The Future of Genomic Research in Athletic Performance and Adaptation to Training

Wang, Guan; Tanaka, Masashi; Eynon, Nir; North, Klaus; Williams, Alun G.; Collins, Malcolm; Moran, Colin Neil; Britton, Steven L.; Fuku, Noriyuki; Ashley, Euan A.; Klissouras, Vassilis; Lucía, Alejandro; Ahmetov, Ildus I.; Geus, Eco J. C. de; Alsayrafi, Mohammed; Pitsiladis, Yannis

doi:10.1159/000445241

Cited by 40 publications

(61 citation statements)

References 21 publications

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“…However, we, and others, have reported large individual variability for the changes in BRMs and ucOC in response to similar exercise [9,6,7,10,8,11]. Indeed, some individuals are 'low-responders' (do not increase some aerobicrelated traits in response to exercise training), while others respond well or very well ('highresponders') to similar exercise, and this is, at least partly, likely due to genetic variability [12].…”

Section: Introductionmentioning

confidence: 65%

The influence of α-actinin-3 deficiency on bone remodelling markers in young men

Levinger

Yan

Bishop

et al. 2017

Bone

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There is a large individual variation in the bone remodelling markers (BRMs) osteocalcin (OC), procollagen 1 N-terminal propeptide (P1NP) and β-isomerized C-terminal telopeptide (β-CTx), as well as undercarboxylated osteocalcin (ucOC), at rest and in response to exercise. α-actinin-3 (ACTN3), a sarcomeric protein, is expressed in skeletal muscle and osteoblasts and may influence BRM levels and the cross-talk between muscle and bone. We tested the levels of serum BRMs in α-actinin-3 deficient humans (ACTN3 XX) at baseline, and following a single bout of exercise. Forty-three healthy Caucasian individuals were divided into three groups (ACTN3 XX, n=13; ACTN3 RX, n=16; ACTN3 RR, n=14). Participants completed a single session of High Intensity Interval Exercise (HIIE) on a cycle ergometer (8×2-min intervals at 85% of maximal power). Blood samples were taken before, immediately after, and three hours post exercise to identify the peak changes in serum BRMs. There was a stepwise increase in resting serum BRMs across the ACTN3 genotypes (XX>RX>RR) with significantly higher levels of tOC ~26%, P1NP ~34%, and β-CTX (~33%) in those with ACTN3 XX compared to ACTN3 RR. Following exercise BRMs and ucOC were higher in all three ACTN3 genotypes, with no significant differences between groups. Serum levels of tOC, P1NP and β-CTX are higher in men with ACTN3 XX genotype (α-actinin-3 deficiency) compared to RR and RX. It appears that the response of BRMs and ucOC to exercise is not explained by the ACTN3 genotype.

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Section: Introductionmentioning

confidence: 65%

The influence of α-actinin-3 deficiency on bone remodelling markers in young men

Levinger

Yan

Bishop

et al. 2017

Bone

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“…According to recent literature data we can assume that rare and extreme phenotypes of elite athletes are based on rare functional changes or mutations that arise and are selected fairly recently in the course of human history, as these SNPs or mutations were detected only in some global regions. This concept is quite close to the idea used to detect hereditary diseases caused by mutations in single or multiple genes [47].…”

Section: Regional Aspects Of Sports Medicinementioning

confidence: 82%

“…However, in recent years, along with that began to appear some attempts to use analysis of genome-wide Association (GWAS) [15,33,47].…”

Section: Regional Aspects Of Sports Medicinementioning

confidence: 99%

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2016

Journal of Diseases

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HAS ATHLETIC PERFORMANCE REACHED ITS PEAK?During the last two decades, sports medicine is increased and experienced a stage of rapid development, especially in such areas as the study of strength, endurance, sports injuries and psychology [1]. Athlete preparation, conditioning, including physical training, nutrition, and medicine, was affected by technological improvements and innovations in the twentieth century. In this connection, Fogel [2] coined the term "technophysiological evolution" to describe anthropometric gains of athletes' body. However, the most noticeable parameters affect the quality of sport, relate to biology, including genetics [3][4][5]: the physiological processes (especially time-dependent processes such as growth and aging [6][7][8] and environment [9,10] which can be either natural (e.g. ambient temperature, gas content, barometric pressure, winds, etc.) or artificial (human) based on the cultural [11] and technological [12] contexts.

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“…Since endurance sports are characterized by increased cardiorespiratory capacity, genetic predisposition into elite endurance performance is also expected to be genetically influenced (21). However, genetic studies of elite athletic endurance showed inconsistent results (10,(21)(22)(23). The aims of this study were to carry out the largest GWAS study of elite European athletes to date using a unique SNP microarray that is enriched with genes involved in different metabolic pathways with direct influence on various physiological pathways characteristic of elite athletes.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study reveals novel genetic markers associated with endurance athlete status

Al-Khelaifi¹,

Yousri²,

Semenova³

et al. 2019

Preprint

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Background: The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite athletes using GWAS approach, followed by a functional validation of significant SNPs by metabolomics analysis. Results: The association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athlete status was investigated in 753 European international-level athletes (594 males, 159 females) by comparing allelic frequencies between athletes specialized in sports with high (n=630) and low/moderate (n=123) aerobic component. Validation of results was performed by comparing the frequencies of the most significant SNPs between 176 elite Russian endurance athletes and 173 Russian controls or 43 sprinters. Two novel SNPs showed significant associations with endurance athlete status at Bonferroni level of significance (rs56330321 in ATP2B2, p=1.46E-7) and FDR level of significance (rs2635438 in SYNE1, p=2.54E-7), respectively. Replication study using Russian cohorts and a subsequent meta-analysis have confirmed the association of rs56330321 and rs2635438 SNPs with endurance athlete status at genome-wide significance (P= 5.13E-09 and 1.91E-08, respectively). Metabolomics analysis revealed several amino acids and lipids associated with the identified SNPs with potential roles in performance enhancement. Conclusions: This is the first report of GWAS significant SNPs and related metabolites associated with elite athlete status. Further investigations of the functional relevance of the identified SNPs and metabolites in relation to enhanced athletic performance are warranted.

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The Future of Genomic Research in Athletic Performance and Adaptation to Training

Cited by 40 publications

References 21 publications

The influence of α-actinin-3 deficiency on bone remodelling markers in young men

The influence of α-actinin-3 deficiency on bone remodelling markers in young men

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Genome-wide association study reveals novel genetic markers associated with endurance athlete status

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