title: ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians.
abstract: Skeletal muscle strength and mass, major contributors to sprint/power athletic performance, are influenced by genetics. However, to date, only a handful of genetic variants have been associated with sprint/power performance. The ACVR1B A allele (rs rs2854464) has previously been associated with increased muscle-strength in non-athletic cohort. However, no follow-up and/or replications studies have since been conducted. Therefore, the aim of the present study was to compare the genotype distribution of ACVR1B rs2854464 between endurance athletes (E), sprint/power (S/P) athletes, mixed athletes (M), and non-athletic control participants in 1672 athletes (endurance athletes, n = 482; sprint/power athletes, n = 578; mixed athletes, n = 498) and 1089 controls (C) of both European Caucasians (Italian, Polish and Russians) and Brazilians. We have also compared the genotype distribution according to the athlete's level of competition (elite vs. sub-elite). DNA extraction and genotyping were performed using various methods. Fisher's exact test (adjusted for multiple comparisons) was used to test whether the genotype distribution of rs2854464 (AA, AG and GG) differs between groups. The A allele was overrepresented in S/P athletes compared with C in the Caucasian sample (adjusted p = 0.048), whereas there were no differences in genotype distribution between E athletes and C, in neither the Brazilian nor the Caucasian samples (adjusted p > 0.05). When comparing all Caucasian athletes regardless of their sporting discipline to C, we found that the A allele was overrepresented in athletes compared to C (adjusted p = 0.024). This association was even more pronounced when only elite-level athletes were considered (adjusted p = 0.00017). In conclusion, in a relatively large cohort of athletes from Europe and South America we have shown that the ACVR1B rs2854464 A allele is associated with sprint/power performance in Caucasians but not in Brazilian athletes. This reinforces the notion that phenotype-genotype associations may be ethnicity-dependent.
authors.affiliation: INRA, UMR1198 Biologie du Développement et Reproduction, F-78350, Jouy-en-Josas, France.|Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia.
authors.forename: Sarah
authors.initials: S
authors.lastname: Voisin
authors.affiliation: School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: João Paulo F L
authors.initials: JP
authors.lastname: Guilherme
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia.
authors.forename: Xu
authors.initials: X
authors.lastname: Yan
authors.affiliation: Laboratory of Radiation Genetics, Urals Research Centre for Radiation Medicine of the Federal Medical-Biological Agency of Russia, Chelyabinsk, Russia.|Department of Radiation Biology, Chelyabinsk State University, Chelyabinsk, Russia.
authors.forename: Vladimir P
authors.initials: VP
authors.lastname: Pushkarev
authors.affiliation: Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk, Poland.|Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland.
authors.forename: Pawel
authors.initials: P
authors.lastname: Cieszczyk
authors.affiliation: Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Myosotis
authors.initials: M
authors.lastname: Massidda
authors.affiliation: Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Carla M
authors.initials: CM
authors.lastname: Calò
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia.
authors.forename: Dmitry A
authors.initials: DA
authors.lastname: Dyatlov
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia.
authors.forename: Vitaliy A
authors.initials: VA
authors.lastname: Kolupaev
authors.affiliation: South Ural State Medical University, Chelyabinsk, Russia.
authors.forename: Yuliya E
authors.initials: YE
authors.lastname: Pushkareva
authors.affiliation: Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Maciejewska
authors.affiliation: Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Sawczuk
authors.affiliation: School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Antonio H
authors.initials: AH
authors.lastname: Lancha
authors.affiliation: School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Guilherme G
authors.initials: GG
authors.lastname: Artioli
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia.
authors.forename: Nir
authors.identifier: http://orcid.org/0000-0003-4046-8276
authors.initials: N
authors.lastname: Eynon
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D056352:Athletes; D054874:Athletic Performance; D001938:Brazil; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D053580:Muscle Strength / Q000235:genetics*; D010807:Physical Endurance / Q000235:genetics*; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D012426:Russia; D013020:South America; D044465:White People
chemical_list: C498932:ACVR1B protein, human; D030201:Activin Receptors, Type I