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dc.contributor.author | Rodríguez Fontenla, María Cristina |
dc.contributor.author | Carr, Andrew |
dc.contributor.author | Gómez-Reino Carnota, Juan Jesús |
dc.contributor.author | Tsezou, Aspasia |
dc.contributor.author | Loughlin, John |
dc.contributor.author | González Martínez-Pedrayo, Antonio |
dc.date.accessioned | 2020-04-20T15:45:26Z |
dc.date.available | 2020-04-20T15:45:26Z |
dc.date.issued | 2012 |
dc.identifier.citation | Rodriguez-Fontenla, C., Carr, A., Gomez-Reino, J.J. et al. Association of a BMP5 microsatellite with knee osteoarthritis: case-control study. Arthritis Res Ther 14, R257 (2012). https://doi.org/10.1186/ar4102 |
dc.identifier.issn | 1478-6354 |
dc.identifier.uri | http://hdl.handle.net/10347/21560 |
dc.description.abstract | Introduction: We aimed to explore the involvement of a multiallelic functional polymorphism in knee osteoarthritis (OA) susceptibility as a prototype of possible genetic factors escaping GWAS detection. Methods: OA patients and controls from three European populations (Greece, Spain and the UK) adding up to 1003 patients (716 women, 287 men) that had undergone total knee joint replacement (TKR) due to severe primary OA and 1543 controls (758 women, 785 men) lacking clinical signs or symptoms of OA were genotyped for the D6S1276 microsatellite in intron 1 of BMP5. Genotype and mutiallelic trend tests were used to compare cases and controls. Results: Significant association was found between the microsatellite and knee OA in women (P from 3.1 x10-4 to 4.1 x10-4 depending on the test), but not in men. Three of the alleles showed significant differences between patients and controls, one of them of increased risk and two of protection. The gender association and the allele direction of change were very concordant with those previously reported for hip OA. Conclusions: We have found association of knee OA in women with the D6S1276 functional microsatellite that modifies in cis the expression of BMP5 making this a sounder OA genetic factor and extending its involvement to other joints. This result also shows the interest of analysing other multiallelic polymorphisms. |
dc.description.sponsorship | C R-F has a pre-doctoral bursary from the Instituto de Salud Carlos III (Spain). The study was supported by grant PI09/01431 of the Instituto de Salud Carlos III that is partially financed by the European Regional Development Fund of the European Union, and by grants from the Xunta de Galicia |
dc.language.iso | eng |
dc.publisher | BMC |
dc.rights | © 2012 Rodriguez-Fontenla et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited |
dc.rights.uri | http://creativecommons.org/licenses/by/2.0 |
dc.title | Association of a BMP5 microsatellite with knee osteoarthritis: case-control study |
dc.type | journal article |
dc.identifier.doi | 10.1186/ar4102 |
dc.relation.publisherversion | https://doi.org/10.1186/ar4102 |
dc.type.hasVersion | VoR |
dc.identifier.essn | 1478-6362 |
dc.rights.accessRights | open access |
dc.contributor.affiliation | Universidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicina |
dc.description.peerreviewed | SI |
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© 2012 Rodriguez-Fontenla et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
© 2012 Rodriguez-Fontenla et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited