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Article Dans Une Revue Journal of Rheumatology Année : 2009

Association of the X-Chromosomal Genes TIMP1 and IL9R with Rheumatoid Arthritis

Holger Kirsten
  • Fonction : Auteur
Sophie Garnier
Sandra Ruehle
  • Fonction : Auteur
Christian Oeser
  • Fonction : Auteur
Paola Migliorini
  • Fonction : Auteur
Alejandro Balsa
  • Fonction : Auteur
René Westhovens
Pilar Barrera
  • Fonction : Auteur
Helena Alves
  • Fonction : Auteur
Dora Pascual-Salcedo
  • Fonction : Auteur
Stefano Bombardieri
  • Fonction : Auteur
Jan Dequeker
  • Fonction : Auteur
Timothy R. Radstake
  • Fonction : Auteur
Piet van Riel
  • Fonction : Auteur
Leo van de Putte
  • Fonction : Auteur
Ulricke Buchegger-Podbielski
  • Fonction : Auteur
Frank Emmrich
  • Fonction : Auteur
Inga Melchers
  • Fonction : Auteur
Peter Ahnert
  • Fonction : Auteur

Résumé

Objective. Rheumatoid arthritis (RA) is an inflammatory joint disease with features of an autoimmune disease with female predominance. Candidate genes located on the X-chromosome were selected for a family trio-based association study. Methods.A total of 1452 individuals belonging to 3 different sample sets were genotyped for 16 single-nucleotide polymorphisms (SNP) in 7 genes. The first 2 sets consisted of 100 family trios, each of French Caucasian origin, and the third of 284 additional family trios of European Caucasian origin. Subgroups were analyzed according to sex of patient and presence of anti-cyclic citrullinated peptide (anti-CCP) autoantibodies. Results. Four SNP were associated with RA in the first sample set and were genotyped in the second set. In combined analysis of sets 1 and 2, evidence remained for association of 3 SNP in the genes UBA1, TIMP1, and IL9R. These were again genotyped in the third sample set. Two SNP were associated with RA in the joint analysis of all samples: rs6520278 (TIMP1) was associated with RA in general (p = 0.035) and rs3093457 (IL9R) with anti-CCP-positive RA patients (p = 0.037) and male RA patients (p = 0.010). A comparison of the results with data from whole-genome association studies further supports an association of RA with TIMP1. The sex-specific association of rs3093457 (IL9R) was supported by the observation that men homozygous for rs3093457-CC are at a significantly higher risk to develop RA than women (risk ratio male/female = 2.98; p = 0.048). Conclusion. We provide evidence for an association of at least 2 X-chromosomal genes with RA: TIMP1 (rs6520278) and IL9R (rs3093457). The Journal of Rheumatology Copyright © 2009. All rights reserved.

Dates et versions

hal-02084394 , version 1 (29-03-2019)

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Citer

Jana Burkhardt, Elisabeth Petit-Teixeira, Vitor Hugo Teixeira, Holger Kirsten, Sophie Garnier, et al.. Association of the X-Chromosomal Genes TIMP1 and IL9R with Rheumatoid Arthritis. Journal of Rheumatology, 2009, 36 (10), pp.2149--2157. ⟨10.3899/jrheum.090059⟩. ⟨hal-02084394⟩
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