Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.

OBJECTIVES: 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 Chi2 test 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). CONCLUSION: 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.

Descripción de una cohorte de pacientes de artritis idiopática juvenil en el estado de Sonora, México / Description of a cohort of patients with Juvenile Idiopathic Arthritis in the state of Sonora Mexico

IINTRODUCCIÓN: La artritis idiopática juvenil (AIJ) es una de las enfermedades crónicas degenerativas más frecuentes en la infancia, ocasionando secuelas importantes tal como la discapacidad, ceguera con un curso evolutivo, pronóstico y tratamiento distinto para todos los fenotipos. OBJETIVO: Conocer los subtipos clínicos más frecuentes de AIJ en el Servicio de Reumatología de un hospital, de segundo nivel de atención, del noroeste de México. MATERIALES Y MÉTODOS: Bajo un diseño tipo cohorte se estudiaron pacientes con AIJ del Servicio de Reumatología. La clasificación en subtipos de la enfermedad se realizó mediante los criterios clínicos y de laboratorio emitidos por la ILAR. Se midió la frecuencia de los subtipos de AIJ, así como la asociación de estos con variables sociodemográficas como edad y género. RESULTADOS: Se estudiaron 35 pacientes con AIJ dentro de los cuales predominó el género femenino con el 74% de los casos. El grupo de edad más afectado se observó en los pacientes entre 10 y 12 arios. Los subtipos de AIJ más frecuentes son la artritis asociada a entesitis (40%) y la AIJ poliarticular con factor reumatoide positivo (20%). Se encontró asociación significativa entre edad y género de los casos y género subtipo de AIJ. CONCLUSIONES: Los casos de AIJ se presentan a más temprana edad en el género masculino, al contrario los femeninos se presentan en mayores de 9 años, esto nos podría orientar en el abordaje diagnóstico de pacientes con patología articular.

INTRODUCTION: Juvenile idiopathic arthritis (JIA) is one of the most common childhood chronic degenerative diseases causing serious sequelae such as disability and blindness with clinical course, prognosis and treatment for all different phenotypes. OBJECTIVE: To determine the most common clinical subtypes of JIA in the rheumatology of a second level hospital care in northwestern Mexico. MATERIAL AND METHODS: Under a cohort design were studied patients with JIA in rheumatology service. The classification into subtypes of the disease was performed by clinical and laboratory criteria issued by the ILAR. The frequency of the subtypes of JIA, as well as the latter's association with sociodemographic variables such as age and gender was measured. RESULTS: From 35 patients with JIA predominance of female gender was 74% of the cases studied. The most affected age group was observed in patients between 10 and 12, most frequent subtypes was arthritis associated with enthesitis (40%) and poly articular JIA with positive rheumatoid factor (20%). Significant association between age and gender and gen-der cases and subtype of JIA found. CONCLUSIONS: JIA cases presented at an earlier age in the male gender, unlike girls in wich age presentation comes between 10 and 12 years.