RT Journal Article
T1 Association of a BMP5 microsatellite with knee osteoarthritis: case-control study
A1 Rodríguez Fontenla, María Cristina
A1 Carr, Andrew
A1 Gómez-Reino Carnota, Juan Jesús
A1 Tsezou, Aspasia
A1 Loughlin, John
A1 González Martínez-Pedrayo, Antonio
AB 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 to4.1 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.
PB BMC
SN 1478-6354
YR 2012
FD 2012
LK http://hdl.handle.net/10347/21560
UL http://hdl.handle.net/10347/21560
LA eng
NO 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
NO 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
DS Minerva
RD 22 abr 2026