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1.
J Rheumatol ; 37(3): 628-32, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20156947

RESUMO

OBJECTIVE: The Visual Assessment of the Spine Bruckel Instrument (VASBI) is a new status tool developed by the Spondylitis Association of America and the University of Toronto to reflect spinal appearance in patients with ankylosing spondylitis (AS). Our objective was to validate the VASBI according to the Outcome Measures in Rheumatoid Arthritis Clinical Trials filter (truth, discrimination, and feasibility). METHODS: Three hundred patients with AS were asked to rate their degree of perceived spinal deformity using the VASBI. To evaluate construct validity, VASBI scores were compared with functional outcome, spinal mobility, and radiographic spinal damage. Test-retest reliability was evaluated using kappa statistic (kappa). RESULTS: Patient VASBI demonstrated strong correlation with spinal mobility (r = 0.543) and moderate correlation with functional impairment (r = 0.490) and structural damage (r = 0.309). Reliability for VASBI was very good (kappa = 0.973, p < 0.001). CONCLUSION: The VASBI is a novel tool with practical applications in a busy clinical setting as it simplifies assessment of AS spinal deformity. Our study demonstrates that the VASBI has good feasibility, construct validity, and reliability.


Assuntos
Técnicas e Procedimentos Diagnósticos , Índice de Gravidade de Doença , Coluna Vertebral/patologia , Espondilite Anquilosante/patologia , Adulto , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Postura , Amplitude de Movimento Articular/fisiologia , Reprodutibilidade dos Testes , Coluna Vertebral/fisiopatologia , Reino Unido
2.
Nat Genet ; 42(2): 123-7, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20062062

RESUMO

To identify susceptibility loci for ankylosing spondylitis, we undertook a genome-wide association study in 2,053 unrelated ankylosing spondylitis cases among people of European descent and 5,140 ethnically matched controls, with replication in an independent cohort of 898 ankylosing spondylitis cases and 1,518 controls. Cases were genotyped with Illumina HumHap370 genotyping chips. In addition to strong association with the major histocompatibility complex (MHC; P < 10(-800)), we found association with SNPs in two gene deserts at 2p15 (rs10865331; combined P = 1.9 x 10(-19)) and 21q22 (rs2242944; P = 8.3 x 10(-20)), as well as in the genes ANTXR2 (rs4333130; P = 9.3 x 10(-8)) and IL1R2 (rs2310173; P = 4.8 x 10(-7)). We also replicated previously reported associations at IL23R (rs11209026; P = 9.1 x 10(-14)) and ERAP1 (rs27434; P = 5.3 x 10(-12)). This study reports four genetic loci associated with ankylosing spondylitis risk and identifies a major role for the interleukin (IL)-23 and IL-1 cytokine pathways in disease susceptibility.


Assuntos
Loci Gênicos/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Complexo Principal de Histocompatibilidade/genética , Espondilite Anquilosante/genética , Estudos de Coortes , Humanos , Polimorfismo de Nucleotídeo Único/genética , Reprodutibilidade dos Testes
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