Literature DB >> 20453842

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

Eli A Stahl1, Soumya Raychaudhuri, Elaine F Remmers, Gang Xie, Stephen Eyre, Brian P Thomson, Yonghong Li, Fina A S Kurreeman, Alexandra Zhernakova, Anne Hinks, Candace Guiducci, Robert Chen, Lars Alfredsson, Christopher I Amos, Kristin G Ardlie, Anne Barton, John Bowes, Elisabeth Brouwer, Noel P Burtt, Joseph J Catanese, Jonathan Coblyn, Marieke J H Coenen, Karen H Costenbader, Lindsey A Criswell, J Bart A Crusius, Jing Cui, Paul I W de Bakker, Philip L De Jager, Bo Ding, Paul Emery, Edward Flynn, Pille Harrison, Lynne J Hocking, Tom W J Huizinga, Daniel L Kastner, Xiayi Ke, Annette T Lee, Xiangdong Liu, Paul Martin, Ann W Morgan, Leonid Padyukov, Marcel D Posthumus, Timothy R D J Radstake, David M Reid, Mark Seielstad, Michael F Seldin, Nancy A Shadick, Sophia Steer, Paul P Tak, Wendy Thomson, Annette H M van der Helm-van Mil, Irene E van der Horst-Bruinsma, C Ellen van der Schoot, Piet L C M van Riel, Michael E Weinblatt, Anthony G Wilson, Gert Jan Wolbink, B Paul Wordsworth, Cisca Wijmenga, Elizabeth W Karlson, Rene E M Toes, Niek de Vries, Ann B Begovich, Jane Worthington, Katherine A Siminovitch, Peter K Gregersen, Lars Klareskog, Robert M Plenge.   

Abstract

To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases) and 20,169 controls of European descent, followed by replication in an independent set of 6,768 rheumatoid arthritis cases and 8,806 controls. Of 34 SNPs selected for replication, 7 new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 x 10(-8)) in an analysis of all 41,282 samples. The associated SNPs are near genes of known immune function, including IL6ST, SPRED2, RBPJ, CCR6, IRF5 and PXK. We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. These new associations bring the total number of confirmed rheumatoid arthritis risk loci to 31 among individuals of European ancestry. An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles.

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Year:  2010        PMID: 20453842      PMCID: PMC4243840          DOI: 10.1038/ng.582

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  56 in total

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Journal:  Nat Genet       Date:  2009-10-18       Impact factor: 38.330

Review 2.  Structural alterations in peptide-MHC recognition by self-reactive T cell receptors.

Authors:  Kai W Wucherpfennig; Melissa J Call; Lu Deng; Roy Mariuzza
Journal:  Curr Opin Immunol       Date:  2009-08-19       Impact factor: 7.486

3.  Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.

Authors:  Calliope A Dendrou; Vincent Plagnol; Erik Fung; Jennie H M Yang; Kate Downes; Jason D Cooper; Sarah Nutland; Gillian Coleman; Matthew Himsworth; Matthew Hardy; Oliver Burren; Barry Healy; Neil M Walker; Kerstin Koch; Willem H Ouwehand; John R Bradley; Nicholas J Wareham; John A Todd; Linda S Wicker
Journal:  Nat Genet       Date:  2009-08-23       Impact factor: 38.330

4.  TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

Authors:  Robert M Plenge; Mark Seielstad; Leonid Padyukov; Annette T Lee; Elaine F Remmers; Bo Ding; Anthony Liew; Houman Khalili; Alamelu Chandrasekaran; Leela R L Davies; Wentian Li; Adrian K S Tan; Carine Bonnard; Rick T H Ong; Anbupalam Thalamuthu; Sven Pettersson; Chunyu Liu; Chao Tian; Wei V Chen; John P Carulli; Evan M Beckman; David Altshuler; Lars Alfredsson; Lindsey A Criswell; Christopher I Amos; Michael F Seldin; Daniel L Kastner; Lars Klareskog; Peter K Gregersen
Journal:  N Engl J Med       Date:  2007-09-05       Impact factor: 91.245

5.  Common and different genetic background for rheumatoid arthritis and coeliac disease.

Authors:  Marieke J H Coenen; Gosia Trynka; Sandra Heskamp; Barbara Franke; Cleo C van Diemen; Joanna Smolonska; Miek van Leeuwen; Elisabeth Brouwer; Marike H Boezen; Dirkje S Postma; Mathieu Platteel; Pieter Zanen; Jan-Willem W J Lammers; Harry J M Groen; Willem P T M Mali; Chris J Mulder; Greetje J Tack; Wieke H M Verbeek; Victorien M Wolters; Roderick H J Houwen; M Luisa Mearin; David A van Heel; Timothy R D J Radstake; Piet L C M van Riel; Cisca Wijmenga; Pilar Barrera; Alexandra Zhernakova
Journal:  Hum Mol Genet       Date:  2009-07-31       Impact factor: 6.150

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Authors:  Robert M Plenge
Journal:  Curr Opin Rheumatol       Date:  2009-05       Impact factor: 5.006

7.  Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

Authors:  Philip L De Jager; Xiaoming Jia; Joanne Wang; Paul I W de Bakker; Linda Ottoboni; Neelum T Aggarwal; Laura Piccio; Soumya Raychaudhuri; Dong Tran; Cristin Aubin; Rebeccah Briskin; Susan Romano; Sergio E Baranzini; Jacob L McCauley; Margaret A Pericak-Vance; Jonathan L Haines; Rachel A Gibson; Yvonne Naeglin; Bernard Uitdehaag; Paul M Matthews; Ludwig Kappos; Chris Polman; Wendy L McArdle; David P Strachan; Denis Evans; Anne H Cross; Mark J Daly; Alastair Compston; Stephen J Sawcer; Howard L Weiner; Stephen L Hauser; David A Hafler; Jorge R Oksenberg
Journal:  Nat Genet       Date:  2009-06-14       Impact factor: 38.330

8.  Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Authors:  Soumya Raychaudhuri; Robert M Plenge; Elizabeth J Rossin; Aylwin C Y Ng; Shaun M Purcell; Pamela Sklar; Edward M Scolnick; Ramnik J Xavier; David Altshuler; Mark J Daly
Journal:  PLoS Genet       Date:  2009-06-26       Impact factor: 5.917

9.  REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

Authors:  Peter K Gregersen; Chistopher I Amos; Annette T Lee; Yue Lu; Elaine F Remmers; Daniel L Kastner; Michael F Seldin; Lindsey A Criswell; Robert M Plenge; V Michael Holers; Ted R Mikuls; Tuulikki Sokka; Larry W Moreland; S Louis Bridges; Gang Xie; Ann B Begovich; Katherine A Siminovitch
Journal:  Nat Genet       Date:  2009-06-07       Impact factor: 38.330

10.  Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.

Authors:  Soumya Raychaudhuri; Brian P Thomson; Elaine F Remmers; Stephen Eyre; Anne Hinks; Candace Guiducci; Joseph J Catanese; Gang Xie; Eli A Stahl; Robert Chen; Lars Alfredsson; Christopher I Amos; Kristin G Ardlie; Anne Barton; John Bowes; Noel P Burtt; Monica Chang; Jonathan Coblyn; Karen H Costenbader; Lindsey A Criswell; J Bart A Crusius; Jing Cui; Phillip L De Jager; Bo Ding; Paul Emery; Edward Flynn; Pille Harrison; Lynne J Hocking; Tom W J Huizinga; Daniel L Kastner; Xiayi Ke; Fina A S Kurreeman; Annette T Lee; Xiangdong Liu; Yonghong Li; Paul Martin; Ann W Morgan; Leonid Padyukov; David M Reid; Mark Seielstad; Michael F Seldin; Nancy A Shadick; Sophia Steer; Paul P Tak; Wendy Thomson; Annette H M van der Helm-van Mil; Irene E van der Horst-Bruinsma; Michael E Weinblatt; Anthony G Wilson; Gert Jan Wolbink; Paul Wordsworth; David Altshuler; Elizabeth W Karlson; Rene E M Toes; Niek de Vries; Ann B Begovich; Katherine A Siminovitch; Jane Worthington; Lars Klareskog; Peter K Gregersen; Mark J Daly; Robert M Plenge
Journal:  Nat Genet       Date:  2009-11-08       Impact factor: 38.330

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  596 in total

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Authors:  Yuta Kochi; Yukinori Okada; Akari Suzuki; Katsunori Ikari; Chikashi Terao; Atsushi Takahashi; Keiko Yamazaki; Naoya Hosono; Keiko Myouzen; Tatsuhiko Tsunoda; Naoyuki Kamatani; Tatsuya Furuichi; Shiro Ikegawa; Koichiro Ohmura; Tsuneyo Mimori; Fumihiko Matsuda; Takuji Iwamoto; Shigeki Momohara; Hisashi Yamanaka; Ryo Yamada; Michiaki Kubo; Yusuke Nakamura; Kazuhiko Yamamoto
Journal:  Nat Genet       Date:  2010-05-09       Impact factor: 38.330

Review 2.  The epigenetics of autoimmunity.

Authors:  Francesca Meda; Marco Folci; Andrea Baccarelli; Carlo Selmi
Journal:  Cell Mol Immunol       Date:  2011-01-31       Impact factor: 11.530

3.  Disease-promoting and -protective genomic loci on mouse chromosomes 3 and 19 control the incidence and severity of autoimmune arthritis.

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Journal:  Genes Immun       Date:  2012-03-08       Impact factor: 2.676

Review 4.  RA in 2011: Advances in diagnosis, treatment and definition of remission.

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5.  A CCR6 variant strongly associated with rheumatoid arthritis in two populations is not associated with ankylosing spondylitis.

Authors:  Carla J Cohen; Tugce Karaderi; Jennifer J Pointon; B Paul Wordsworth
Journal:  Rheumatol Int       Date:  2012-04-08       Impact factor: 2.631

Review 6.  What have genome-wide studies told us about psoriatic arthritis?

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7.  Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.

Authors:  Sharon A Chung; Gang Xie; Delnaz Roshandel; Richard Sherva; Jeffrey C Edberg; Megan Kravitz; Paul F Dellaripa; Gary S Hoffman; Alfred D Mahr; Philip Seo; Ulrich Specks; Robert F Spiera; E William St Clair; John H Stone; Robert M Plenge; Katherine A Siminovitch; Peter A Merkel; Paul A Monach
Journal:  Arthritis Rheum       Date:  2012-10

8.  From HLA association to function.

Authors:  Jeffrey C Barrett
Journal:  Nat Genet       Date:  2012-02-27       Impact factor: 38.330

9.  Study of cannabinoid receptor 2 Q63R gene polymorphism in Lebanese patients with rheumatoid arthritis.

Authors:  Morouj Ismail; Ghada Khawaja
Journal:  Clin Rheumatol       Date:  2018-07-21       Impact factor: 2.980

Review 10.  The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping.

Authors:  Stephen Eyre; Gisela Orozco; Jane Worthington
Journal:  Nat Rev Rheumatol       Date:  2017-06-01       Impact factor: 20.543

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