DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Rheumatoid arthritis. The EFO term rheumatoid arthritis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: rheumatoid arthritis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

S Raychaudhuri, EF Remmers, AT Lee, R Hackett, C Guiducci, NP Burtt, L Gianniny, BD Korman, L Padyukov, FA Kurreeman, M Chang, JJ Catanese, B Ding, S Wong, AH van der Helm-van Mil, BM Neale, J Coblyn, J Cui, PP Tak, GJ Wolbink, JB Crusius, IE van der Horst-Bruinsma, LA Criswell, CI Amos, MF Seldin, DL Kastner, KG Ardlie, L Alfredsson, KH Costenbader, D Altshuler, TW Huizinga, NA Shadick, ME Weinblatt, N de Vries, J Worthington, M Seielstad, RE Toes, EW Karlson, AB Begovich, L Klareskog, PK Gregersen, MJ Daly, RM Plenge

TITLE:

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

JOURNAL:

Nature genetics Oct 2008, Vol 40, pp. 1216-23

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). PUBMED: 18794853
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