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

Amorim, Tânia; Durães, Cecília; Machado, José Carlos; Metsios, George S.; Wyon, Matthew; Maia, José; Flouris, Andreas D.; Marques, António; Nogueira, Luísa; Adubeiro, Nuno; Koutedakis, Yiannis

doi:10.1007/s00198-018-4610-x

Cited by 11 publications

(9 citation statements)

References 51 publications

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“…Several genotypes including the estrogen receptor, ESR1 rs9340799 A allele, LRP5 rs2508836 C allele, and LRP5 GCGT/GCAG haplotypes have also been found to be associated with lower BMD at both nonimpact and impact sites in elite and pre-elite dancers. 39 Dancers with small nucleotide polymorphisms of the Wnt/ b-catenin signaling pathway and those with higher levels of circulating sclerostin (SOST gene) were also found to have lower BMD, irrespective of other risk factors for low BMD.…”

Section: Genetic Factorsmentioning

confidence: 99%

Management of Stress Fractures in Ballet

Jotwani

Aflatooni

Barter

et al. 2022

J Am Acad Orthop Surg

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Stress fractures are highly prevalent in ballet dancers and lead to notable time loss from dancing. Nutritional status, body composition, bone mineral density, and rate of increase in activity are among the components that influence risk for stress fractures. Proper evaluation and management of stress fractures is essential including a review of the causative factors involved in each stress injury. The purpose of this article was to summarize current evidence for risk factors involved in dancers' stress fractures to optimize prevention and treatment. Identified associated factors include low energy availability, low bone mineral density, low fat body composition, abnormal lower extremity biomechanics, genetic factors, and high training loads. Ballet dancers participate in rigorous training and conditioning to achieve seemingly effortless, powerful, aesthetic artistic movements. Caring for these performing artists requires attention to their unique injuries and the remarkable volume of activity undertaken in classes, rehearsals, and performances. Stress-related bone injuries are challenging for both dancers and professional companies because treatment often includes prolonged rest from participation. An understanding of the multifactorial, multisystem nature of these injuries is required to properly diagnose, treat, and prevent the spectrum of these injuries. This review summarizes the current best evidence in dance medicine epidemiology, risk factors, and evaluation and provides a stress fracture management and prevention protocol used in elite ballet. Epidemiology of Stress-related Bone Injury in BalletStress fractures may occur secondary to one of the three mechanisms: (1) abnormal stress on normal bone, (2) normal stress on abnormal bone, or (3) abnormal stress on abnormal bone. Ballet dancers may be especially susceptible to the latter. 1 Recent evidence has described a greater incidence of stress injuries in younger, female dancers. [2][3][4][5] In a systematic review by Smith et al, 2 amateur male and female dancers sustained 0.99 and 1.09 injuries for every 1,000 dance hours, respectively, whereas professional male and female dancers sustained a total of 1.06 and 1.46 injuries, respectively, during the same period. In professional female dancers, 64% of injuries were related to

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Section: Genetic Factorsmentioning

confidence: 99%

Management of Stress Fractures in Ballet

Jotwani

Aflatooni

Barter

et al. 2022

J Am Acad Orthop Surg

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“…Previous studies found that some of signaling pathways involved in the bone cell differentiation and apoptosis processes that affect bone metabolism and BMD. Such as "p53 Signaling" (Zhen et al, 2014;Liu W. et al, 2015), "AMPK Signaling" (Li et al, 2011), "RANK Signaling in Osteoclasts" (Yu et al, 2016), "Wnt/β-catenin Signaling" (Rossini et al, 2013), "Estrogen Receptor Signaling" (Amorim et al, 2018), etc. Moutsatsou et al (2012 reviewed the adverse effects of glucocorticoid receptor signaling pathway on osteocytes leading to OP.…”

Section: Pathway-level Analysismentioning

confidence: 99%

MicroRNA Alterations for Diagnosis, Prognosis, and Treatment of Osteoporosis: A Comprehensive Review and Computational Functional Survey

Zhang

et al. 2020

Front. Genet.

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Osteoporosis (OP) is a systemic bone disease with a series of clinical symptoms. The use of screening biomarkers in OP management is therefore of clinical significance, especially in the era of precision medicine and intelligent healthcare. MicroRNAs (miRNAs) are small, non-coding RNAs with the potential to regulate gene expression at the post-transcriptional level. Accumulating evidence indicates that miRNAs may serve as biomarkers for OP prediction and prevention. However, few studies have emphasized the role of miRNAs in systems-level pathogenesis during OP development. In this article, literature-reported OP miRNAs were manually collected and analyzed based on a systems biology paradigm. Functional enrichment studies were performed to decode the underlying mechanisms of miRNAs in OP etiology and therapeutics in three-dimensional space, i.e., integrated miRNA-gene-pathway analysis. In particular, interactions between miRNAs and three well-known OP pathways, i.e., estrogenendocrine, WNT/β-catenin signaling, and RANKL/RANK/OPG, were systematically investigated, and the effects of non-genetic factors on personalized OP prevention and therapy were discussed. This article is a comprehensive review of OP miRNAs, and bridges the gap between an understanding of OP pathogenesis and clinical translation.

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“…The potential consequence of a disadvantageous genotype has been demonstrated in dancers, who are also at risk of low BMD. Specifically, genetic variants in the oestrogen receptor and the Wnt/β-catenin pathways were associated with an increased prevalence of low BMD in elite dancers (Amorim et al 2018 ). Moreover, the increased prevalence of low BMD in the dancers was not predicted by previously suggested risk factors of body mass, menstrual disturbances and energy availability.…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, the increased prevalence of low BMD in the dancers was not predicted by previously suggested risk factors of body mass, menstrual disturbances and energy availability. Thus, low BMD in the absence of known risk factors further emphasises the potential modulation of the BMD phenotype via genetic characteristics (Amorim et al 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Bone mineral density in high-level endurance runners: Part B—genotype-dependent characteristics

et al. 2021

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Purpose Inter-individual variability in bone mineral density (BMD) exists within and between endurance runners and non-athletes, probably in part due to differing genetic profiles. Certainty is lacking, however, regarding which genetic variants may contribute to BMD in endurance runners and if specific genotypes are sensitive to environmental factors, such as mechanical loading via training. Method Ten single-nucleotide polymorphisms (SNPs) were identified from previous genome-wide and/or candidate gene association studies that have a functional effect on bone physiology. The aims of this study were to investigate (1) associations between genotype at those 10 SNPs and bone phenotypes in high-level endurance runners, and (2) interactions between genotype and athlete status on bone phenotypes. Results Female runners with P2RX7 rs3751143 AA genotype had 4% higher total-body BMD and 5% higher leg BMD than AC + CC genotypes. Male runners with WNT16 rs3801387 AA genotype had 14% lower lumbar spine BMD than AA genotype non-athletes, whilst AG + GG genotype runners also had 5% higher leg BMD than AG + GG genotype non-athletes. Conclusion We report novel associations between P2RX7 rs3751143 genotype and BMD in female runners, whilst differences in BMD between male runners and non-athletes with the same WNT16 rs3801387 genotype existed, highlighting a potential genetic interaction with factors common in endurance runners, such as high levels of mechanical loading. These findings contribute to our knowledge of the genetic associations with BMD and improve our understanding of why some runners have lower BMD than others.

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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

Abstract: 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).

Cited by 11 publications

References 51 publications

Management of Stress Fractures in Ballet

Management of Stress Fractures in Ballet

MicroRNA Alterations for Diagnosis, Prognosis, and Treatment of Osteoporosis: A Comprehensive Review and Computational Functional Survey

Bone mineral density in high-level endurance runners: Part B—genotype-dependent characteristics

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