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Literature DB >> 18794853

Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

Soumya Raychaudhuri¹, Elaine F Remmers, Annette T Lee, Rachel Hackett, Candace Guiducci, Noël P Burtt, Lauren Gianniny, Benjamin D Korman, Leonid Padyukov, Fina A S Kurreeman, Monica Chang, Joseph J Catanese, Bo Ding, Sandra Wong, Annette H M van der Helm-van Mil, Benjamin M Neale, Jonathan Coblyn, Jing Cui, Paul P Tak, Gert Jan Wolbink, J Bart A Crusius, Irene E van der Horst-Bruinsma, Lindsey A Criswell, Christopher I Amos, Michael F Seldin, Daniel L Kastner, Kristin G Ardlie, Lars Alfredsson, Karen H Costenbader, David Altshuler, Tom W J Huizinga, Nancy A Shadick, Michael E Weinblatt, Niek de Vries, Jane Worthington, Mark Seielstad, Rene E M Toes, Elizabeth W Karlson, Ann B Begovich, Lars Klareskog, Peter K Gregersen, Mark J Daly, Robert M Plenge.

Abstract

To identify rheumatoid arthritis risk loci in European populations, we conducted a meta-analysis of two published genome-wide association (GWA) studies totaling 3,393 cases and 12,462 controls. We genotyped 31 top-ranked SNPs not previously associated with rheumatoid arthritis in an independent replication of 3,929 autoantibody-positive rheumatoid arthritis cases and 5,807 matched controls from eight separate collections. We identified a common variant at the CD40 gene locus (rs4810485, P = 0.0032 replication, P = 8.2 x 10(-9) overall, OR = 0.87). Along with other associations near TRAF1 (refs. 2,3) and TNFAIP3 (refs. 4,5), this implies a central role for the CD40 signaling pathway in rheumatoid arthritis pathogenesis. We also identified association at the CCL21 gene locus (rs2812378, P = 0.00097 replication, P = 2.8 x 10(-7) overall), a gene involved in lymphocyte trafficking. Finally, we identified evidence of association at four additional gene loci: MMEL1-TNFRSF14 (rs3890745, P = 0.0035 replication, P = 1.1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall).

Entities: Chemical

Mesh：

Substances：
CD40 Antigens

Year: 2008 PMID： 18794853 PMCID： PMC2757650 DOI： 10.1038/ng.233

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

30 in total

1. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.

Authors: A J MacGregor; H Snieder; A S Rigby; M Koskenvuo; J Kaprio; K Aho; A J Silman
Journal: Arthritis Rheum Date: 2000-01

2. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.

Authors: Robert M Plenge; Chris Cotsapas; Leela Davies; Alkes L Price; Paul I W de Bakker; Julian Maller; Itsik Pe'er; Noel P Burtt; Brendan Blumenstiel; Matt DeFelice; Melissa Parkin; Rachel Barry; Wendy Winslow; Claire Healy; Robert R Graham; Benjamin M Neale; Elena Izmailova; Ronenn Roubenoff; Alexander N Parker; Roberta Glass; Elizabeth W Karlson; Nancy Maher; David A Hafler; David M Lee; Michael F Seldin; Elaine F Remmers; Annette T Lee; Leonid Padyukov; Lars Alfredsson; Jonathan Coblyn; Michael E Weinblatt; Stacey B Gabriel; Shaun Purcell; Lars Klareskog; Peter K Gregersen; Nancy A Shadick; Mark J Daly; David Altshuler
Journal: Nat Genet Date: 2007-11-04 Impact factor: 38.330

3. A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression.

Authors: E M Jacobson; A K Huber; N Akeno; M Sivak; C W Li; E Concepcion; K Ho; Y Tomer
Journal: Genes Immun Date: 2007-03-08 Impact factor: 2.676

Review 4. Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.

Authors: Vassilios Lougaris; Raffaele Badolato; Simona Ferrari; Alessandro Plebani
Journal: Immunol Rev Date: 2005-02 Impact factor: 12.988

5. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.

Authors: Robert M Plenge; Leonid Padyukov; Elaine F Remmers; Shaun Purcell; Annette T Lee; Elizabeth W Karlson; Frederick Wolfe; Daniel L Kastner; Lars Alfredsson; David Altshuler; Peter K Gregersen; Lars Klareskog; John D Rioux
Journal: Am J Hum Genet Date: 2005-11-01 Impact factor: 11.025

6. Prevention of collagen-induced arthritis with an antibody to gp39, the ligand for CD40.

Authors: F H Durie; R A Fava; T M Foy; A Aruffo; J A Ledbetter; R J Noelle
Journal: Science Date: 1993-09-03 Impact factor: 47.728

7. 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

8. CD40 signaling-mediated induction of Bcl-XL, Cdk4, and Cdk6. Implication of their cooperation in selective B cell growth.

Authors: T Ishida; N Kobayashi; T Tojo; S Ishida; T Yamamoto; J Inoue
Journal: J Immunol Date: 1995-12-15 Impact factor: 5.422

9. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Authors:
Journal: Nature Date: 2007-06-07 Impact factor: 49.962

10. Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.

Authors: Anne Barton; Wendy Thomson; Xiayi Ke; Steve Eyre; Anne Hinks; John Bowes; Darren Plant; Laura J Gibbons; Anthony G Wilson; Deborah E Bax; Ann W Morgan; Paul Emery; Sophia Steer; Lynne Hocking; David M Reid; Paul Wordsworth; Pille Harrison; Jane Worthington
Journal: Nat Genet Date: 2008-09-14 Impact factor: 38.330

246 in total

1. A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.

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

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

Authors: Eli A Stahl; 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
Journal: Nat Genet Date: 2010-05-09 Impact factor: 38.330

Review 3. TNF superfamily in inflammatory disease: translating basic insights.

Authors: Michael Croft; Wei Duan; Heonsik Choi; So-Young Eun; Shravan Madireddi; Amit Mehta
Journal: Trends Immunol Date: 2011-12-13 Impact factor: 16.687

4. Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.

Authors: Young Ho Lee; Sang-Cheol Bae; Sung Jae Choi; Jong Dae Ji; Gwan Gyu Song
Journal: Inflamm Res Date: 2012-03-09 Impact factor: 4.575

Review 5. Unraveling the genetic component of systemic sclerosis.

Authors: José Ezequiel Martín; Lara Bossini-Castillo; Javier Martín
Journal: Hum Genet Date: 2012-01-05 Impact factor: 4.132

6. A genome-wide association study identifies three new risk loci for Kawasaki disease.

Authors: Yoshihiro Onouchi; Kouichi Ozaki; Jane C Burns; Chisato Shimizu; Masaru Terai; Hiromichi Hamada; Takafumi Honda; Hiroyuki Suzuki; Tomohiro Suenaga; Takashi Takeuchi; Norishige Yoshikawa; Yoichi Suzuki; Kumi Yasukawa; Ryota Ebata; Kouji Higashi; Tsutomu Saji; Yasushi Kemmotsu; Shinichi Takatsuki; Kazunobu Ouchi; Fumio Kishi; Tetsushi Yoshikawa; Toshiro Nagai; Kunihiro Hamamoto; Yoshitake Sato; Akihito Honda; Hironobu Kobayashi; Junichi Sato; Shoichi Shibuta; Masakazu Miyawaki; Ko Oishi; Hironobu Yamaga; Noriyuki Aoyagi; Seiji Iwahashi; Ritsuko Miyashita; Yuji Murata; Kumiko Sasago; Atsushi Takahashi; Naoyuki Kamatani; Michiaki Kubo; Tatsuhiko Tsunoda; Akira Hata; Yusuke Nakamura; Toshihiro Tanaka
Journal: Nat Genet Date: 2012-03-25 Impact factor: 38.330

10. Targeted genomic deletions identify diverse enhancer functions and generate a kidney-specific, endocrine-deficient Cyp27b1 pseudo-null mouse.

Authors: Mark B Meyer; Nancy A Benkusky; Martin Kaufmann; Seong Min Lee; Robert R Redfield; Glenville Jones; J Wesley Pike
Journal: J Biol Chem Date: 2019-05-03 Impact factor: 5.157