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Background  In a previous study carried out by our group, the genotyping of 36 microsatellite markers from within a narrow interval of chromosome 6p12.3-q13 generated evidence for linkage and for association to female hip osteoarthritis (OA), with the most compelling association found for a marker within intron 1 of the bone morphogenetic protein 5 gene ( BMP5 ). In this study, we aimed to further categorize the association of variants within intron 1 of  BMP5  with OA through an expanded genetic association study of the intron and subsequent functional analysis of associated polymorphisms.    Methods  We genotyped 18 common polymorphisms including 8 microsatellites and 9 single nucleotide polymorphisms (SNPs) and 1 insertion/deletion (INDEL) from within highly conserved regions between human and mouse within intron 1 of  BMP5 . These markers were then tested for association to OA by a two-stage approach in which the polymorphisms were initially genotyped in a case-control cohort comprising 361 individuals with associated polymorphisms ( P  ≤ 0.05) then genotyped in a second case-control cohort comprising 1185 individuals.    Results  Two  BMP5  intron 1 polymorphisms demonstrated association in the combined case-control cohort of 1546 individuals (765 cases and 781 controls): microsatellite D6S1276 ( P  = 0.018) and SNP rs921126 ( P  = 0.013). Functional analyses in osteoblastic, chondrocytic, and adipocytic cell lines indicated that allelic variants of D6S1276 have significant effects on the transcriptional activity of the  BMP5  promoter  in vitro .    Conclusion  Variability in gene expression of  BMP5  may be an important contributor to OA genetic susceptibility.

Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis