High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

Eyre, Steve, Bowes, John, Diogo, Dorothee, Lee, Annette, Barton, Anne, Martin, Paul, Zhernakova, Alexandra, Stahl, Eli, Viatte, Sebastien, McAllister, Kate, Amos, Christopher I., Padyukov, Leonid, Toes, Rene E. M., Huizinga, Tom W. J., Wijmenga, Cisca, Trynka, Gosia, Franke, Lude, Westra, Harm-Jan, Alfredsson, Lars, Hu, Xinli, Sandor, Cynthia, de Bakker, Paul I. W., Davila, Sonia, Khor, Chiea Chuen, Heng, Khai Koon, Andrews, Robert, Edkins, Sarah, Hunt, Sarah E., Langford, Cordelia, Symmons, Deborah, Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate, Wellcome Trust Case Control Consortium, Concannon, Pat, Onengut-Gumuscu, Suna, Rich, Stephen S., Deloukas, Panos, Gonzalez-Gay, Miguel A., Rodriguez-Rodriguez, Luis, Arlsetig, Lisbeth, Martin, Javier, Rantapaa-Dahlqvist, Solbritt, Plenge, Robert M., Raychaudhuri, Soumya, Klareskog, Lars, Gregersen, Peter K., Worthington, Jane, Bradbury, Linda A., Pointon, Jennifer J. and Brown, Matthew A. (2012) High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nature Genetics, 44 12: 1336-1340. doi:10.1038/ng.2462

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Author Eyre, Steve
Bowes, John
Diogo, Dorothee
Lee, Annette
Barton, Anne
Martin, Paul
Zhernakova, Alexandra
Stahl, Eli
Viatte, Sebastien
McAllister, Kate
Amos, Christopher I.
Padyukov, Leonid
Toes, Rene E. M.
Huizinga, Tom W. J.
Wijmenga, Cisca
Trynka, Gosia
Franke, Lude
Westra, Harm-Jan
Alfredsson, Lars
Hu, Xinli
Sandor, Cynthia
de Bakker, Paul I. W.
Davila, Sonia
Khor, Chiea Chuen
Heng, Khai Koon
Andrews, Robert
Edkins, Sarah
Hunt, Sarah E.
Langford, Cordelia
Symmons, Deborah
Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate
Wellcome Trust Case Control Consortium
Concannon, Pat
Onengut-Gumuscu, Suna
Rich, Stephen S.
Deloukas, Panos
Gonzalez-Gay, Miguel A.
Rodriguez-Rodriguez, Luis
Arlsetig, Lisbeth
Martin, Javier
Rantapaa-Dahlqvist, Solbritt
Plenge, Robert M.
Raychaudhuri, Soumya
Klareskog, Lars
Gregersen, Peter K.
Worthington, Jane
Bradbury, Linda A.
Pointon, Jennifer J.
Brown, Matthew A.
Total Author Count Override 415
Title High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2012-12
Year available 2012
Sub-type Article (original research)
DOI 10.1038/ng.2462
Volume 44
Issue 12
Start page 1336
End page 1340
Total pages 5
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Group
Collection year 2013
Language eng
Abstract Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. We combined these data in a meta-analysis with GWAS data from additional independent cases (n = 2,363) and controls (n = 17,872). We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were specifically associated with disease that was positive for anticitrullinated peptide antibodies, bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. This study illustrates the advantages of dense SNP mapping analysis to inform subsequent functional investigations.
Keyword Coronary-heart-disease
Risk loci
Interleukin-6 receptor
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 199 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 219 times in Scopus Article | Citations
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Created: Mon, 15 Apr 2013, 11:54:56 EST by Kylie Hengst on behalf of UQ Diamantina Institute