Genetic variation in Wnt/β-catenin and ER signalling pathways in female and male elite dancers and its associations with low bone mineral density: a cross-section and longitudinal study

Osteoporos Int. 2018 Oct;29(10):2261-2274. doi: 10.1007/s00198-018-4610-x. Epub 2018 Jul 5.


The association of genetic polymorphisms with low bone mineral density in elite athletes have not been considered previously. The present study found that bone mass phenotypes in elite and pre-elite dancers are related to genetic variants at the Wnt/β-catenin and ER pathways.

Introduction: Some athletes (e.g. gymnasts, dancers, swimmers) are at increased risk for low bone mineral density (BMD) which, if untreated, can lead to osteoporosis. To investigate the association of genetic polymorphisms in the oestrogen receptor (ER) and the Wnt/β-catenin signalling pathways with low BMD in elite and pre-elite dancers (impact sport athletes).

Methods: The study included three phases: (1) 151 elite and pre-elite dancers were screened for the presence of low BMD and traditional osteoporosis risk factors (low body weight, menstrual disturbances, low energy availability); (2) a genetic association study was conducted in 151 elite and pre-elite dancers and age- and sex- controls; (3) serum sclerostin was measured in 101 pre-elite dancers and age- and sex-matched controls within a 3-year period.

Results: Eighty dancers revealed low BMD: 56.3% had at least one traditional osteoporosis risk factor, whereas 28.6% did not display any risk factor (37.2% revealed traditional osteoporosis risk factors, but had normal BMD). Body weight, menstrual disturbances and energy availability did not fully predict bone mass acquisition. Instead, genetic polymorphisms in the ER and Wnt/β-catenin pathways were found to be risk factors for low BMD in elite dancers. Sclerostin was significantly increased in dancers compared to controls during the 3-year follow-up (p < 0.05).

Conclusions: Elite and pre-elite dancers demonstrate high prevalence of low BMD, which is likely related to genetic variants at the Wnt/β-catenin and ER pathways and not to factors usually associated with BMD in athletes (body weight, menstrual disturbances, energy deficiency).

Keywords: Athletes; BMD; Impact sports; Sclerostin; Weight-bearing.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Anthropometry / methods
  • Bone Density / genetics*
  • Bone Density / physiology
  • Bone Morphogenetic Proteins / blood
  • Cross-Sectional Studies
  • Dancing / physiology*
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Longitudinal Studies
  • Male
  • Occupational Diseases / genetics
  • Occupational Diseases / physiopathology
  • Osteoporosis / genetics*
  • Osteoporosis / physiopathology
  • Polymorphism, Single Nucleotide*
  • Receptors, Estrogen / genetics
  • Risk Factors
  • Signal Transduction / genetics
  • Weight-Bearing / physiology
  • Wnt Signaling Pathway / genetics
  • Young Adult
  • beta Catenin / genetics


  • Adaptor Proteins, Signal Transducing
  • Bone Morphogenetic Proteins
  • Genetic Markers
  • Receptors, Estrogen
  • SOST protein, human
  • beta Catenin