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Mitchell et al. Genetic variants influence BMD from childhood through into adulthood


Mitchell et al. used participants from the Bone Mineral Density in Childhood Study, a longitudinal study carried out over 7 annual visits, to investigate recently discovered variants associated with areal bone mineral density (aBMD) in adults. They asked whether the rare variants found near EN1 and the more common variants near SOX6 were also associated with aBMD and bone mineral content (BMC) in childhood.

The results, obtained from 685 male and 733 female children (all European ancestry), showed that a single nucleotide polymorphism (SNP) within a rare variant of EN1 was associated with higher aBMD at both the femoral neck and the hip, but only in female participants. The strongest association was found for total hip. A more common G allele of one SNP in SOX6 was also linked to a higher aBMD at the femoral neck and total hip but this association was stronger in males than females.

That genetic variation within both genes has an impact on aBMD in childhood suggests that these variants are important in determining fracture risk and the likelihood of developing osteoporosis later in life.

Editor’s comment: It is interesting that in sex-stratified analyses, the rare genetic variant near EN1 was associated with higher BMD in females only whereas the variant near the more common variant of SOX6 was strengthened in males. These sex differences need to be independently replicated in more powered sample(s).

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