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The aims of the study were to establish the prevalence of high bone mass (HBM) in a cohort of Spanish postmenopausal women (BARCOS) and to assess the contribution of  LRP5  and  DKK1  mutations and of common bone mineral density (BMD) variants to a HBM phenotype. Furthermore, we describe the expression of several osteoblast-specific and Wnt-pathway genes in primary osteoblasts from two HBM cases. A 0.6% of individuals (10/1600) displayed Z-scores in the HBM range (sum Z-score >4). While no mutation in the relevant exons of  LRP5  was detected, a rare missense change in  DKK1  was found (p.Y74F), which cosegregated with the phenotype in a small pedigree. Fifty-five BMD SNPs from Estrada  et al.  [NatGenet 44:491-501,2012] were genotyped in the HBM cases to obtain risk scores for each individual. In this small group of samples, Z-scores were found inversely related to risk scores, suggestive of a polygenic etiology. There was a single exception, which may be explained by a rare penetrant genetic variant, counterbalancing the additive effect of the risk alleles. The expression analysis in primary osteoblasts from two HBM cases and five controls suggested that  IL6R ,  DLX3 ,  TWIST1  and  PPARG  are negatively related to Z-score. One HBM case presented with high levels of  RUNX2 , while the other displayed very low  SOX6 . In conclusion, we provide evidence of lack of  LRP5  mutations and of a putative HBM-causing mutation in  DKK1 . Additionally, we present SNP genotyping and expression results that suggest additive effects of several genes for HBM.

Genetic Analysis of High Bone Mass Cases from the BARCOS Cohort of Spanish Postmenopausal Women