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Are Genome-Wide Association Study Identified Single-Nucleotide Polymorphisms Associated With Sprint Athletic Status? A Replication Study With 3 Different Cohorts

Guilherme, JPLF, Semenova, EA, Zempo, H, Martins, GL, Lancha Junior, AH, Miyamoto-Mikami, E, Kumagai, H, Tobina, T, Shiose, K, Kakigi, R, Tsuzuki, T, Ichinoseki-Sekine, N, Kobayashi, H, Naito, H, Borisov, OV, Kostryukova, ES, Kulemin, NA, Larin, AK, Generozov, EV, Fuku, N and Ahmetov, II (2021) Are Genome-Wide Association Study Identified Single-Nucleotide Polymorphisms Associated With Sprint Athletic Status? A Replication Study With 3 Different Cohorts. International Journal of Sports Physiology and Performance, 16 (4). pp. 489-495. ISSN 1555-0265

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Abstract

Purpose: To replicate previous genome-wide association study identified sprint-related polymorphisms in 3 different cohorts of top-level sprinters and to further validate the obtained results in functional studies. Methods: A total of 240 Japanese, 290 Russians, and 593 Brazilians were evaluated in a case-control approach. Of these, 267 were top-level sprint/power athletes. In addition, the relationship between selected polymorphisms and muscle fiber composition was evaluated in 203 Japanese and 287 Finnish individuals. Results: The G allele of the rs3213537 polymorphism was overrepresented in Japanese (odds ratio [OR]: 2.07, P = .024) and Russian (OR: 1.93, P = .027) sprinters compared with endurance athletes and was associated with an increased proportion of fast-twitch muscle fibers in Japanese (P = .02) and Finnish (P = .041) individuals. A meta-analysis of the data from 4 athlete cohorts confirmed that the presence of the G/G genotype rather than the G/A+A/A genotypes increased the OR of being a sprinter compared with controls (OR: 1.49, P = .01), endurance athletes (OR: 1.79, P = .001), or controls + endurance athletes (OR: 1.58, P = .002). Furthermore, male sprinters with the G/G genotype were found to have significantly faster personal times in the 100-m dash than those with G/A+A/A genotypes (10.50 [0.26] vs 10.76 [0.31], P = .014). Conclusion: The rs3213537 polymorphism found in the CPNE5 gene was identified as a highly replicable variant associated with sprinting ability and the increased proportion of fast-twitch muscle fibers, in which the homozygous genotype for the major allele (ie, the G/G genotype) is preferable for performance.

Item Type: Article
Additional Information: Accepted author manuscript version reprinted, by permission, from International Journal of Sports Physiology and Performance, 2021, 16(4): pp-pp, https://doi.org/10.1123/ijspp.2019-1032. © Human Kinetics, Inc.
Uncontrolled Keywords: 1106 Human Movement and Sports Sciences, 1116 Medical Physiology, 1701 Psychology
Subjects: R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions: Sport & Exercise Sciences
Publisher: Human Kinetics
Date Deposited: 29 Mar 2021 09:03
Last Modified: 29 Mar 2021 09:03
DOI or Identification number: 10.1123/ijspp.2019-1032
URI: https://researchonline.ljmu.ac.uk/id/eprint/14698

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