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Mitchell et al. Uncovering BMD genes in action from childhood through adulthood
DOI:10.1038/bonekey.2016.16
Mitchell et al. investigated genetic susceptibility loci linked with reduced bone mineral density (BMD) in adult life to detect associations with bone mass and density in childhood, and sought to discover whether these were impacted by sex or pubertal stage.
Using data from 603 European-ancestry children (54% of them female) within the Bone Mineral Density in Childhood Study, the group genotyped 77 single-nucleotide polymorphisms (SNPs) near interesting loci. Adjustments were made for age, physical activity, body mass index (BMI) and intake of dietary calcium.
Significant sex/SNP interactions were identified at 15 loci; pubertal stage/SNP interactions were demonstrated at 23 loci and 19 loci interacted with both sex and with the Tanner stage of puberty. Of the 77 SNPs, the strongest association for areal BMD at the distal radius was detected for a locus near to C7orf58. This association occurred in females only. Another notable association between total hip BMD and femoral neck BMD and the C12orf23 locus was also reported. This occurred only in females during the Tanner Stage 1.
In males, significant sex/SNP interactions were detected at loci near LRP5 (associated with total body less head bone mineral content) and near WNT16 for distal radius BMD. An additional interaction was noted at the LRP5 locus, with total hip BMD in males during Tanner Stage V.
Editor’s comment: It is important to know that variants originally associated with adult BMD seem start operating early in life. It is not surprising though that a large number of SNPs can be found associated with bone phenotypes only when sex and sex-hormone status are accounted for.
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