Association of a BMP5 microsatellite with knee osteoarthritis: case-control studyReport as inadecuate

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Arthritis Research and Therapy

, 14:R257

First Online: 27 November 2012Received: 06 September 2012Revised: 19 November 2012Accepted: 22 November 2012


IntroductionWe 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.

MethodsOA 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.

ResultsSignificant association was found between the microsatellite and knee OA in women P from 3.1 x10 to 4.1 x10 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.

ConclusionsWe 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.

AbbreviationsBMP5bone morphogenetic protein 5

HWEHardy Weinberg equilibrium


LDlinkage disequilibrium


PCRpolymerase chain reaction

SNPsingle nucleotide polymorphism

THRtotal hip replacement

TKRtotal knee replacement

VNTRvariable number tandem repeat.

Electronic supplementary materialThe online version of this article doi:10.1186-ar4102 contains supplementary material, which is available to authorized users.

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Author: Cristina Rodriguez-Fontenla - Andrew Carr - Juan J Gomez-Reino - Aspasia Tsezou - John Loughlin - Antonio Gonzalez


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