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

Herbert, Adam J. and Williams, A G and Lockey, S J and Erskine, R M and Sale, C and Hennis, P J and 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 1439-6327

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Abstract

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: Article
Identification Number: https://doi.org/10.1007/s00421-021-04789-z
Date: 22 September 2021
Uncontrolled Keywords: Genetics · Single-nucleotide polymorphisms · Bone mineral density · Endurance · Marathon · Mechanical loading
Subjects: CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-01 - biosciences (non-specific)
CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-07 - genetics
CAH03 - biological and sport sciences > CAH03-02 - sport and exercise sciences > CAH03-02-01 - sport and exercise sciences
Divisions: Faculty of Health, Education and Life Sciences > Centre for Life and Sport Sciences (C-LASS)
Depositing User: Adam Herbert
Date Deposited: 27 Sep 2021 08:56
Last Modified: 27 Sep 2021 08:56
URI: http://www.open-access.bcu.ac.uk/id/eprint/12205

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