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

Herbert, A.J., Williams, A.G., Lockey, S.J., Erskine, R.M., Sale, C. ORCID: 0000-0002-5816-4169, Hennis, P.J. ORCID: 0000-0002-8216-998X, Day, S.H. and Stebbings, G.K., 2021. Bone mineral density in high-level endurance runners: part B—genotype-dependent characteristics. European Journal of Applied Physiology. ISSN 1439-6319

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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.

Item Type: Journal article
Publication Title: European Journal of Applied Physiology
Creators: Herbert, A.J., Williams, A.G., Lockey, S.J., Erskine, R.M., Sale, C., Hennis, P.J., Day, S.H. and Stebbings, G.K.
Publisher: Springer Science and Business Media LLC
Date: 22 September 2021
ISSN: 1439-6319
Rights: © The Author(s) 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit
Divisions: Schools > School of Science and Technology
Record created by: Laura Ward
Date Added: 06 Oct 2021 10:29
Last Modified: 06 Oct 2021 10:29

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