ANKH and susceptibility to and severity of ankylosing spondylitis

Pimentel-Santos, F. M., Ligeiro, D., Matos, M., Mourão, A. F., Vieira De Sousa, E., Pinto, P., Ribeiro, A., Santos, H., Barcelos, A., Godinho, F., Cruz, M., Fonseca, J. E., Guedes-Pinto, H., Trindade, H., Brown, Matthew A., Branco, J. C., De Matos, A. A., Ribeiro, C., Bravo Pimentão, J., Mateus, M., Nero, P., Araújo, P., Falcão, S., Pinto, T. L., Castelão, W., Caetano-Lopes, J., Silva, C., Simões, E., Madeira, H., Vaz Patto, J., Ferreira, J., Micaelo, M., Mediavilla, M. J., Sousa, M., Soares Branco, P., Canas Da Silva, J., Garcês, S., Tavares, V., Costa, J. A., Costa, L., Afonso, M. C., Bogas, M., Alcino, S., Silva, I., Ambrósio, C., Sequeira, G., Cravo, A. R., & Santos, R. A. (2012) ANKH and susceptibility to and severity of ankylosing spondylitis. Journal of Rheumatology, 39(1), pp. 131-134.

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Objective. 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).

Methods. Our study was conducted on 355 patients with AS and 95 ethnically matched healthy controls. AS was defined according to the modified New York criteria. Four SNP in ANKH (rs27356, rs26307, rs25957, and rs28006) were genotyped. Association analysis was performed using Cochrane-Armitage and linear regression tests for dichotomous and quantitative variables. Analyses of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), BASFI, and mSASSS were controlled for sex and disease duration.

Results. None of the 4 markers showed significant single-locus disease associations (p > 0.05), suggesting that ANKH was not a major determinant of AS susceptibility in our population. No association was observed between these SNP and age at symptom onset, BASDAI, BASFI, BASMI, or mSASSS.

Conclusion. These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to AS. ANKH polymorphisms do not markedly influence AS disease severity, as measured by BASMI and mSASSS. The Journal of Rheumatology

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4 citations in Web of Science®
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ID Code: 89332
Item Type: Journal Article
Refereed: Yes
Keywords: Ankylosing spondylitis, Genetic predisposition, Morbidity, corticosteroid, disease modifying antirheumatic drug, genomic DNA, nonsteroid antiinflammatory agent, tumor necrosis factor alpha inhibitor, adult, aged, ANKH gene, article, Bath Ankylosing Spondylitis Disease Activity Index, Bath Ankylosing Spondylitis Functional Index, Bath Ankylosing Spondylitis Metrology Index, cohort analysis, controlled study, disease classification, disease duration, disease severity, ethnic difference, European American, female, gene, gene locus, genetic analysis, genetic association, genetic susceptibility, genotype, human, major clinical study, male, modified Stoke Ankylosing Spondylitis Spine Score, molecular pathology, onset age, priority journal, scoring system, sex difference, single nucleotide polymorphism, Animals, Disease Susceptibility, European Continental Ancestry Group, Genetic Markers, Humans, Mice, Middle Aged, Phosphate Transport Proteins, Polymorphism, Single Nucleotide, Spondylitis, Ankylosing, Young Adult
DOI: 10.3899/jrheum.110681
ISSN: 0315-162X
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2012 Journal of Rheumatology Publishing Co. Ltd.
Deposited On: 20 Oct 2015 22:38
Last Modified: 24 Feb 2016 03:12

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