Herbert_et_al_2021_2.pdf (705.21 kB)
Bone mineral density in high-level endurance runners: Part B—genotype-dependent characteristics
journal contribution
posted on 2023-07-26, 15:44 authored by Adam J. Herbert, Alun G. Williams, Sarah J. Lockey, Robert M. Erskine, Craig Sale, Philip J. Hennis, Stephen H. Day, Georgina K. StebbingsPurpose-
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.
History
Refereed
- Yes
Volume
122Issue number
1Page range
71-80Publication title
European Journal of Applied PhysiologyISSN
1439-6327External DOI
Publisher
SpringerFile version
- Published version
Language
- eng
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Legacy posted date
2022-03-18Legacy creation date
2022-03-18Legacy Faculty/School/Department
Faculty of Health, Education, Medicine & Social CareUsage metrics
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