Genetic profile of elite endurance athletes

Semenova, Ekaterina A.; Fuku, Noriyuki; Ahmetov, Ildus I.

doi:10.1016/b978-0-12-816193-7.00004-x

Cited by 13 publications

(20 citation statements)

References 155 publications

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“…Since an insertion (I)/deletion (D) polymorphism in the angiotensin I-converting enzyme gene (ACE) was first reported in 1998 to have an impact on human physical performance 4) , numerous studies have attempted to identify genetic variants affecting sports performance. According to recent reviews, at least 100 genetic markers have been reported to be linked to the endurance of athletes 5) , and at least 69 genetic markers have been reported to be linked to the power of athletes 6) . It is commonly understood that sport performance is a polygenic phenotype, and therefore, multiple genetic variants are considered to have a complex effect on sports performance.…”

Section: Genetic Polymorphism Associated With Sports Performancementioning

confidence: 99%

Genetics and Genomics in Sports

Miyamoto‐Mikami

Fuku

2020

Juntendo Medical Journal

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Any individual can enhance his/her performance by engaging in deliberate practice and training during optimal periods of development. Nonetheless, the initial level of performance at first exposure to a sport varies greatly between individuals, as some individuals show a higher response to training than others. Furthermore, some athletes are repeatedly afflicted with injuries, but some athletes are not injured at all. Numerous twin and family studies have demonstrated that genetic factors contribute significantly to the variation in physical performance. Further, it has been demonstrated that several genetic variants significantly affect the susceptibility of sportsrelated injuries. Since an insertion (I)/deletion (D) polymorphism in the angiotensin I-converting enzyme gene (ACE) was first reported to have an impact on human physical performance, numerous studies have attempted to identify genetic variants influencing sports performance. To date, at least 100 genetic markers have been reported to be linked to the status of an athleteʼs endurance, and at least 69 genetic markers have been reported to be linked to the status of an athleteʼs power. Nevertheless, there is limited evidence of the genetic factors involved in sports performance and vulnerability to sport-related injuries in Asian populations. In order to perform genetic testing for individual training to improve sport performance and reduce injury risk, reliable and valid evidence is required, in addition to careful consideration of ethical issues. To achieve such individualized training in Japanese athletes, we need to develop a strong scientific foundation on this topic in the Asian population through large-scale collaborative projects.

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Section: Genetic Polymorphism Associated With Sports Performancementioning

confidence: 99%

Genetics and Genomics in Sports

Miyamoto‐Mikami

Fuku

2020

Juntendo Medical Journal

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“…More recently, Bray et al ( 6 ) reported more than 200 genetic variations potentially associated with physical performance phenotypes. Given the importance to optimize training and provide specific stimulus in athletes, the interest in knowing genetic information has grown importantly the last decades to improve individualization of the preparation ( 22 , 36 ).Sports genetics research has suffered a paradigm shift, and candidate gene approaches, usually with a limited number of genetic variants and small sample sizes, are being replaced by genome-wide association studies (GWAS) ( 36 ). This movement into the genomics era implies unbiased examinations of a genome-wide set of genetic variants in large and collaborative projects followed by validations and replications studies across sex and ethnicity ( 36 ).…”

Section: Introductionmentioning

confidence: 99%

“…Although replication of the results of the GAMES consortium projects is necessary to validate them, to the best knowledge of the authors, no further study has investigated the GALNTL6 gene in other populations of different ethnicity or gender. Considering that previous researches have shown that the same polymorphism can be associated with both endurance and power phenotypes ( ACTN3 , ACE, AGTR2, HIF1A, and PPARA ) ( 8 , 13 , 22 , 36 ), we investigated the association between GALNTL6 rs558129 polymorphism, power (anaerobic) performance in physically active men from the north of Spain (Basque Country), and power athlete status in Russians. For that end, Wingate anaerobic test (WAnT), a 30-second supramaximal cycling test has been used, because of the fact that it is a noninvasive, fast, and reliable way to measure maximal and mean power ( 30 ).…”

Section: Introductionmentioning

confidence: 99%

The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance

Ramirez

Álvarez‐Herms

Castañeda-Babarro

et al. 2020

Journal of Strength and Conditioning Research

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Díaz, J, Álvarez Herms, J, Castañeda, A, Larruskain, J, Ramírez de la Piscina, X, Borisov, OV, Semenova, EA, Kostryukova, ES, Kulemin, NA, Andryushchenko, ON, Larin, AK, Andryushchenko, LB, Generozov, EV, Ahmetov, II, and Odriozola, A. The GALNTL6 gene rs558129 polymorphism is associated with power performance. J Strength Cond Res 34(11): 3031–3036, 2020—The largest genome-wide association study to date in sports genomics showed that endurance athletes were 1.23 times more likely to possess the C allele of the single nucleotide polymorphism rs558129 of N-acetylgalactosaminyltransferase-like 6 gene ( GALNTL6 ), compared with controls. Nevertheless, no further study has investigated GALNTL6 gene in relation to physical performance. Considering that previous research has shown that the same polymorphism can be associated with both endurance and power phenotypes ( ACTN3, ACE , and PPARA ), we investigated the association between GALNTL6 rs558129 polymorphism and power performance. According to this objective we conducted 2 global studies regarding 2 different communities of athletes in Spain and Russia. The first study involved 85 Caucasian physically active men from the north of Spain to perform a Wingate anaerobic test (WAnT). In the second study we compared allelic frequencies between 173 Russian power athletes (49 strength and 124 speed-strength athletes), 169 endurance athletes, and 201 controls. We found that physically active men with the T allele of GALNTL6 rs558129 had 5.03–6.97% higher power values compared with those with the CC genotype ( p < 0.05). Consistent with these findings, we have shown that the T allele was over-represented in power athletes (37.0%) compared with endurance athletes (29.3%; OR = 1.4, p = 0.032) and controls (28.6%; OR = 1.5, p = 0.015). Furthermore, the highest frequency of the T allele was observed in strength athletes (43.9%; odds ratio [OR] = 1.9, p = 0.0067 compared with endurance athletes; OR = 2.0, p = 0.0036 compared with controls). In conclusion, our data suggest that the GALNTL6 rs558129 T allele can be favorable for anaerobic performance and strength athletes. In addition, we propose a new possible functional role of GALNTL6 rs558129, gut microbiome regarding short-chain fatty acid regulation and their anti-inflammatory and resynthesis functions. Nevertheless, further studies are required to understand the mechanisms involved.

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“…The scientific literature on exercise genomics has shown clear evidence that genetic markers are associated with endurance [1], power athlete status [2,3], trainability [4], and even psychological factors [5], and peroxisome proliferator activated receptors (PPARs) and/or their coactivators are often listed. While both sports performance and genomics are highly multifactorial domains, it is beneficial to summarize what phenotypic domains can be attributed to PPARs (and their coactivators) and where the analysis of phenotypic domains is redundant.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, muscle specific PPARβ/δ overexpression is considered to be a part of skeletal muscle plasticity. Therefore, the role of PPARs in elite aerobic performance is highly suspected [1,14].…”

Section: Introductionmentioning

confidence: 99%

Association of Elite Sports Status with Gene Variants of Peroxisome Proliferator Activated Receptors and Their Transcriptional Coactivator

Petr

Maciejewska-Skrendo

Zając

et al. 2019

IJMS

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Background: Although the scientific literature regarding sports genomics has grown during the last decade, some genes, such as peroxisome proliferator activated receptors (PPARs), have not been fully described in terms of their role in achieving extraordinary sports performance. Therefore, the purpose of this systematic review was to determine which elite sports performance constraints are positively influenced by PPARs and their coactivators. Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were used, with a combination of PPAR and sports keywords. Results: In total, 27 studies that referred to PPARs in elite athletes were included, where the Ala allele in PPARG rs1801282 was associated with strength and power elite athlete status in comparison to subelite athlete status. The C allele in PPARA rs4253778 was associated with soccer, and the G allele PPARA rs4253778 was associated with endurance elite athlete status. Other elite status endurance alleles were the Gly allele in PPARGC1A rs8192678 and the C allele PPARD rs2016520. Conclusions: PPARs can be used for estimating the potential to achieve elite status in human physical performance in strength and power, team, and aerobic sports disciplines. Carrying specific PPAR alleles can provide a partial benefit to achieving elite sports status, but does not preclude achieving elite status if they are absent.

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Genetic profile of elite endurance athletes

Cited by 13 publications

References 155 publications

Genetics and Genomics in Sports

Genetics and Genomics in Sports

The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance

Association of Elite Sports Status with Gene Variants of Peroxisome Proliferator Activated Receptors and Their Transcriptional Coactivator

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