ANKH and susceptibility to and severity of ankylosing spondylitis

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, A. A. De Matos, C. Ribeiro, J. Bravo Pimentão, M. Mateus & 28 others P. Nero, P. Araújo, S. Falcão, T. L. Pinto, W. Castelão, J. Caetano-Lopes, C. Silva, E. Simões, H. Madeira, J. Vaz Patto, J. Ferreira, M. Micaelo, M. J. Mediavilla, M. Sousa, P. Soares Branco, J. Canas Da Silva, S. Garcês, V. Tavares, J. A. Costa, L. Costa, M. C. Afonso, M. Bogas, S. Alcino, I. Silva, C. Ambrósio, G. Sequeira, A. R. Cravo, R. A. Santos

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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

Original languageEnglish
Pages (from-to)131-134
Number of pages4
JournalJournal of Rheumatology
Volume39
Issue number1
DOIs
Publication statusPublished - 1 Jan 2012

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Ankylosing Spondylitis
Single Nucleotide Polymorphism
Baths
Genes
Ankylosis
Nonsense Codon
Rheumatology
Age of Onset
Population
Linear Models

Keywords

  • Ankylosing spondylitis
  • Genetic predisposition
  • Morbidity

Cite this

Pimentel-Santos, Fernando Manuel ; Ligeiro, Dario ; Matos, Mafalda ; Mourão, Ana Filipa ; Vieira De Sousa, Elsa ; Pinto, Patricia ; Ribeiro, Ana ; Santos, Helena ; Barcelos, Anabela ; Godinho, Fatima ; Cruz, Margarida ; Fonseca, Joao Eurico ; Guedes-Pinto, Henrique ; Trindade, Helder ; Brown, Matthew A. ; Branco, Jaime 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. / ANKH and susceptibility to and severity of ankylosing spondylitis. In: Journal of Rheumatology. 2012 ; Vol. 39, No. 1. pp. 131-134.
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abstract = "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",
keywords = "Ankylosing spondylitis, Genetic predisposition, Morbidity",
author = "Pimentel-Santos, {Fernando Manuel} and Dario Ligeiro and Mafalda Matos and Mour{\~a}o, {Ana Filipa} and {Vieira De Sousa}, Elsa and Patricia Pinto and Ana Ribeiro and Helena Santos and Anabela Barcelos and Fatima Godinho and Margarida Cruz and Fonseca, {Joao Eurico} and Henrique Guedes-Pinto and Helder Trindade and Brown, {Matthew A.} and Branco, {Jaime C.} and {De Matos}, {A. A.} and C. Ribeiro and {Bravo Piment{\~a}o}, J. and M. Mateus and P. Nero and P. Ara{\'u}jo and S. Falc{\~a}o and Pinto, {T. L.} and W. Castel{\~a}o and J. Caetano-Lopes and C. Silva and E. Sim{\~o}es and H. Madeira and {Vaz Patto}, J. and J. Ferreira and M. Micaelo and Mediavilla, {M. J.} and M. Sousa and {Soares Branco}, P. and {Canas Da Silva}, J. and S. Garc{\^e}s and V. Tavares and Costa, {J. A.} and L. Costa and Afonso, {M. C.} and M. Bogas and S. Alcino and I. Silva and C. Ambr{\'o}sio and G. Sequeira and Cravo, {A. R.} and Santos, {R. A.}",
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Pimentel-Santos, FM, Ligeiro, D, Matos, M, Mourão, AF, Vieira De Sousa, E, Pinto, P, Ribeiro, A, Santos, H, Barcelos, A, Godinho, F, Cruz, M, Fonseca, JE, Guedes-Pinto, H, Trindade, H, Brown, MA, Branco, JC, De Matos, AA, Ribeiro, C, Bravo Pimentão, J, Mateus, M, Nero, P, Araújo, P, Falcão, S, Pinto, TL, Castelão, W, Caetano-Lopes, J, Silva, C, Simões, E, Madeira, H, Vaz Patto, J, Ferreira, J, Micaelo, M, Mediavilla, MJ, Sousa, M, Soares Branco, P, Canas Da Silva, J, Garcês, S, Tavares, V, Costa, JA, Costa, L, Afonso, MC, Bogas, M, Alcino, S, Silva, I, Ambrósio, C, Sequeira, G, Cravo, AR & Santos, RA 2012, 'ANKH and susceptibility to and severity of ankylosing spondylitis', Journal of Rheumatology, vol. 39, no. 1, pp. 131-134. https://doi.org/10.3899/jrheum.110681

ANKH and susceptibility to and severity of ankylosing spondylitis. / Pimentel-Santos, Fernando Manuel; Ligeiro, Dario; Matos, Mafalda; Mourão, Ana Filipa; Vieira De Sousa, Elsa; Pinto, Patricia; Ribeiro, Ana; Santos, Helena; Barcelos, Anabela; Godinho, Fatima; Cruz, Margarida; Fonseca, Joao Eurico; Guedes-Pinto, Henrique; Trindade, Helder; Brown, Matthew A.; Branco, Jaime 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.

In: Journal of Rheumatology, Vol. 39, No. 1, 01.01.2012, p. 131-134.

Research output: Contribution to journalArticle

TY - JOUR

T1 - ANKH and susceptibility to and severity of ankylosing spondylitis

AU - Pimentel-Santos, Fernando Manuel

AU - Ligeiro, Dario

AU - Matos, Mafalda

AU - Mourão, Ana Filipa

AU - Vieira De Sousa, Elsa

AU - Pinto, Patricia

AU - Ribeiro, Ana

AU - Santos, Helena

AU - Barcelos, Anabela

AU - Godinho, Fatima

AU - Cruz, Margarida

AU - Fonseca, Joao Eurico

AU - Guedes-Pinto, Henrique

AU - Trindade, Helder

AU - Brown, Matthew A.

AU - Branco, Jaime C.

AU - De Matos, A. A.

AU - Ribeiro, C.

AU - Bravo Pimentão, J.

AU - Mateus, M.

AU - Nero, P.

AU - Araújo, P.

AU - Falcão, S.

AU - Pinto, T. L.

AU - Castelão, W.

AU - Caetano-Lopes, J.

AU - Silva, C.

AU - Simões, E.

AU - Madeira, H.

AU - Vaz Patto, J.

AU - Ferreira, J.

AU - Micaelo, M.

AU - Mediavilla, M. J.

AU - Sousa, M.

AU - Soares Branco, P.

AU - Canas Da Silva, J.

AU - Garcês, S.

AU - Tavares, V.

AU - Costa, J. A.

AU - Costa, L.

AU - Afonso, M. C.

AU - Bogas, M.

AU - Alcino, S.

AU - Silva, I.

AU - Ambrósio, C.

AU - Sequeira, G.

AU - Cravo, A. R.

AU - Santos, R. A.

PY - 2012/1/1

Y1 - 2012/1/1

N2 - 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

AB - 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

KW - Ankylosing spondylitis

KW - Genetic predisposition

KW - Morbidity

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U2 - 10.3899/jrheum.110681

DO - 10.3899/jrheum.110681

M3 - Article

VL - 39

SP - 131

EP - 134

JO - Journal of Rheumatology

JF - Journal of Rheumatology

SN - 0315-162X

IS - 1

ER -