Title |
ANKH and Susceptibility to and Severity of Ankylosing Spondylitis
|
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Published in |
Journal of Rheumatology, November 2011
|
DOI | 10.3899/jrheum.110681 |
Pubmed ID | |
Authors |
FERNANDO MANUEL PIMENTEL-SANTOS, DARIO LIGEIRO, MAFALDA MATOS, ANA FILIPA MOURÃO, ELSA VIEIRA de SOUSA, PATRICIA PINTO, ANA RIBEIRO, HELENA SANTOS, ANABELA BARCELOS, FATIMA GODINHO, MARGARIDA CRUZ, JOAO EURICO FONSECA, HENRIQUE GUEDES-PINTO, HELDER TRINDADE, MATTHEW A. BROWN, JAIME C. BRANCO, The CORPOREA Study Group |
Abstract |
Unconfirmed reports describe association of ankylosing spondylitis (AS) with several candidate genes including ANKH. Cellular export of inorganic pyrophosphate is regulated by the ANK protein, and mutant mice (ank/ank), which have a premature stop codon in the 3' end of the ank gene, develop severe ankylosis. We tested the association between single-nucleotide polymorphisms (SNP) in these genes and susceptibility to AS in a population of patients with AS. We investigated the role of these genes in terms of functional (BASFI) and metrological (BASMI) measures, and the association with radiological severity (mSASSS). |
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