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.

Hüffmeier, U., Uebe, S., Ekici, A., Bowes, J., Giardina, E., Korendowych, E., et al. (2010). Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. NATURE GENETICS, 42(11), 996-999 [10.1038/ng.688].

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

GIARDINA, EMILIANO;NOVELLI, GIUSEPPE;
2010-11-01

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.
nov-2010
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - GENETICA MEDICA
English
Con Impact Factor ISI
psoriasis; chromosomes, human, pair 6; diseases in twins; twins, monozygotic; polymorphism, single nucleotide; dna replication; tumor necrosis factor receptor-associated peptides and proteins; arthritis, psoriatic; interleukins; genotype; genetic predisposition to disease; humans
Hüffmeier, U., Uebe, S., Ekici, A., Bowes, J., Giardina, E., Korendowych, E., et al. (2010). Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. NATURE GENETICS, 42(11), 996-999 [10.1038/ng.688].
Hüffmeier, U; Uebe, S; Ekici, A; Bowes, J; Giardina, E; Korendowych, E; Juneblad, K; Apel, M; Mcmanus, R; Ho, P; Bruce, I; Ryan, A; Behrens, F; Lascorz, J; Böhm, B; Traupe, H; Lohmann, J; Gieger, C; Wichmann, H; Herold, C; Steffens, M; Klareskog, L; Wienker, T; Fitzgerald, O; Alenius, G; Mchugh, N; Novelli, G; Burkhardt, H; Barton, A; Reis, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/10698
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