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TNF Receptor-Associated Factor 5 ( TRAF5 ) has been shown to be associated with autoimmune disease. The current study sought to investigate the potential association of  TRAF5  with acute anterior uveitis (AAU) and pediatric uveitis in Han Chinese.    Methods  Three  TRAF5  SNPs were analyzed in 450 AAU patients with or without ankylosing spondylitis (AS), 458 pediatric uveitis patients, and 1,601 healthy controls by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or TaqMan SNP Genotyping Assay. Numerous variables were evaluated, including age, sex distribution, and clinical and laboratory observations.    Results  Two SNPs (rs6540679, rs12569232) of  TRAF5  were associated with pediatric uveitis, and rs12569232 also showed a relation with the presence of microvascular leakage. No significant associations were found when patients were subdivided according to their rheumatoid factor (RF) or anti-nuclear antibody (ANA) status or whether they had juvenile idiopathic arthritis (JIA). Rs12569232 predisposed to AAU and its subgroups (with ankylosing spondylitis (AS) or HLA-B27 positive). No association was found between rs10863888 and either pediatric uveitis or AAU.    Conclusion  This study revealed that  TRAF5  is involved in the development of AAU and pediatric uveitis. Further stratified analysis according to the clinical and laboratory observations suggested that rs12569232/ TRAF5  may play a role in the development of retinal vasculitis.

TNF receptor-associated factor 5 gene confers genetic predisposition to acute anterior uveitis and pediatric uveitis