Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip array, in a total of 10,588 cases and 22,806 controls. They identify 15 new susceptibility loci and refine signals in previously known loci,...
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Veröffentlicht in: | Nature genetics 2012-12, Vol.44 (12), p.1341-1348 |
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creator | Tsoi, Lam C Spain, Sarah L Knight, Jo Ellinghaus, Eva Stuart, Philip E Capon, Francesca Ding, Jun Li, Yanming Tejasvi, Trilokraj Gudjonsson, Johann E Kang, Hyun M Allen, Michael H McManus, Ross Novelli, Giuseppe Samuelsson, Lena Schalkwijk, Joost Ståhle, Mona Burden, A David Smith, Catherine H Cork, Michael J Estivill, Xavier Bowcock, Anne M Krueger, Gerald G Weger, Wolfgang Worthington, Jane Tazi-Ahnini, Rachid Nestle, Frank O Hayday, Adrian Hoffmann, Per Winkelmann, Juliane Wijmenga, Cisca Langford, Cordelia Edkins, Sarah Andrews, Robert Blackburn, Hannah Strange, Amy Band, Gavin Pearson, Richard D Vukcevic, Damjan Spencer, Chris C A Deloukas, Panos Mrowietz, Ulrich Schreiber, Stefan Weidinger, Stephan Koks, Sulev Kingo, Külli Esko, Tonu Metspalu, Andres Lim, Henry W Voorhees, John J Weichenthal, Michael Wichmann, H Erich Chandran, Vinod Rosen, Cheryl F Rahman, Proton Gladman, Dafna D Griffiths, Christopher E M Reis, Andre Kere, Juha Nair, Rajan P Franke, Andre Barker, Jonathan N W N Abecasis, Goncalo R Elder, James T Trembath, Richard C |
description | Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip array, in a total of 10,588 cases and 22,806 controls. They identify 15 new susceptibility loci and refine signals in previously known loci, highlighting a role for innate host defense in susceptibility to psoriasis.
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as
RUNX3
,
TAGAP
and
STAT3
). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (
DDX58
), macrophage activation (
ZC3H12C
) and nuclear factor (NF)-κB signaling (
CARD14
and
CARM1
). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense. |
doi_str_mv | 10.1038/ng.2467 |
format | Article |
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To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as
RUNX3
,
TAGAP
and
STAT3
). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (
DDX58
), macrophage activation (
ZC3H12C
) and nuclear factor (NF)-κB signaling (
CARD14
and
CARM1
). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense.</description><identifier>ISSN: 1061-4036</identifier><identifier>ISSN: 1546-1718</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng.2467</identifier><identifier>PMID: 23143594</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/208/205/2138 ; 631/250/249/1313/1758 ; Agriculture ; Animal Genetics and Genomics ; Autoimmune diseases ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; CARD Signaling Adaptor Proteins - genetics ; CARD Signaling Adaptor Proteins - immunology ; Chromosomes ; Core Binding Factor Alpha 3 Subunit - genetics ; Core Binding Factor Alpha 3 Subunit - immunology ; DEAD Box Protein 58 ; DEAD-box RNA Helicases - genetics ; DEAD-box RNA Helicases - immunology ; Dermatologi och venereologi ; Dermatology ; Dermatology and Venereal Diseases ; Disease susceptibility ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene Function ; genetic analysis ; Genetic aspects ; Genetic Loci ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; Genome-Wide Association Study ; GTPase-Activating Proteins - genetics ; GTPase-Activating Proteins - immunology ; Guanylate Cyclase - genetics ; Guanylate Cyclase - immunology ; Human Genetics ; Humans ; Immunity, Innate - genetics ; innate immunity ; letter ; Medical sciences ; Membrane Proteins - genetics ; Membrane Proteins - immunology ; Oligonucleotide Array Sequence Analysis ; Physiological aspects ; Polymorphism, Single Nucleotide ; Psoriasis ; Psoriasis - genetics ; Psoriasis - immunology ; Psoriasis. Parapsoriasis. Lichen ; Receptors, Immunologic ; Risk factors ; Skin - immunology ; STAT3 Transcription Factor - genetics ; STAT3 Transcription Factor - immunology ; T-Lymphocytes - immunology ; White People - genetics</subject><ispartof>Nature genetics, 2012-12, Vol.44 (12), p.1341-1348</ispartof><rights>Springer Nature America, Inc. 2012</rights><rights>2014 INIST-CNRS</rights><rights>COPYRIGHT 2012 Nature Publishing Group</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c725t-b4fe25515db544dc76704f074b361a1126a6fd513a1dff1386491541b7e020d53</citedby><cites>FETCH-LOGICAL-c725t-b4fe25515db544dc76704f074b361a1126a6fd513a1dff1386491541b7e020d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng.2467$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng.2467$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,551,777,781,882,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26701581$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23143594$$D View this 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Giuseppe</creatorcontrib><creatorcontrib>Samuelsson, Lena</creatorcontrib><creatorcontrib>Schalkwijk, Joost</creatorcontrib><creatorcontrib>Ståhle, Mona</creatorcontrib><creatorcontrib>Burden, A David</creatorcontrib><creatorcontrib>Smith, Catherine H</creatorcontrib><creatorcontrib>Cork, Michael J</creatorcontrib><creatorcontrib>Estivill, Xavier</creatorcontrib><creatorcontrib>Bowcock, Anne M</creatorcontrib><creatorcontrib>Krueger, Gerald G</creatorcontrib><creatorcontrib>Weger, Wolfgang</creatorcontrib><creatorcontrib>Worthington, Jane</creatorcontrib><creatorcontrib>Tazi-Ahnini, Rachid</creatorcontrib><creatorcontrib>Nestle, Frank O</creatorcontrib><creatorcontrib>Hayday, Adrian</creatorcontrib><creatorcontrib>Hoffmann, Per</creatorcontrib><creatorcontrib>Winkelmann, Juliane</creatorcontrib><creatorcontrib>Wijmenga, Cisca</creatorcontrib><creatorcontrib>Langford, Cordelia</creatorcontrib><creatorcontrib>Edkins, Sarah</creatorcontrib><creatorcontrib>Andrews, Robert</creatorcontrib><creatorcontrib>Blackburn, Hannah</creatorcontrib><creatorcontrib>Strange, Amy</creatorcontrib><creatorcontrib>Band, Gavin</creatorcontrib><creatorcontrib>Pearson, Richard D</creatorcontrib><creatorcontrib>Vukcevic, Damjan</creatorcontrib><creatorcontrib>Spencer, Chris C A</creatorcontrib><creatorcontrib>Deloukas, Panos</creatorcontrib><creatorcontrib>Mrowietz, Ulrich</creatorcontrib><creatorcontrib>Schreiber, Stefan</creatorcontrib><creatorcontrib>Weidinger, Stephan</creatorcontrib><creatorcontrib>Koks, Sulev</creatorcontrib><creatorcontrib>Kingo, Külli</creatorcontrib><creatorcontrib>Esko, Tonu</creatorcontrib><creatorcontrib>Metspalu, Andres</creatorcontrib><creatorcontrib>Lim, Henry W</creatorcontrib><creatorcontrib>Voorhees, John J</creatorcontrib><creatorcontrib>Weichenthal, Michael</creatorcontrib><creatorcontrib>Wichmann, H Erich</creatorcontrib><creatorcontrib>Chandran, Vinod</creatorcontrib><creatorcontrib>Rosen, Cheryl F</creatorcontrib><creatorcontrib>Rahman, Proton</creatorcontrib><creatorcontrib>Gladman, Dafna D</creatorcontrib><creatorcontrib>Griffiths, Christopher E M</creatorcontrib><creatorcontrib>Reis, Andre</creatorcontrib><creatorcontrib>Kere, Juha</creatorcontrib><creatorcontrib>Nair, Rajan P</creatorcontrib><creatorcontrib>Franke, Andre</creatorcontrib><creatorcontrib>Barker, Jonathan N W N</creatorcontrib><creatorcontrib>Abecasis, Goncalo R</creatorcontrib><creatorcontrib>Elder, James T</creatorcontrib><creatorcontrib>Trembath, Richard C</creatorcontrib><creatorcontrib>Psoriasis Association Genetics Extension</creatorcontrib><creatorcontrib>Genetic Analysis of Psoriasis Consortium</creatorcontrib><creatorcontrib>Collaborative Association Study of Psoriasis (CASP)</creatorcontrib><creatorcontrib>Wellcome Trust Case Control Consortium 2</creatorcontrib><title>Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip array, in a total of 10,588 cases and 22,806 controls. They identify 15 new susceptibility loci and refine signals in previously known loci, highlighting a role for innate host defense in susceptibility to psoriasis.
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as
RUNX3
,
TAGAP
and
STAT3
). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (
DDX58
), macrophage activation (
ZC3H12C
) and nuclear factor (NF)-κB signaling (
CARD14
and
CARM1
). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense.</description><subject>631/208/205/2138</subject><subject>631/250/249/1313/1758</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Autoimmune diseases</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>CARD Signaling Adaptor Proteins - genetics</subject><subject>CARD Signaling Adaptor Proteins - immunology</subject><subject>Chromosomes</subject><subject>Core Binding Factor Alpha 3 Subunit - genetics</subject><subject>Core Binding Factor Alpha 3 Subunit - immunology</subject><subject>DEAD Box Protein 58</subject><subject>DEAD-box RNA Helicases - genetics</subject><subject>DEAD-box RNA Helicases - immunology</subject><subject>Dermatologi och venereologi</subject><subject>Dermatology</subject><subject>Dermatology and Venereal Diseases</subject><subject>Disease susceptibility</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene expression</subject><subject>Gene Function</subject><subject>genetic analysis</subject><subject>Genetic aspects</subject><subject>Genetic Loci</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome-Wide Association Study</subject><subject>GTPase-Activating Proteins - genetics</subject><subject>GTPase-Activating Proteins - immunology</subject><subject>Guanylate Cyclase - genetics</subject><subject>Guanylate Cyclase - immunology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Immunity, Innate - genetics</subject><subject>innate immunity</subject><subject>letter</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Proteins - immunology</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Physiological aspects</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Psoriasis</subject><subject>Psoriasis - genetics</subject><subject>Psoriasis - immunology</subject><subject>Psoriasis. Parapsoriasis. Lichen</subject><subject>Receptors, Immunologic</subject><subject>Risk factors</subject><subject>Skin - immunology</subject><subject>STAT3 Transcription Factor - genetics</subject><subject>STAT3 Transcription Factor - immunology</subject><subject>T-Lymphocytes - immunology</subject><subject>White People - genetics</subject><issn>1061-4036</issn><issn>1546-1718</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNqN0luL1DAUB_Aiiruu4jeQgIj60DEnl6bzuCxeBhYWvL1JSNukk7VNuknKut_elBl3GRSVUhpOf6cl_5yieAp4BZjWb1y_IqwS94pj4KwqQUB9P69xBSXDtDoqHsV4iTEwhuuHxRGhwChfs-Pi26bTLlljW5Wsd8gbBBw5fY2m6INV0UYU59jqKdnGDjbdoMG3Fm1tvx3ynSJKW42CH_TSa51TSSM7jrPL9nHxwKgh6if750nx5d3bz2cfyvOL95uz0_OyFYSnsmFGE86Bdw1nrGtFJTAzWLCGVqAASKUq03GgCjpjgNYVW-d9QiM0Jrjj9KQod9-N13qaGzkFO6pwI72ycl_6nldackoZY3_1_TzJXOrnxYNYGrJ_tfNT8FezjkmONmcyDMppP0eZ02SY8LXg_6aE5A2tCaGZPt_RXg1aWmd8CqpduDylAFSIfJZZrf6g8tXp0bbeaWNz_aDh9UFDNkn_SL2aY5SbTx__3158PbQvd7YNPsagzW1sgOUyhdL1cpnCLJ_tM5ibUXe37tfYZfBiD1Rs1WCCcq2Ndy6fP_Aa7sKM-ZXrdZCXfg4uj9Jv__wJ567uEw</recordid><startdate>20121201</startdate><enddate>20121201</enddate><creator>Tsoi, Lam C</creator><creator>Spain, Sarah L</creator><creator>Knight, Jo</creator><creator>Ellinghaus, Eva</creator><creator>Stuart, Philip E</creator><creator>Capon, Francesca</creator><creator>Ding, Jun</creator><creator>Li, Yanming</creator><creator>Tejasvi, Trilokraj</creator><creator>Gudjonsson, Johann E</creator><creator>Kang, Hyun M</creator><creator>Allen, Michael H</creator><creator>McManus, Ross</creator><creator>Novelli, Giuseppe</creator><creator>Samuelsson, Lena</creator><creator>Schalkwijk, Joost</creator><creator>Ståhle, Mona</creator><creator>Burden, A David</creator><creator>Smith, Catherine H</creator><creator>Cork, Michael J</creator><creator>Estivill, Xavier</creator><creator>Bowcock, Anne M</creator><creator>Krueger, Gerald G</creator><creator>Weger, Wolfgang</creator><creator>Worthington, Jane</creator><creator>Tazi-Ahnini, Rachid</creator><creator>Nestle, Frank O</creator><creator>Hayday, Adrian</creator><creator>Hoffmann, Per</creator><creator>Winkelmann, Juliane</creator><creator>Wijmenga, Cisca</creator><creator>Langford, Cordelia</creator><creator>Edkins, Sarah</creator><creator>Andrews, Robert</creator><creator>Blackburn, Hannah</creator><creator>Strange, Amy</creator><creator>Band, Gavin</creator><creator>Pearson, Richard D</creator><creator>Vukcevic, Damjan</creator><creator>Spencer, Chris C A</creator><creator>Deloukas, Panos</creator><creator>Mrowietz, Ulrich</creator><creator>Schreiber, Stefan</creator><creator>Weidinger, Stephan</creator><creator>Koks, Sulev</creator><creator>Kingo, Külli</creator><creator>Esko, Tonu</creator><creator>Metspalu, Andres</creator><creator>Lim, Henry W</creator><creator>Voorhees, John J</creator><creator>Weichenthal, Michael</creator><creator>Wichmann, H Erich</creator><creator>Chandran, Vinod</creator><creator>Rosen, Cheryl F</creator><creator>Rahman, Proton</creator><creator>Gladman, Dafna D</creator><creator>Griffiths, Christopher E M</creator><creator>Reis, Andre</creator><creator>Kere, Juha</creator><creator>Nair, Rajan P</creator><creator>Franke, Andre</creator><creator>Barker, Jonathan N W N</creator><creator>Abecasis, Goncalo R</creator><creator>Elder, James T</creator><creator>Trembath, Richard C</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>7X8</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>F1U</scope><scope>D8T</scope><scope>ZZAVC</scope></search><sort><creationdate>20121201</creationdate><title>Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity</title><author>Tsoi, Lam C ; Spain, Sarah L ; Knight, Jo ; Ellinghaus, Eva ; Stuart, Philip E ; Capon, Francesca ; Ding, Jun ; Li, Yanming ; Tejasvi, Trilokraj ; Gudjonsson, Johann E ; Kang, Hyun M ; Allen, Michael H ; McManus, Ross ; Novelli, Giuseppe ; Samuelsson, Lena ; Schalkwijk, Joost ; Ståhle, Mona ; Burden, A David ; Smith, Catherine H ; Cork, Michael J ; Estivill, Xavier ; Bowcock, Anne M ; Krueger, Gerald G ; Weger, Wolfgang ; Worthington, Jane ; Tazi-Ahnini, Rachid ; Nestle, Frank O ; Hayday, Adrian ; Hoffmann, Per ; Winkelmann, Juliane ; Wijmenga, Cisca ; Langford, Cordelia ; Edkins, Sarah ; Andrews, Robert ; Blackburn, Hannah ; Strange, Amy ; Band, Gavin ; Pearson, Richard D ; Vukcevic, Damjan ; Spencer, Chris C A ; Deloukas, Panos ; Mrowietz, Ulrich ; Schreiber, Stefan ; Weidinger, Stephan ; Koks, Sulev ; Kingo, Külli ; Esko, Tonu ; Metspalu, Andres ; Lim, Henry W ; Voorhees, John J ; Weichenthal, Michael ; Wichmann, H Erich ; Chandran, Vinod ; Rosen, Cheryl F ; Rahman, Proton ; Gladman, Dafna D ; Griffiths, Christopher E M ; Reis, Andre ; Kere, Juha ; Nair, Rajan P ; Franke, Andre ; Barker, Jonathan N W N ; Abecasis, Goncalo R ; Elder, James T ; Trembath, Richard C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c725t-b4fe25515db544dc76704f074b361a1126a6fd513a1dff1386491541b7e020d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>631/208/205/2138</topic><topic>631/250/249/1313/1758</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Autoimmune diseases</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>CARD Signaling Adaptor Proteins - genetics</topic><topic>CARD Signaling Adaptor Proteins - immunology</topic><topic>Chromosomes</topic><topic>Core Binding Factor Alpha 3 Subunit - genetics</topic><topic>Core Binding Factor Alpha 3 Subunit - immunology</topic><topic>DEAD Box Protein 58</topic><topic>DEAD-box RNA Helicases - genetics</topic><topic>DEAD-box RNA Helicases - immunology</topic><topic>Dermatologi och venereologi</topic><topic>Dermatology</topic><topic>Dermatology and Venereal Diseases</topic><topic>Disease susceptibility</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene expression</topic><topic>Gene Function</topic><topic>genetic analysis</topic><topic>Genetic aspects</topic><topic>Genetic Loci</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genome-Wide Association Study</topic><topic>GTPase-Activating Proteins - genetics</topic><topic>GTPase-Activating Proteins - immunology</topic><topic>Guanylate Cyclase - genetics</topic><topic>Guanylate Cyclase - immunology</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Immunity, Innate - genetics</topic><topic>innate immunity</topic><topic>letter</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Proteins - immunology</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Physiological aspects</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Psoriasis</topic><topic>Psoriasis - genetics</topic><topic>Psoriasis - immunology</topic><topic>Psoriasis. Parapsoriasis. Lichen</topic><topic>Receptors, Immunologic</topic><topic>Risk factors</topic><topic>Skin - immunology</topic><topic>STAT3 Transcription Factor - genetics</topic><topic>STAT3 Transcription Factor - immunology</topic><topic>T-Lymphocytes - immunology</topic><topic>White People - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tsoi, Lam C</creatorcontrib><creatorcontrib>Spain, Sarah L</creatorcontrib><creatorcontrib>Knight, Jo</creatorcontrib><creatorcontrib>Ellinghaus, Eva</creatorcontrib><creatorcontrib>Stuart, Philip E</creatorcontrib><creatorcontrib>Capon, Francesca</creatorcontrib><creatorcontrib>Ding, Jun</creatorcontrib><creatorcontrib>Li, Yanming</creatorcontrib><creatorcontrib>Tejasvi, Trilokraj</creatorcontrib><creatorcontrib>Gudjonsson, Johann E</creatorcontrib><creatorcontrib>Kang, Hyun M</creatorcontrib><creatorcontrib>Allen, Michael H</creatorcontrib><creatorcontrib>McManus, Ross</creatorcontrib><creatorcontrib>Novelli, Giuseppe</creatorcontrib><creatorcontrib>Samuelsson, Lena</creatorcontrib><creatorcontrib>Schalkwijk, Joost</creatorcontrib><creatorcontrib>Ståhle, Mona</creatorcontrib><creatorcontrib>Burden, A David</creatorcontrib><creatorcontrib>Smith, Catherine H</creatorcontrib><creatorcontrib>Cork, Michael J</creatorcontrib><creatorcontrib>Estivill, Xavier</creatorcontrib><creatorcontrib>Bowcock, Anne M</creatorcontrib><creatorcontrib>Krueger, Gerald G</creatorcontrib><creatorcontrib>Weger, Wolfgang</creatorcontrib><creatorcontrib>Worthington, Jane</creatorcontrib><creatorcontrib>Tazi-Ahnini, Rachid</creatorcontrib><creatorcontrib>Nestle, Frank O</creatorcontrib><creatorcontrib>Hayday, Adrian</creatorcontrib><creatorcontrib>Hoffmann, Per</creatorcontrib><creatorcontrib>Winkelmann, Juliane</creatorcontrib><creatorcontrib>Wijmenga, Cisca</creatorcontrib><creatorcontrib>Langford, Cordelia</creatorcontrib><creatorcontrib>Edkins, Sarah</creatorcontrib><creatorcontrib>Andrews, Robert</creatorcontrib><creatorcontrib>Blackburn, Hannah</creatorcontrib><creatorcontrib>Strange, Amy</creatorcontrib><creatorcontrib>Band, Gavin</creatorcontrib><creatorcontrib>Pearson, Richard D</creatorcontrib><creatorcontrib>Vukcevic, Damjan</creatorcontrib><creatorcontrib>Spencer, Chris C A</creatorcontrib><creatorcontrib>Deloukas, Panos</creatorcontrib><creatorcontrib>Mrowietz, Ulrich</creatorcontrib><creatorcontrib>Schreiber, Stefan</creatorcontrib><creatorcontrib>Weidinger, Stephan</creatorcontrib><creatorcontrib>Koks, Sulev</creatorcontrib><creatorcontrib>Kingo, Külli</creatorcontrib><creatorcontrib>Esko, Tonu</creatorcontrib><creatorcontrib>Metspalu, Andres</creatorcontrib><creatorcontrib>Lim, Henry W</creatorcontrib><creatorcontrib>Voorhees, John J</creatorcontrib><creatorcontrib>Weichenthal, Michael</creatorcontrib><creatorcontrib>Wichmann, H Erich</creatorcontrib><creatorcontrib>Chandran, Vinod</creatorcontrib><creatorcontrib>Rosen, Cheryl F</creatorcontrib><creatorcontrib>Rahman, Proton</creatorcontrib><creatorcontrib>Gladman, Dafna D</creatorcontrib><creatorcontrib>Griffiths, Christopher E M</creatorcontrib><creatorcontrib>Reis, Andre</creatorcontrib><creatorcontrib>Kere, Juha</creatorcontrib><creatorcontrib>Nair, Rajan P</creatorcontrib><creatorcontrib>Franke, Andre</creatorcontrib><creatorcontrib>Barker, Jonathan N W N</creatorcontrib><creatorcontrib>Abecasis, Goncalo R</creatorcontrib><creatorcontrib>Elder, James T</creatorcontrib><creatorcontrib>Trembath, Richard C</creatorcontrib><creatorcontrib>Psoriasis Association Genetics Extension</creatorcontrib><creatorcontrib>Genetic Analysis of Psoriasis Consortium</creatorcontrib><creatorcontrib>Collaborative Association Study of Psoriasis (CASP)</creatorcontrib><creatorcontrib>Wellcome Trust Case Control Consortium 2</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>MEDLINE - Academic</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Göteborgs universitet</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tsoi, Lam C</au><au>Spain, Sarah L</au><au>Knight, Jo</au><au>Ellinghaus, Eva</au><au>Stuart, Philip E</au><au>Capon, Francesca</au><au>Ding, Jun</au><au>Li, Yanming</au><au>Tejasvi, Trilokraj</au><au>Gudjonsson, Johann E</au><au>Kang, Hyun M</au><au>Allen, Michael H</au><au>McManus, Ross</au><au>Novelli, Giuseppe</au><au>Samuelsson, Lena</au><au>Schalkwijk, Joost</au><au>Ståhle, Mona</au><au>Burden, A David</au><au>Smith, Catherine H</au><au>Cork, Michael J</au><au>Estivill, Xavier</au><au>Bowcock, Anne M</au><au>Krueger, Gerald G</au><au>Weger, Wolfgang</au><au>Worthington, Jane</au><au>Tazi-Ahnini, Rachid</au><au>Nestle, Frank O</au><au>Hayday, Adrian</au><au>Hoffmann, Per</au><au>Winkelmann, Juliane</au><au>Wijmenga, Cisca</au><au>Langford, Cordelia</au><au>Edkins, Sarah</au><au>Andrews, Robert</au><au>Blackburn, Hannah</au><au>Strange, Amy</au><au>Band, Gavin</au><au>Pearson, Richard D</au><au>Vukcevic, Damjan</au><au>Spencer, Chris C A</au><au>Deloukas, Panos</au><au>Mrowietz, Ulrich</au><au>Schreiber, Stefan</au><au>Weidinger, Stephan</au><au>Koks, Sulev</au><au>Kingo, Külli</au><au>Esko, Tonu</au><au>Metspalu, Andres</au><au>Lim, Henry W</au><au>Voorhees, John J</au><au>Weichenthal, Michael</au><au>Wichmann, H Erich</au><au>Chandran, Vinod</au><au>Rosen, Cheryl F</au><au>Rahman, Proton</au><au>Gladman, Dafna D</au><au>Griffiths, Christopher E M</au><au>Reis, Andre</au><au>Kere, Juha</au><au>Nair, Rajan P</au><au>Franke, Andre</au><au>Barker, Jonathan N W N</au><au>Abecasis, Goncalo R</au><au>Elder, James T</au><au>Trembath, Richard C</au><aucorp>Psoriasis Association Genetics Extension</aucorp><aucorp>Genetic Analysis of Psoriasis Consortium</aucorp><aucorp>Collaborative Association Study of Psoriasis (CASP)</aucorp><aucorp>Wellcome Trust Case Control Consortium 2</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2012-12-01</date><risdate>2012</risdate><volume>44</volume><issue>12</issue><spage>1341</spage><epage>1348</epage><pages>1341-1348</pages><issn>1061-4036</issn><issn>1546-1718</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip array, in a total of 10,588 cases and 22,806 controls. They identify 15 new susceptibility loci and refine signals in previously known loci, highlighting a role for innate host defense in susceptibility to psoriasis.
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as
RUNX3
,
TAGAP
and
STAT3
). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (
DDX58
), macrophage activation (
ZC3H12C
) and nuclear factor (NF)-κB signaling (
CARD14
and
CARM1
). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>23143594</pmid><doi>10.1038/ng.2467</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
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language | eng |
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source | MEDLINE; SpringerLink Journals; SWEPUB Freely available online; Nature Journals Online |
subjects | 631/208/205/2138 631/250/249/1313/1758 Agriculture Animal Genetics and Genomics Autoimmune diseases Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research CARD Signaling Adaptor Proteins - genetics CARD Signaling Adaptor Proteins - immunology Chromosomes Core Binding Factor Alpha 3 Subunit - genetics Core Binding Factor Alpha 3 Subunit - immunology DEAD Box Protein 58 DEAD-box RNA Helicases - genetics DEAD-box RNA Helicases - immunology Dermatologi och venereologi Dermatology Dermatology and Venereal Diseases Disease susceptibility Fundamental and applied biological sciences. Psychology Gene expression Gene Function genetic analysis Genetic aspects Genetic Loci Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study GTPase-Activating Proteins - genetics GTPase-Activating Proteins - immunology Guanylate Cyclase - genetics Guanylate Cyclase - immunology Human Genetics Humans Immunity, Innate - genetics innate immunity letter Medical sciences Membrane Proteins - genetics Membrane Proteins - immunology Oligonucleotide Array Sequence Analysis Physiological aspects Polymorphism, Single Nucleotide Psoriasis Psoriasis - genetics Psoriasis - immunology Psoriasis. Parapsoriasis. Lichen Receptors, Immunologic Risk factors Skin - immunology STAT3 Transcription Factor - genetics STAT3 Transcription Factor - immunology T-Lymphocytes - immunology White People - genetics |
title | Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity |
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