Bone Abstracts (2016) 5 P238 | DOI: 10.1530/boneabs.5.P238

Genetic variants at the Wnt/[beta]-catenin and oestrogen receptor signalling pathways are associated with low bone mineral density in dancers

Tânia Amorim1,2, Cecília Durães1, José Maia1, José Carlos Machado1, Luísa Nogueira3, Nuno Adubeiro3, Andreas D. Flouris4, George S. Metsios2,4, Franklim Marques1, Matthew Wyon2 & Yiannis Koutedakis2,4


1University of Porto, Porto, Portugal; 2University of Wolverhampton, Walsall, UK; 3Polytechnic Institute of Porto, Porto, Portugal; 4University of Thessaly, Trikala, Greece.


Purpose: Research suggests that dancers are at higher risk of developing low bone mineral density (BMD) compared with the general population. However, the associated factors contributing to low BMD in dancers are not fully understood. We aimed to assess the association of single-nucleotide polymorphisms (SNPs) in the Wnt/β-catenin and oestrogen receptor (ER) signalling pathways with low BMD in dancers.

Methods: A genetic association study was conducted in 151 female and male dancers and 151 controls matched for age and sex (18.2±10.8 years vs 18.2±10.7 years). Participants were stratified into different groups according to bone mass outcomes: low BMD (Z-score <−1.0 for adults and Z-score <−2.0 for adolescents) and normal BMD (Z-score ≥−1.0). Eleven SNPs of the Wnt/β-catenin (SOST: rs851054, rs851056, rs10534024, rs4792909, rs9902563; LRP5: rs3736228, rs2306862, rs682429, rs491347, rs3781590, rs2508836, rs643892, rs312786) and ER (ESR1: rs2234693, rs9340799; ESR2: rs1256030, rs960070) pathways were genotyped and evaluated for association with low BMD at the forearm, lumbar spine (LS) and femoral neck (FN). A false discovery rate correction was used to claim significance (P<0.02).

Results: Comparing controls with normal BMD and dancers with low BMD, ESR1 rs9340799 A allele significantly increased the odds of low BMD in dancers by 1.95-fold (95% CI=1.09–3.51, P=0.0204) at the forearm, 2.32-fold (95% CI=1.24–4.32, P=0.0059) at the LS, and 2.45-fold (95% CI=1.26–4.74, P=0.0052) at the FN. LRP5 rs2508836 C allele was also associated with an increased risk of low BMD in dancers at the LS (OR=6.90, 95% CI=1.27–37.49, P=0.009). Haplotype analysis revealed that the blocks GCGT and GCAG at the LRP5 gene significantly increased the odds for low BMD in dancers at the LS and forearm (OR=8.97, 95% CI=1.14–70.31, P=0.0368 and OR=6.43, 95% CI=1.33–31.14, P=0.0207).

Conclusion: Genetic variants at the Wnt/β-catenin and ER pathways are associated with low BMD in dancers.