Bone Mineral Density Quantitative Trait Locus 4

For a discussion of genetic heterogeneity of bone mineral density (BMD), see BMND1 (601884).

Mapping

In a whole-genome linkage scan for bone mineral density variation, Shen et al. (2004) genotyped 1,816 individuals from 79 pedigrees with 451 microsatellite markers. The strongest linkage signal was obtained on Xq27 with 2-point lod scores of 4.30 (pointwise empirical p less than 0.0001) for wrist BMD and 2.57 for hip BMD. Shen et al. (2004) noted that 2 rare skeletal dysplasia syndromes had been mapped to the Xq27 region (see terminal osseous dysplasia (300244) and Christian syndrome (309620)), supporting the importance of the X chromosome for bone mass.