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WFRF:(Chandran M.)
 

Sökning: WFRF:(Chandran M.) > Exome-wide associat...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00008983naa a2200961 4500
001oai:DiVA.org:liu-142974
003SwePub
008171113s2017 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1429742 URI
0247 a https://doi.org/10.1093/hmg/ddx3282 DOI
040 a (SwePub)liu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Dand, Nicku Kings Coll London, England4 aut
2451 0a Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling
264 c 2017-08-24
264 1b OXFORD UNIV PRESS,c 2017
338 a electronic2 rdacarrier
500 a Funding Agencies|Medical Research Council (MRC) Stratified Medicine award [MR/L011808/1]; Psoriasis Association [RG2/10]; MRC Clinical Training Fellowship [MR/L001543/1]; NIHR Biomedical Research Centre based at Guys and St Thomas NHS Foundation Trust; Kings College London; NIHR Biomedical Research Centre at South London; Maudsley NHS Foundation Trust; Maudsley Charity [980]; Guys and St Thomass Charity [STR130505]; MRC grant [G0000934]; Wellcome Trust grant [068545/Z/02]; German Federal Ministry of Education and Research (BMBF) [01ZX1306A]; PopGen Biobank (Kiel, Germany) [01EY1103]; Helmholtz Zentrum Munchen - German Research Center for Environmental Health; BMBF; State of Bavaria; Munich Center of Health Sciences (MC Health); Ludwig-Maximilians-Universitat, of LMUinnovativ; BMBF [01ZZ9603, 01ZZ0103, 01ZZ0403, 03152061A, 03Z1CN22]; Ministry of Cultural Affairs; Social Ministry of the Federal State of Mecklenburg -West Pomerania; network Greifswald Approach to Individualized Medicine (GANI MED); Federal State of Mecklenburg West Pomerania; BMBF Metarthros grant [01EC1407A]; National Institutes of Health [R01AR042742, R01AR050511, R01AR054966, R01AR063611, R01AR065183]; GAIN award from the Foundation for the National Institutes of Health; Ann Arbor Veterans Affairs Hospital; Taubman Medical Research Institute; International Psoriasis Council
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Mucha, Soerenu Christian Albrechts University of Kiel, Germany4 aut
7001 a Tsoi, Lam C.u University of Michigan, MI 48109 USA4 aut
7001 a Mahil, Satveer K.u Kings Coll London, England4 aut
7001 a Stuart, Philip E.u University of Michigan, MI USA4 aut
7001 a Arnold, Andreasu University of Medical Greifswald, Germany4 aut
7001 a Baurecht, Hansjoergu University Hospital Schleswigholstein, Germany4 aut
7001 a David Burden, A.u University of Glasgow, Scotland4 aut
7001 a Callis Duffin, Kristinau University of Utah, UT USA4 aut
7001 a Chandran, Vinodu University of Toronto, Canada; University of Health Network, Canada4 aut
7001 a Curtis, Charles J.u NIHR, England; Maudsley NHS Fdn Trust, England; Kings Coll London, England; Kings Coll London, England4 aut
7001 a Das, Sayantanu University of Michigan, MI 48109 USA4 aut
7001 a Ellinghaus, Davidu Christian Albrechts University of Kiel, Germany4 aut
7001 a Ellinghaus, Evau Christian Albrechts University of Kiel, Germany4 aut
7001 a Enerbäck, Charlottau Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Hudkliniken i Östergötland4 aut0 (Swepub:liu)chaen00
7001 a Esko, Tonuu University of Tartu, Estonia4 aut
7001 a Gladman, Dafna D.u University of Toronto, Canada; University of Health Network, Canada4 aut
7001 a Griffiths, Christopher E. M.u University of Manchester, England4 aut
7001 a Gudjonsson, Johann E.u University of Michigan, MI USA4 aut
7001 a Hoffman, Peru University of Basel, Switzerland; University of Bonn, Germany4 aut
7001 a Homuth, Georgu University of Med, Germany; Ernst Moritz Arndt University of Greifswald, Germany4 aut
7001 a Hueffmeier, Ulrikeu University Hospital Schleswigholstein, Germany; Friedrich Alexander University of Erlangen Nurnberg, Germany4 aut
7001 a Krueger, Gerald G.u University of Utah, UT USA4 aut
7001 a Laudes, Matthiasu Christian Albrechts University of Kiel, Germany4 aut
7001 a Hyuck Lee, Sangu NIHR, England; Maudsley NHS Fdn Trust, England; Kings Coll London, England; Kings Coll London, England4 aut
7001 a Lieb, Wolfgangu Christian Albrechts University of Kiel, Germany4 aut
7001 a Lim, Henry W.u Henry Ford Hospital, MI 48202 USA4 aut
7001 a Loehr, Sabineu Friedrich Alexander University of Erlangen Nurnberg, Germany4 aut
7001 a Mrowietz, Ulrichu Department of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany4 aut
7001 a Mueller-Nurayid, Martinau Helmholtz Zentrum Munich, Germany4 aut
7001 a Noethen, Markusu University of Bonn, Germany4 aut
7001 a Peters, Annetteu Helmholtz Zentrum Munich, Germany4 aut
7001 a Rahman, Protonu Mem University of Newfoundland, Canada4 aut
7001 a Reis, Andreu Friedrich Alexander University of Erlangen Nurnberg, Germany4 aut
7001 a Reynolds, Nick J.u Newcastle University, England; Newcastle Hospital NHS Fdn Trust, England4 aut
7001 a Rodriguez, Elkeu University Hospital Schleswigholstein, Germany4 aut
7001 a Schmidt, Carsten O.u University of Medical Greifswald, Germany4 aut
7001 a Spain, Sarah L.u Kings Coll London, England4 aut
7001 a Strauch, Konstantinu Helmholtz Zentrum Munich, Germany4 aut
7001 a Tejasvi, Trilokraju University of Michigan, MI USA4 aut
7001 a Voorhees, John J.u University of Michigan, MI USA4 aut
7001 a Warren, Richard B.u University of Manchester, England4 aut
7001 a Weichenthal, Michaelu University of Medical Centre Schleswig Holstein, Germany4 aut
7001 a Weidinger, Stephanu University Hospital Schleswigholstein, Germany4 aut
7001 a Zawistowski, Matthewu University of Michigan, MI 48109 USA4 aut
7001 a Nair, Rajan P.u University of Michigan, MI USA4 aut
7001 a Capon, Francescau Kings Coll London, England4 aut
7001 a Smith, Catherine H.u Kings Coll London, England4 aut
7001 a Trembath, Richard C.u Kings Coll London, England4 aut
7001 a Abecasis, Goncalo R.u University of Michigan, MI 48109 USA4 aut
7001 a Elder, James T.u University of Michigan, MI USA; Ann Arbor Vet Hospital, MI USA4 aut
7001 a Franke, Andreu Christian Albrechts University of Kiel, Germany4 aut
7001 a Simpson, Michael A.u Kings Coll London, England4 aut
7001 a Barker, Jonathan N.u Kings Coll London, England4 aut
7102 a Kings Coll London, Englandb Christian Albrechts University of Kiel, Germany4 org
7730 t Human Molecular Geneticsd : OXFORD UNIV PRESSg 26:21, s. 4301-4313q 26:21<4301-4313x 0964-6906x 1460-2083
8564 u https://liu.diva-portal.org/smash/get/diva2:1156562/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://academic.oup.com/hmg/article-pdf/26/21/4301/24339621/ddx328.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-142974
8564 8u https://doi.org/10.1093/hmg/ddx328

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