. - : OXFORD UNIV PRESS. - 0964-6906 .- 1460-2083. ; 26:21, s. 4301-4313
- Related links:
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https://liu.diva-por... (primary) (Raw object)
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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 x 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 amp;lt; 0.01) via gene-wide aggregation testing (IFIH1: p(burden) = 2.53 x 10(-7), OR = 0.707; TYK2: p(burden) = 6.17 x 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Dand, Nick
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Mucha, Soeren
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Tsoi, Lam C.
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Mahil, Satveer K ...
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Stuart, Philip E ...
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Arnold, Andreas
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show more...
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Baurecht, Hansjo ...
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David Burden, A.
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Callis Duffin, K ...
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Chandran, Vinod
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Curtis, Charles ...
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Das, Sayantan
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Ellinghaus, Davi ...
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Ellinghaus, Eva
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Enerbäck, Charlo ...
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Esko, Tonu
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Gladman, Dafna D ...
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Griffiths, Chris ...
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Gudjonsson, Joha ...
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Hoffman, Per
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Homuth, Georg
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Hueffmeier, Ulri ...
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Krueger, Gerald ...
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Laudes, Matthias
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Hyuck Lee, Sang
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Lieb, Wolfgang
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Lim, Henry W.
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Loehr, Sabine
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Mrowietz, Ulrich
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Mueller-Nurayid, ...
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Noethen, Markus
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Peters, Annette
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Rahman, Proton
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Reis, Andre
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Reynolds, Nick J ...
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Rodriguez, Elke
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Schmidt, Carsten ...
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Spain, Sarah L.
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Strauch, Konstan ...
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Tejasvi, Trilokr ...
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Voorhees, John J ...
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Warren, Richard ...
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Weichenthal, Mic ...
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Weidinger, Steph ...
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Zawistowski, Mat ...
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Nair, Rajan P.
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Capon, Francesca
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Smith, Catherine ...
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Trembath, Richar ...
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Abecasis, Goncal ...
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Elder, James T.
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Franke, Andre
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Simpson, Michael ...
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Barker, Jonathan ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Molecular ...
- By the university
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Linköping University