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

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Limongi Franca Guilherme, Joao Paulo ^[1] ; Semenova, Ekaterina A. ^{[2, 3]} ; Zempo, Hirofumi ^[4] ; Martins, Gabriel L. ^[1] ; Lancha Junior, Antonio H. ^[1] ; Miyamoto-Mikami, Eri ^[5] ; Kumagai, Hiroshi ^{[5, 6]} ; Tobina, Takuro ^[7] ; Shiose, Keisuke ^[8] ; Kakigi, Ryo ^[9] ; Tsuzuki, Takamasa ^[10] ; Ichinoseki-Sekine, Noriko ^{[5, 11]} ; Kobayashi, Hiroyuki ^[12] ; Naito, Hisashi ^[5] ; Borisov, V, Oleg ; Kostryukova, Elena S. ^[13] ; Kulemin, Nikolay A. ^[13] ; Larin, Andrey K. ^[13] ; Generozov, V, Edward ; Fuku, Noriyuki ^[5] ; Ahmetov, Ildus I. ^{[14, 15, 16, 17]}

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^[1] Univ Sao Paulo, Sch Phys Educ & Sport, Lab Appl Nutr & Metab, Sao Paulo - Brazil

^[2] Kazan Fed Univ, Dept Biochem, Kazan - Russia

^[3] V, Fed Med Biol Agcy, Fed Res & Clin Ctr Phys Chem Med, Dept Mol Biol & Genet, Moscow - Russia

^[4] Tokyoseiei Coll, Fac Hlth & Nutr, Katsushika City, Tokyo - Japan

^[5] Juntendo Univ, Grad Sch Hlth & Sports Sci, Chiba - Japan

^[6] Japanese Soc Promot Sci, Tokyo - Japan

^[7] Univ Nagasaki, Fac Nursing & Nutr, Nagasaki - Japan

^[8] Univ Miyazaki, Fac Educ, Miyazaki - Japan

^[9] Juntendo Univ, Fac Med, Tokyo - Japan

^[10] Meijo Univ, Fac Pharm, Nagoya, Aichi - Japan

^[11] Open Univ Japan, Fac Liberal Arts, Chiba - Japan

^[12] Tsukuba Univ Hosp, Mito Med Ctr, Dept Gen Med, Tsukuba, Ibaraki - Japan

^[13] Borisov, Oleg, V, V, Fed Med Biol Agcy, Fed Res & Clin Ctr Phys Chem Med, Dept Mol Biol & Genet, Moscow - Russia

^[14] Liverpool John Moores Univ, Res Inst Sport & Exercise Sci, Liverpool, Merseyside - England

^[15] Kazan State Med Univ, Lab Mol Genet, Kazan - Russia

^[16] St Petersburg Res Inst Phys Culture, Sports Genet Lab, St Petersburg - Russia

^[17] Plekhanov Russian Univ Econ, Dept Phys Educ, Moscow - Russia

• Tipo de documento: Artigo Científico
• Fonte: INTERNATIONAL JOURNAL OF SPORTS PHYSIOLOGY AND PERFORMANCE; v. 16, n. 4, p. 489-495, APR 2021.
• Citações Web of Science: 1

Resumo

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. (AU)

• Processo FAPESP: 12/22516-6 - Perfil poligênico de atletas brasileiros: distribuição de polimorfismos associados ao desempenho físico
• Beneficiário: João Paulo Limongi França Guilherme
• Modalidade de apoio: Bolsas no Brasil - Doutorado