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 Psoriatic arthritis. The EFO term psoriatic 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: psoriatic arthritis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

U Hüffmeier, S Uebe, AB Ekici, J Bowes, E Giardina, E Korendowych, K Juneblad, M Apel, R McManus, P Ho, IN Bruce, AW Ryan, F Behrens, J Lascorz, B Böhm, H Traupe, J Lohmann, C Gieger, HE Wichmann, C Herold, M Steffens, L Klareskog, TF Wienker, O Fitzgerald, GM Alenius, NJ McHugh, G Novelli, H Burkhardt, A Barton, A Reis

TITLE:

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

JOURNAL:

Nature genetics Nov 2010, Vol 42, pp. 996-9

ABSTRACT:

Psoriatic arthritis (PsA) is an inflammatory joint disease that is distinct from other chronic arthritides and which is frequently accompanied by psoriasis vulgaris (PsV) and seronegativity for rheumatoid factor. We conducted a genome-wide association study in 609 German individuals with PsA (cases) and 990 controls with replication in 6 European cohorts including a total of 5,488 individuals. We replicated PsA associations at HLA-C and IL12B and identified a new association at TRAF3IP2 (rs13190932, P = 8.56 × 10⁻¹⁷). TRAF3IP2 was also associated with PsV in a German cohort including 2,040 individuals (rs13190932, P = 1.95 × 10⁻³). Sequencing of the exons of TRAF3IP2 identified a coding variant (p.Asp10Asn, rs33980500) as the most significantly associated SNP (P = 1.13 × 10⁻²⁰, odds ratio = 1.95). Functional assays showed reduced binding of this TRAF3IP2 variant to TRAF6, suggesting altered modulation of immunoregulatory signals through altered TRAF interactions as a new and shared pathway for PsA and PsV. PUBMED: 20953186
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