title: Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.
abstract: OBJECTIVE
  Numerous single nucleotide polymorphisms (SNPs) have been associated with JIA, but few of these studies were replicated. We conducted a candidate-gene approach study to assess if some SNPs could be related to clinical subtypes or other clinical features of the juvenile idiopathic arthritis (JIA) such as the risk of uveitis, ANA positivity and the age at onset.
  
  
  METHODS
  SNPs in six genes were analysed: PTPN22, STAT4, TRAF1-C5, TGFbeta, TNFAIP3, and C12orf30. We retrospectively included 104 JIA patients, fulfilling the ILAR classification criteria. Association between SNPs and JIA clinical subtypes, the presence of ANA, risk of uveitis and age at onset was evaluated using a Chi2test or a Fischer test.
  
  
  RESULTS
  No associations between different clinical subtypes as well as presence of ANA and the 6 SNPs were found. However, the AA genotype of TRAF1-C5 appeared associated in a subgroup of patients with uveitis in oligoarticular and polyarticular forms [OR 3.77 (95% CI: 1.1067, 12.8527); P=0.066]. Furthermore, AA TRAF1-C5 was significantly more frequent in antinuclear antibodies (ANA) positive patients presenting uveitis, compared to patients without uveitis and without ANA (P<0.05).
  
  
  CONCLUSIONS
  TRAF1-C5 genotype could identify JIA patients with a risk to develop uveitis especially in oligo and polyarticular forms and among ANA-positive children. Given the moderate size of our cohort, this association has to be confirmed in other studies.
authors.affiliation: Unité clinique d'immunorhumatologie : thérapeutique des maladies articulaires et osseuses, CHRU Lapeyronie, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier, France; Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: ympers2000@yahoo.fr.
authors.forename: Yves-Marie
authors.initials: YM
authors.lastname: Pers
authors.affiliation: Unité clinique d'immunorhumatologie : thérapeutique des maladies articulaires et osseuses, CHRU Lapeyronie, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier, France; Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Le Blay
authors.affiliation: Unité d'immunorhumatologie pédiatrique, CHRU Arnaud-de-Villeneuve, 34295 Montpellier, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Ludwig
authors.affiliation: Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Unité médicale des maladies auto-inflammatoires (Centre de référence), laboratoire de génétique, CHRU Arnaud-de-Villeneuve, 34295 Montpellier, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Rittore
authors.affiliation: Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Unité médicale des maladies auto-inflammatoires (Centre de référence), laboratoire de génétique, CHRU Arnaud-de-Villeneuve, 34295 Montpellier, France.
authors.forename: Gautier
authors.initials: G
authors.lastname: Tejedor
authors.affiliation: Clinical Research and Epidemiology Department, La Colombière University Hospital, 34295 Montpellier, France.
authors.forename: Randy
authors.initials: R
authors.lastname: Foliwe
authors.affiliation: Unité d'immunorhumatologie pédiatrique, CHRU Arnaud-de-Villeneuve, 34295 Montpellier, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Rodiere
authors.affiliation: Unité clinique d'immunorhumatologie : thérapeutique des maladies articulaires et osseuses, CHRU Lapeyronie, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier, France; Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; University of Montpellier, boulevard Henri IV, 34090 Montpellier, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Jorgensen
authors.affiliation: Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Unité médicale des maladies auto-inflammatoires (Centre de référence), laboratoire de génétique, CHRU Arnaud-de-Villeneuve, 34295 Montpellier, France; University of Montpellier, boulevard Henri IV, 34090 Montpellier, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
mesh_terms: D017668:Age of Onset; D001171:Arthritis, Juvenile / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003182:Complement C5 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics*; D014605:Uveitis / Q000235:genetics*
chemical_list: D003182:Complement C5; D047990:TNF Receptor-Associated Factor 1
keywords: Antinuclear antibodies; ILAR classification; Juvenile idiopathic arthritis; Single nucleotide polymorphisms; TRAF1-C5; Uveitis