Genotyping analyses of lean body mass and hand grip strength-associated single nucleotide polymorphisms in master athletes

Physiology 2019 (Aberdeen, UK) (2019) Proc Physiol Soc 43, PC101

Poster Communications: Genotyping analyses of lean body mass and hand grip strength-associated single nucleotide polymorphisms in master athletes

H. Crossland1, D. McCormick1, J. Piasecki2, D. Wilkinson1, K. Smith1, J. McPhee3, M. Piasecki1, P. Atherton1

1. MRC-ARUK Centre for Musculoskeletal Ageing Research & NIHR Nottingham BRC, University of Nottingham, Derby, United Kingdom. 2. Musculoskeletal Physiology Research Group, Sport, Health and Performance Enhancement Research Centre, School of Science and Technology, Nottingham Trent University, Nottingham, United Kingdom. 3. Department of Sport and Exercise Sciences, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, United Kingdom.

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Recent genome-wide association studies (GWAS) have identified a number of candidate genetic loci associated with lean body mass (LBM) (Zillikens et al., 2017) and hand grip strength (HGS) (Willems et al., 2017). We aimed to determine whether these associations could be observed in a unique population of master athletes (both sprint and endurance), by assessing allele distributions of selected SNPs linked to LBM and HGS and evaluating potential links to physiological parameters. Genomic DNA was isolated from buffy coat samples of 48 master athletes (MA; 70.6 ± 5.9yrs; age-graded performance 83.4 ± 8.6%) and 48 older controls (75.3 ± 6.0yrs). The tetra-primer amplification refractory mutation system (ARMS) PCR technique (Ye et al., 2001), combined with agarose gel electrophoresis, was used to validate SNPs and genotype samples. Out of the 3 SNPs analysed that were previously associated with LBM (IRS1, FTO and ADAMTSL3), neither IRS1 nor FTO showed any differences in allelic distribution between MA and control or correlation with LBM, however for ADAMTSL3, there was a significant enrichment in the effect allele in the MA group (P<0.01 with Fisher’s exact test). Irrespective of groupings, there was also a significant association of genotype with %LBM (P<0.01 with one-way ANOVA). For the 3 HGS-linked SNPs analysed (GBF1, GLIS1 and TGFA), neither GBF1 nor GLIS1 showed any significant association with HGS in the samples analysed, or any differences in allelic distribution between MA and controls. While allele frequencies for the TGFA SNP were not significantly different between MA and controls, there was a significant association with HGS and genotype (P<0.05 with one-way ANOVA), and there was a significant enrichment in the effect allele in those individuals with the highest 25% versus the lowest 25% HGS (irrespective of groupings; P<0.05 with Fisher’s exact test). Out of the 6 SNPs analysed, 4 showed no difference in allele frequencies or associations with LBM or HGS (IRS1, FTO, GLIS1 or GBF1), however the SNPs linked to ADAMTSL3 and TGFA showed significant associations with LBM and HGS, respectively, as predicted by the GWAS analyses. The potential functional relevance of the ADAMTSL3 gene in lean mass regulation, and of TGFA in muscular strength, remains to be evaluated.



Where applicable, experiments conform with Society ethical requirements.

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