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ABSTRACT We carried out a meta-analysis of two recent psoriasis genome-wide association studies1,2 with a combined discovery sample of 1,831 affected individuals (cases) and 2,546 controls.
One hundred and two loci selected based on _P_ value rankings were followed up in a three-stage replication study including 4,064 cases and 4,685 controls from Michigan, Toronto,
Newfoundland and Germany. In the combined meta-analysis, we identified three new susceptibility loci, including one at _NOS2_ (rs4795067, combined _P_ = 4 × 10−11), one at _FBXL19_
(rs10782001, combined _P_ = 9 × 10−10) and one near _PSMA6_-_NFKBIA_ (rs12586317, combined _P_ = 2 × 10−8). All three loci were also associated with psoriatic arthritis (rs4795067, combined
_P_ = 1 × 10−5; rs10782001, combined _P_ = 4 × 10−8; and rs12586317, combined _P_ = 6 × 10−5) and purely cutaneous psoriasis (rs4795067, combined _P_ = 1 × 10−8; rs10782001, combined _P_ = 2
× 10−6; and rs12586317, combined _P_ = 1 × 10−6). We also replicated a recently identified3 association signal near _RNF114_ (rs495337, combined _P_ = 2 × 10−7). Access through your
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BEING VIEWED BY OTHERS GWAS META-ANALYSIS OF PSORIASIS IDENTIFIES NEW SUSCEPTIBILITY ALLELES IMPACTING DISEASE MECHANISMS AND THERAPEUTIC TARGETS Article Open access 28 February 2025
DISENTANGLING THE COMPLEXITY OF PSORIASIS IN THE POST-GENOME-WIDE ASSOCIATION ERA Article 16 September 2023 COPHESCAN: PHENOME-WIDE ASSOCIATION STUDIES ACCOUNTING FOR LINKAGE DISEQUILIBRIUM
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uninvolved psoriatic skin. _J. Invest. Dermatol._ 129, 2795–2804 (2009). Google Scholar Download references ACKNOWLEDGEMENTS The authors wish to thank the many psoriasis and PsA cases and
normal controls who participated in this study and to acknowledge the key contributions of K. Callis Duffin, D. Goldgar and B. Jian Feng of the University of Utah and C. Helms of Washington
University at St. Louis to the CASP study. This research was supported by grants R01AR42742, R01AR050511, R01AR054966, R01AR050266, R01HG002651 and U01HG005214 from the US National
Institutes of Health, by the Ann Arbor Veterans Affairs Hospital, by the German Ministry of Education and Research through the National Genome Research Network (BMFT 01GS 0171/ BMBF
NUW-S23T10) and by the Krembil Foundation and the Canadian Institutes of Health Research. AUTHOR INFORMATION Author notes * Philip E Stuart and Rajan P Nair: These authors contributed
equally to this work. AUTHORS AND AFFILIATIONS * Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan, USA Philip E Stuart, Rajan P Nair, Trilokraj Tejasvi,
Johann E Gudjonsson, John J Voorhees & James T Elder * Institute for Clinical Molecular Biology, University of Kiel, Kiel, Germany Eva Ellinghaus & Andre Franke * Department of
Biostatistics, Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA Jun Ding, Yun Li & Gonçalo R Abecasis * Department of
Dermatology and Allergy, Technical University Munich, Munich, Germany Stephan Weidinger & Bernadette Eberlein * Institute of Medical Informatics, Biometry and Epidemiology,
Ludwig-Maximilians-University, Munich, Germany Christian Gieger & H Erich Wichmann * Comprehensive Center for Inflammation Medicine, University of Lübeck, Lübeck, Germany Manfred Kunz *
Department of Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA Robert Ike * Department of Dermatology, University of Utah, Salt Lake City, Utah, USA Gerald G Krueger
* Division of Human Genetics, Department of Genetics, Washington University at St. Louis, St. Louis, Missouri, USA Anne M Bowcock * Department of Dermatology, University of Kiel, Kiel,
Germany Ulrich Mrowietz & Michael Weichenthal * Department of Dermatology, Henry Ford Hospital, Detroit, Michigan, USA Henry W Lim * Department of Medicine, Memorial University, St.
John's, Newfoundland, Canada Proton Rahman * Department of Rheumatology, University of Toronto, Toronto, Ontario, Canada Dafna D Gladman * Ann Arbor Veterans Affairs Medical Center, Ann
Arbor, Michigan, USA James T Elder Authors * Philip E Stuart View author publications You can also search for this author inPubMed Google Scholar * Rajan P Nair View author publications You
can also search for this author inPubMed Google Scholar * Eva Ellinghaus View author publications You can also search for this author inPubMed Google Scholar * Jun Ding View author
publications You can also search for this author inPubMed Google Scholar * Trilokraj Tejasvi View author publications You can also search for this author inPubMed Google Scholar * Johann E
Gudjonsson View author publications You can also search for this author inPubMed Google Scholar * Yun Li View author publications You can also search for this author inPubMed Google Scholar
* Stephan Weidinger View author publications You can also search for this author inPubMed Google Scholar * Bernadette Eberlein View author publications You can also search for this author
inPubMed Google Scholar * Christian Gieger View author publications You can also search for this author inPubMed Google Scholar * H Erich Wichmann View author publications You can also
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can also search for this author inPubMed Google Scholar * Gerald G Krueger View author publications You can also search for this author inPubMed Google Scholar * Anne M Bowcock View author
publications You can also search for this author inPubMed Google Scholar * Ulrich Mrowietz View author publications You can also search for this author inPubMed Google Scholar * Henry W Lim
View author publications You can also search for this author inPubMed Google Scholar * John J Voorhees View author publications You can also search for this author inPubMed Google Scholar *
Gonçalo R Abecasis View author publications You can also search for this author inPubMed Google Scholar * Michael Weichenthal View author publications You can also search for this author
inPubMed Google Scholar * Andre Franke View author publications You can also search for this author inPubMed Google Scholar * Proton Rahman View author publications You can also search for
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also search for this author inPubMed Google Scholar CONTRIBUTIONS R.P.N., P.E.S. and J.T.E. performed SNP selection, data analysis and prepared the figures and tables. R.P.N., T.T., P.E.S.,
P.R. and E.E. performed genotyping. P.E.S., Y.L. and J.D. performed genotype imputation and association analyses, and P.E.S., J.E.G., and J.D. performed the expression analyses. G.R.A.
helped with statistical analyses and interpretation of results. R.P.N., T.T., J.J.V., R.I., M.W., S.W., B.E., C.G., H.E.W., H.W.L., P.R., M.K., U.M. and D.D.G. coordinated subject
recruitment and collected phenotype data. J.T.E., G.G.K. and A.M.B. contributed genotypes and phenotypes from the CASP discovery GWAS. J.T.E. and P.E.S. drafted the manuscript; R.P.N.,
G.R.A., E.E., M.W. and A.F. edited the manuscript; and J.T.E. planned and supervised the study. All authors approved the final draft. CORRESPONDING AUTHOR Correspondence to James T Elder.
ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no competing financial interests. SUPPLEMENTARY INFORMATION SUPPLEMENTARY TEXT AND FIGURES Supplementary Tables 1–6 and
Supplementary Figures 1 and 2. (PDF 2747 kb) RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Stuart, P., Nair, R., Ellinghaus, E. _et al._ Genome-wide
association analysis identifies three psoriasis susceptibility loci. _Nat Genet_ 42, 1000–1004 (2010). https://doi.org/10.1038/ng.693 Download citation * Received: 09 March 2010 * Accepted:
09 July 2010 * Published: 17 October 2010 * Issue Date: November 2010 * DOI: https://doi.org/10.1038/ng.693 SHARE THIS ARTICLE Anyone you share the following link with will be able to read
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