Genes and human elite athletic performance

MacArthur, Daniel G.; North, Klaus

doi:10.1007/s00439-005-1261-8

Cited by 178 publications

(138 citation statements)

References 105 publications

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“…Also, genetic association studies must always be interpreted with caution. As with any statistical analysis, there is a non-trivial possibility of a false positive result [20].…”

Section: Discussionmentioning

confidence: 99%

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

et al. 2010

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Hypoxia-inducible factor 1 (HIF-1) is a transcription factor that regulates gene expression in response to hypoxia, and has been associated with athletic performance. The aims of this study were 1) to determine the frequency distribution of HIF1A Pro582Ser (rs11549465) polymorphism among 155 Israeli athletes (sprinters and endurance athletes) and 240 healthy controls and 2) to analyze the influence of the interaction between HIF1A Pro582Ser and ACTN3 R577X (rs1815739) genotypes on sprint performance. There were no differences across the HIF1A genotype and allele frequencies among endurance athletes, sprinters and controls. Similarly, no differences were found between the subgroups of top-level and national-level endurance athletes, or between top-level and national-level sprinters.Conversely, interaction effects were found between HIF1A Pro582Ser and ACTN3 R577X polymorphisms and sprinters. The proportion of HIF1A Pro/Pro + ACTN3 R/R genotypes was significantly higher in sprinters than in endurance athletes and healthy controls (P=0.002). In addition, the odds ratio for HIF1A Pro/Pro + ACTN3 R/R genotype carriers being a sprinter was 2.25 (95% confidence interval 1.24-4.1), and for HIF1A Pro/Pro + ACTN3 R/R genotype carriers being an endurance athlete was 0.5 (95% confidence interval 0.2-1.24). We conclude that HIF1A Pro582Ser polymorphism by itself is not critical in determining sprint performance. However, sprinter performance is determined by the interaction between the wild-type HIF1A Pro/Pro genotype and ACTN3 RR genotype.3

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“…Also, genetic association studies must always be interpreted with caution. As with any statistical analysis, there is a non-trivial possibility of a false positive result [20].…”

Section: Discussionmentioning

confidence: 99%

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

et al. 2010

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“…In fact, some studies are suggesting that genetics have a direct impact on athletic performance (Yang et al, 2003;MacArthur & North, 2005;Bray et al, 2009). For example, the ACTN3 gene -the fast-twitch muscle function gene that is found in leading sprinters -may help to predict if a person would be better in power/sprint or endurance sports.…”

Section: The Genetic Determinantsmentioning

confidence: 99%

Talent in sports. Some reflections about the search for future champions

Buekers

Borry

Rowe³

2014

Mov Sport Sci/Sci Mot

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Abstract. The goal of this paper is to look into the issue of talent identification in sports. Over the last decade researchers tried to get a better insight into how future elite athletes can be selected at young age. The findings reported in this review reveal that elite athletes originate from an optimal combination of intrinsic competences (e.g., physical, technical, psychological) and extrinsic, contextual factors (e.g., training, parents). The identification process that focuses on measuring intrinsic competences should be multidimensional in nature. Moreover, valid interpretations of the potential of the youngsters require longitudinal testing. Finally, the best talent detection program will be useless unless a high quality follow-up is guaranteed through well-designed training programmes in which coaches and PE-teachers play a crucial role. Therefore, the interaction and cooperation of coaches and scientists offer great opportunities to advance the knowledge in the area of talent identification. Key words: Talent detection, talent development, sportsRésumé. Talent dans le sport. Quelques réflexions sur la recherche de futurs champions.Le but de ce papier est de se pencher sur la question de l'identification de talent dans le domaine du sport. Au cours de la dernière décennie les chercheurs ont essayé d'obtenir un meilleur aperçu de la façon dont les futurs athlètes d'élite peuventêtre sélectionnés. Les résultats présentés dans cetté etude révèlent que les athlètes d'élite proviennent d'une combinaison optimale des compétences intrinsèques (par exemple, génétique, physique, technique, psychologique) et extrinsèque (les facteurs contextuels comme par exemple, l'entraînement, le coaching, le support des parents). Le processus d'identification qui se concentre sur la mesure des compétences intrinsèques doitêtre de nature multidimensionnelle. En outre, des interprétations valides du potentiel des jeunes exigent une approche longitudinale. Enfin, le meilleur programme de détection de talent sera inutile, sauf si une qualité de suivi est garantie grâceà des programmes de formation bien conçus dans lesquels les entraîneurs et les professeurs d'éducation physique jouent un rôle crucial. Par conséquent, l'interaction et la coopération des entraîneurs et des scientifiques sont essentielles pour faire progresser les connaissances dans le domaine de l'identification des talents.

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“…Participants were classified into three categories: (1) never participated in sports in any organized form (no exercise and exercise at the social level), (2) ever participated in sports at the school, club or university level, and (3) ever participated in sports at the county or national level. Women who ever participated in sports at the county or national level are thought to have been elite athletes (MacArthur & North, 2005).…”

Section: Phenotypingmentioning

confidence: 99%

“…Elite athletic performance is thought to be the result of the combination of a high genetic potential and the optimal environmental conditions, such as training and nutrition (MacArthur & North, 2005). It has long been recognized that physical performance is genetically determined (Bouchard & Malina, 1998), as evidenced by the significant heritabilities ranging from 31% to 85% for physical performance traits involving different aspects of cardiorespiratory fitness Bouchard et al, 1999;Perusse et al, 2001) and skeletomuscular strength and performance (De Mars et al, 2007;Thomis et al, 1998).…”

mentioning

confidence: 99%

Genome-Wide Linkage Scan for Athlete Status in 700 British Female DZ Twin Pairs

Moor¹,

et al. 2007

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Association studies, comparing elite athletes with sedentary controls, have reported a number of genes that may be related to athlete status. The present study reports the first genome wide linkage scan for athlete status. Subjects were 4488 adult female twins from the TwinsUK Adult Twin Registry (793 monozygotic [MZ] and 1000 dizygotic [DZ] complete twin pairs, and single twins). Athlete status was measured by asking the twins whether they had ever competed in sports and what was the highest level obtained. Twins who had competed at the county or national level were considered elite athletes. Using structural equation modeling in Mx, the heritability of athlete status was estimated at 66%. Seven hundred DZ twin pairs that were successfully genotyped for 1946 markers (736 microsatellites and 1210 SNPs) were included in the linkage analysis. Identical-by-descent probabilities were estimated in Merlin for a 1 cM grid, taking into account the linkage disequilibrium of correlated SNPs. The linkage scan was carried out in Mx using the-approach. Suggestive linkages were found on chromosomes 3q22-q24 and 4q31-q34. Both areas converge with findings from previous studies using exercise phenotypes. The peak on 3q22-q24 was found at the SLC9A9 gene. The region 4q31-q34 overlaps with the region for which suggestive linkages were found in two previous linkage studies for physical fitness (FABP2 gene; Bouchard et al., 2000) and physical activity (UCP1 gene; Simonen et al., 2003). Future association studies should further clarify the possible role of these genes in athlete status.

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Genes and human elite athletic performance

Cited by 178 publications

References 105 publications

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

Talent in sports. Some reflections about the search for future champions

Genome-Wide Linkage Scan for Athlete Status in 700 British Female DZ Twin Pairs

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