摘要
Objective: Numerous single nucleotide polymorphisms (SNPs) have been associated with JIA, but fewof these studies were replicated. We conducted a candidate-gene approach study to assess if some SNPscould be related to clinical subtypes or other clinical features of the juvenile idiopathic arthritis (JIA) suchas 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. Weretrospectively included 104 JIA patients, fulfilling the ILAR classification criteria. Association betweenSNPs and JIA clinical subtypes, the presence of ANA, risk of uveitis and age at onset was evaluated usinga Chi(2)test or a Fischer test. Results: No associations between different clinical subtypes as well as presence of ANA and the 6 SNPswere found. However, the AA genotype of TRAF1-C5 appeared associated in a subgroup of patients withuveitis 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 patientspresenting uveitis, compared to patients without uveitis and without ANA (P < 0.05). Conclusion: TRAF1-C5 genotype could identify JIA patients with a risk to develop uveitis especially in oligoand polyarticular forms and among ANA-positive children. Given the moderate size of our cohort, thisassociation has to be confirmed in other studies.
- 出版日期2017-5