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Muscle gene variants impact on fracture risk due to osteoporosis

DOI:10.1038/bonekey.2013.78

Harsløf et al. studied the relationship between nine variant alleles in four muscle genes to determine their impact on fracture risk. They used two independent Danish cohorts, which comprised 2,016 perimenopausal women and 783 young men (age 20–29). The genes chosen were myostatin, ACVR2B (the myostatin receptor gene), myoD1 and myogenin.

One single nucleotide polymorphism (SNP) rs7570532, a variant allele of myostatin, was associated with an increase in the risk of osteoporotic fracture at any site (hazard ratio [HR] 1.82 [95% confidence interval (CI) 1.15–2.90]) and also increased the likelihood of osteoporotic non-vertebral fracture (HR 2.02 [95% CI 1.20–3.41]).

Possession of SNP rs7570532 was also associated with a greater degree of bone loss at the total hip, with homozygotes showing 4.1 times the bone loss seen in controls (P=0.006). Over a 10-year period there was also a trend towards reduced bone growth at the total hip (P=0.01) and greater loss of total hip bone mineral density (P=0.08). No association between any of the gene variants and bone phenotypes was apparent in the cohort of young men.

Editor’s comment: This study’s most important finding was that variants in the myostatin gene have an impact on bone loss and increase the risk of osteoporotic fractures in perimenopausal women. Interestingly, this polymorphism was not associated with muscle (lean) mass, suggesting a direct effect on fracture risk.

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