Publicação

Tumor necrosis factor-α–308 genotypes influence inflammatory activity and TNF-α serum concentrations in children with juvenile idiopathic arthritis

Detalhes bibliográficos
Resumo:	OBJECTIVE: Considering the relevance of tumor necrosis factor-α (TNF-α) in the pathophysiology of juvenile idiopathic arthritis (JIA), it is likely that polymorphisms in its promoter area may be relevant in disease susceptibility and activity. We investigated if clinical measures of JIA activity and TNF-α serum concentrations were associated with TNF-α –308 genotypes. METHODS: Portuguese patients with JIA in 5 pediatric rheumatology centers were recruited consecutively, along with a control group of healthy subjects. Demographic and clinical data and blood samples were collected from each patient. DNA was extracted for analysis of TNF-α gene promoter polymorphisms at position –308 by restriction fragment-length polymorphism. RESULTS: One hundred fourteen patients and 117 controls were evaluated; 57% of patients presented the oligoarticular subtype, 25% the polyarticular subtype, 8% the systemic subtype, and 9% had enthesitis-related arthritis and 5% psoriatic arthritis. Twenty-four percent of the patients presented the –308 GA/AA genotypes and 76% the –308 GG genotype, similar to findings in controls. Patients with the –308 GA/AA genotype had higher degree of functional impairment, erythrocyte sedimentation rate, 100-mm visual analog scale score for disease activity, and TNF-α levels compared to those with the –308 GG genotype. CONCLUSION: TNF-α –308 GA/AA genotypes were found to be related to higher inflammatory activity and worse measures of disease activity in Portuguese patients with JIA. They were not associated with susceptibility to JIA.
Autores principais:	Mourão, Ana Filipa
Outros Autores:	Caetano-Lopes, Joana; Costa, Paula; Canhao, Helena; Santos, Maria José; Pinto, Patrícia; Brito, Iva; Nicola, Paulo; Cavaleiro, João; Teles, José; Sousa, Artur; Gomes, José Melo; Branco, Jaime; Costa, José Teixeira da; Pedro, João Gomes; Queiroz, Mário Viana de; Fonseca, João Eurico
Assunto:	Juvenile idiopathic arthritis −308 genotypes Tumor necrosis factor-α promoter polymorphisms Prognosis
Ano:	2009
País:	Portugal
Tipo de documento:	artigo
Tipo de acesso:	acesso restrito
Instituição associada:	Universidade de Lisboa
Idioma:	inglês
Origem:	Repositório da Universidade de Lisboa

Descrição
Resumo:	OBJECTIVE: Considering the relevance of tumor necrosis factor-α (TNF-α) in the pathophysiology of juvenile idiopathic arthritis (JIA), it is likely that polymorphisms in its promoter area may be relevant in disease susceptibility and activity. We investigated if clinical measures of JIA activity and TNF-α serum concentrations were associated with TNF-α –308 genotypes. METHODS: Portuguese patients with JIA in 5 pediatric rheumatology centers were recruited consecutively, along with a control group of healthy subjects. Demographic and clinical data and blood samples were collected from each patient. DNA was extracted for analysis of TNF-α gene promoter polymorphisms at position –308 by restriction fragment-length polymorphism. RESULTS: One hundred fourteen patients and 117 controls were evaluated; 57% of patients presented the oligoarticular subtype, 25% the polyarticular subtype, 8% the systemic subtype, and 9% had enthesitis-related arthritis and 5% psoriatic arthritis. Twenty-four percent of the patients presented the –308 GA/AA genotypes and 76% the –308 GG genotype, similar to findings in controls. Patients with the –308 GA/AA genotype had higher degree of functional impairment, erythrocyte sedimentation rate, 100-mm visual analog scale score for disease activity, and TNF-α levels compared to those with the –308 GG genotype. CONCLUSION: TNF-α –308 GA/AA genotypes were found to be related to higher inflammatory activity and worse measures of disease activity in Portuguese patients with JIA. They were not associated with susceptibility to JIA.