ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians
Identifieur interne : 000C04 ( Pmc/Checkpoint ); précédent : 000C03; suivant : 000C05ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians
Auteurs : Sarah Voisin [France, Australie] ; João Paulo F. L. Guilherme [Brésil] ; Xu Yan [Australie] ; Vladimir P. Pushkarev [Russie] ; Pawel Cieszczyk [Pologne] ; Myosotis Massidda [Italie] ; Carla M. Cal [Italie] ; Dmitry A. Dyatlov [Russie] ; Vitaliy A. Kolupaev [Russie] ; Yuliya E. Pushkareva [Russie] ; Agnieszka Maciejewska ; Marek Sawczuk ; Antonio H. Lancha [Brésil] ; Guilherme G. Artioli [Brésil] ; Nir Eynon [Australie]Source :
- PLoS ONE [ 1932-6203 ] ; 2016.
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
Url:
DOI: 10.1371/journal.pone.0156316
PubMed: 27253421
PubMed Central: 4890799
Affiliations:
- Australie, Brésil, France, Italie, Pologne, Russie
- Victoria (État), État de São Paulo, Île-de-France
- Jouy-en-Josas, Melbourne, São Paulo
- Université de São Paulo
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L." last="Guilherme">João Paulo F. L. Guilherme</name><affiliation wicri:level="4"><nlm:aff id="aff003"><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Yan, Xu" sort="Yan, Xu" uniqKey="Yan X" first="Xu" last="Yan">Xu Yan</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Pushkarev, Vladimir P" sort="Pushkarev, Vladimir P" uniqKey="Pushkarev V" first="Vladimir P." last="Pushkarev">Vladimir P. Pushkarev</name><affiliation wicri:level="1"><nlm:aff id="aff004"><addr-line>Laboratory of Radiation Genetics, Urals Research Centre for Radiation Medicine of the Federal Medical-Biological Agency of Russia, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Laboratory of Radiation Genetics, Urals Research Centre for Radiation Medicine of the Federal Medical-Biological Agency of Russia, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff010"><addr-line>Department of Radiation Biology, Chelyabinsk State University, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Department of Radiation Biology, Chelyabinsk State University, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Cieszczyk, Pawel" sort="Cieszczyk, Pawel" uniqKey="Cieszczyk P" first="Pawel" last="Cieszczyk">Pawel Cieszczyk</name><affiliation wicri:level="1"><nlm:aff id="aff005"><addr-line>Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk</wicri:regionArea><wicri:noRegion>Gdansk</wicri:noRegion></affiliation><affiliation><nlm:aff id="aff009"><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></nlm:aff><wicri:noCountry code="subfield">Szczecin Poland</wicri:noCountry></affiliation></author><author><name sortKey="Massidda, Myosotis" sort="Massidda, Myosotis" uniqKey="Massidda M" first="Myosotis" last="Massidda">Myosotis Massidda</name><affiliation wicri:level="1"><nlm:aff id="aff006"><addr-line>Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Life and Environmental Sciences, University of Cagliari, Cagliari</wicri:regionArea><wicri:noRegion>Cagliari</wicri:noRegion></affiliation></author><author><name sortKey="Cal, Carla M" sort="Cal, Carla M" uniqKey="Cal C" first="Carla M." last="Cal">Carla M. Cal</name><affiliation wicri:level="1"><nlm:aff id="aff006"><addr-line>Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Life and Environmental Sciences, University of Cagliari, Cagliari</wicri:regionArea><wicri:noRegion>Cagliari</wicri:noRegion></affiliation></author><author><name sortKey="Dyatlov, Dmitry A" sort="Dyatlov, Dmitry A" uniqKey="Dyatlov D" first="Dmitry A." last="Dyatlov">Dmitry A. Dyatlov</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Ural State University of Physical Culture, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Ural State University of Physical Culture, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Kolupaev, Vitaliy A" sort="Kolupaev, Vitaliy A" uniqKey="Kolupaev V" first="Vitaliy A." last="Kolupaev">Vitaliy A. Kolupaev</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Ural State University of Physical Culture, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Ural State University of Physical Culture, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Pushkareva, Yuliya E" sort="Pushkareva, Yuliya E" uniqKey="Pushkareva Y" first="Yuliya E." last="Pushkareva">Yuliya E. Pushkareva</name><affiliation wicri:level="1"><nlm:aff id="aff008"><addr-line>South Ural State Medical University, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>South Ural State Medical University, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Maciejewska, Agnieszka" sort="Maciejewska, Agnieszka" uniqKey="Maciejewska A" first="Agnieszka" last="Maciejewska">Agnieszka Maciejewska</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></nlm:aff><wicri:noCountry code="subfield">Szczecin Poland</wicri:noCountry></affiliation></author><author><name sortKey="Sawczuk, Marek" sort="Sawczuk, Marek" uniqKey="Sawczuk M" first="Marek" last="Sawczuk">Marek Sawczuk</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></nlm:aff><wicri:noCountry code="subfield">Szczecin Poland</wicri:noCountry></affiliation></author><author><name sortKey="Lancha, Antonio H" sort="Lancha, Antonio H" uniqKey="Lancha A" first="Antonio H." last="Lancha">Antonio H. Lancha</name><affiliation wicri:level="4"><nlm:aff id="aff003"><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Artioli, Guilherme G" sort="Artioli, Guilherme G" uniqKey="Artioli G" first="Guilherme G." last="Artioli">Guilherme G. Artioli</name><affiliation wicri:level="4"><nlm:aff id="aff003"><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Eynon, Nir" sort="Eynon, Nir" uniqKey="Eynon N" first="Nir" last="Eynon">Nir Eynon</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27253421</idno><idno type="pmc">4890799</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890799</idno><idno type="RBID">PMC:4890799</idno><idno type="doi">10.1371/journal.pone.0156316</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000614</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000614</idno><idno type="wicri:Area/Pmc/Curation">000613</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000613</idno><idno type="wicri:Area/Pmc/Checkpoint">000C04</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000C04</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>ACVR1B</italic> rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians</title><author><name sortKey="Voisin, Sarah" sort="Voisin, Sarah" uniqKey="Voisin S" first="Sarah" last="Voisin">Sarah Voisin</name><affiliation wicri:level="3"><nlm:aff id="aff001"><addr-line>INRA, UMR1198 Biologie du Développement et Reproduction, F-78350, Jouy-en-Josas, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INRA, UMR1198 Biologie du Développement et Reproduction, F-78350, Jouy-en-Josas</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Jouy-en-Josas</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Guilherme, Joao Paulo F L" sort="Guilherme, Joao Paulo F L" uniqKey="Guilherme J" first="João Paulo F. L." last="Guilherme">João Paulo F. L. Guilherme</name><affiliation wicri:level="4"><nlm:aff id="aff003"><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Yan, Xu" sort="Yan, Xu" uniqKey="Yan X" first="Xu" last="Yan">Xu Yan</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Pushkarev, Vladimir P" sort="Pushkarev, Vladimir P" uniqKey="Pushkarev V" first="Vladimir P." last="Pushkarev">Vladimir P. Pushkarev</name><affiliation wicri:level="1"><nlm:aff id="aff004"><addr-line>Laboratory of Radiation Genetics, Urals Research Centre for Radiation Medicine of the Federal Medical-Biological Agency of Russia, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Laboratory of Radiation Genetics, Urals Research Centre for Radiation Medicine of the Federal Medical-Biological Agency of Russia, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff010"><addr-line>Department of Radiation Biology, Chelyabinsk State University, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Department of Radiation Biology, Chelyabinsk State University, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Cieszczyk, Pawel" sort="Cieszczyk, Pawel" uniqKey="Cieszczyk P" first="Pawel" last="Cieszczyk">Pawel Cieszczyk</name><affiliation wicri:level="1"><nlm:aff id="aff005"><addr-line>Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk</wicri:regionArea><wicri:noRegion>Gdansk</wicri:noRegion></affiliation><affiliation><nlm:aff id="aff009"><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></nlm:aff><wicri:noCountry code="subfield">Szczecin Poland</wicri:noCountry></affiliation></author><author><name sortKey="Massidda, Myosotis" sort="Massidda, Myosotis" uniqKey="Massidda M" first="Myosotis" last="Massidda">Myosotis Massidda</name><affiliation wicri:level="1"><nlm:aff id="aff006"><addr-line>Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Life and Environmental Sciences, University of Cagliari, Cagliari</wicri:regionArea><wicri:noRegion>Cagliari</wicri:noRegion></affiliation></author><author><name sortKey="Cal, Carla M" sort="Cal, Carla M" uniqKey="Cal C" first="Carla M." last="Cal">Carla M. Cal</name><affiliation wicri:level="1"><nlm:aff id="aff006"><addr-line>Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Life and Environmental Sciences, University of Cagliari, Cagliari</wicri:regionArea><wicri:noRegion>Cagliari</wicri:noRegion></affiliation></author><author><name sortKey="Dyatlov, Dmitry A" sort="Dyatlov, Dmitry A" uniqKey="Dyatlov D" first="Dmitry A." last="Dyatlov">Dmitry A. Dyatlov</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Ural State University of Physical Culture, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Ural State University of Physical Culture, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Kolupaev, Vitaliy A" sort="Kolupaev, Vitaliy A" uniqKey="Kolupaev V" first="Vitaliy A." last="Kolupaev">Vitaliy A. Kolupaev</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Ural State University of Physical Culture, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>Ural State University of Physical Culture, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Pushkareva, Yuliya E" sort="Pushkareva, Yuliya E" uniqKey="Pushkareva Y" first="Yuliya E." last="Pushkareva">Yuliya E. Pushkareva</name><affiliation wicri:level="1"><nlm:aff id="aff008"><addr-line>South Ural State Medical University, Chelyabinsk, Russia</addr-line></nlm:aff><country xml:lang="fr">Russie</country><wicri:regionArea>South Ural State Medical University, Chelyabinsk</wicri:regionArea><wicri:noRegion>Chelyabinsk</wicri:noRegion></affiliation></author><author><name sortKey="Maciejewska, Agnieszka" sort="Maciejewska, Agnieszka" uniqKey="Maciejewska A" first="Agnieszka" last="Maciejewska">Agnieszka Maciejewska</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></nlm:aff><wicri:noCountry code="subfield">Szczecin Poland</wicri:noCountry></affiliation></author><author><name sortKey="Sawczuk, Marek" sort="Sawczuk, Marek" uniqKey="Sawczuk M" first="Marek" last="Sawczuk">Marek Sawczuk</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></nlm:aff><wicri:noCountry code="subfield">Szczecin Poland</wicri:noCountry></affiliation></author><author><name sortKey="Lancha, Antonio H" sort="Lancha, Antonio H" uniqKey="Lancha A" first="Antonio H." last="Lancha">Antonio H. Lancha</name><affiliation wicri:level="4"><nlm:aff id="aff003"><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Artioli, Guilherme G" sort="Artioli, Guilherme G" uniqKey="Artioli G" first="Guilherme G." last="Artioli">Guilherme G. Artioli</name><affiliation wicri:level="4"><nlm:aff id="aff003"><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Eynon, Nir" sort="Eynon, Nir" uniqKey="Eynon N" first="Nir" last="Eynon">Nir Eynon</name><affiliation wicri:level="3"><nlm:aff id="aff002"><addr-line>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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 <italic>ACVR1B</italic> 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 <italic>ACVR1B</italic> 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 <italic>ACVR1B</italic> 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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Slater, G" uniqKey="Slater G">G Slater</name></author><author><name sortKey="Phillips, Sm" uniqKey="Phillips S">SM Phillips</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pitsiladis, Y" uniqKey="Pitsiladis Y">Y Pitsiladis</name></author><author><name sortKey="Wang, G" uniqKey="Wang G">G Wang</name></author><author><name sortKey="Wolfarth, B" uniqKey="Wolfarth B">B Wolfarth</name></author><author><name sortKey="Scott, R" uniqKey="Scott R">R Scott</name></author><author><name sortKey="Fuku, N" uniqKey="Fuku N">N Fuku</name></author><author><name sortKey="Mikami, E" uniqKey="Mikami E">E Mikami</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Costa, Am" uniqKey="Costa A">AM Costa</name></author><author><name 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<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id><journal-id journal-id-type="iso-abbrev">PLoS ONE</journal-id><journal-id journal-id-type="publisher-id">plos</journal-id><journal-id journal-id-type="pmc">plosone</journal-id><journal-title-group><journal-title>PLoS ONE</journal-title></journal-title-group><issn pub-type="epub">1932-6203</issn><publisher><publisher-name>Public Library of Science</publisher-name><publisher-loc>San Francisco, CA USA</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27253421</article-id><article-id pub-id-type="pmc">4890799</article-id><article-id pub-id-type="doi">10.1371/journal.pone.0156316</article-id><article-id pub-id-type="publisher-id">PONE-D-16-04816</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Behavior</subject><subj-group><subject>Recreation</subject><subj-group><subject>Sports</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Sports Science</subject><subj-group><subject>Sports</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Biomechanics</subject><subj-group><subject>Biological Locomotion</subject><subj-group><subject>Swimming</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Physiology</subject><subj-group><subject>Biological Locomotion</subject><subj-group><subject>Swimming</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Medicine and Health Sciences</subject><subj-group><subject>Physiology</subject><subj-group><subject>Biological Locomotion</subject><subj-group><subject>Swimming</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>People and Places</subject><subj-group><subject>Population Groupings</subject><subj-group><subject>Ethnicities</subject><subj-group><subject>Italian People</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Behavior</subject><subj-group><subject>Human Performance</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Molecular Biology</subject><subj-group><subject>Molecular Biology Techniques</subject><subj-group><subject>Genotyping</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Research and Analysis Methods</subject><subj-group><subject>Molecular Biology Techniques</subject><subj-group><subject>Genotyping</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Anatomy</subject><subj-group><subject>Musculoskeletal System</subject><subj-group><subject>Muscles</subject><subj-group><subject>Skeletal Muscles</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Medicine and Health Sciences</subject><subj-group><subject>Anatomy</subject><subj-group><subject>Musculoskeletal System</subject><subj-group><subject>Muscles</subject><subj-group><subject>Skeletal Muscles</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>People and Places</subject><subj-group><subject>Population Groupings</subject><subj-group><subject>Ethnicities</subject><subj-group><subject>Polish People</subject></subj-group></subj-group></subj-group></subj-group></article-categories><title-group><article-title><italic>ACVR1B</italic> rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians</article-title><alt-title alt-title-type="running-head"><italic>ACVR1B</italic> A/G Polymorphism and Athletes</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Voisin</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Guilherme</surname><given-names>João Paulo F. L.</given-names></name><xref ref-type="aff" rid="aff003"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Yan</surname><given-names>Xu</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pushkarev</surname><given-names>Vladimir P.</given-names></name><xref ref-type="aff" rid="aff004"><sup>4</sup></xref><xref ref-type="aff" rid="aff010"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cieszczyk</surname><given-names>Pawel</given-names></name><xref ref-type="aff" rid="aff005"><sup>5</sup></xref><xref ref-type="aff" rid="aff009"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Massidda</surname><given-names>Myosotis</given-names></name><xref ref-type="aff" rid="aff006"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Calò</surname><given-names>Carla M.</given-names></name><xref ref-type="aff" rid="aff006"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dyatlov</surname><given-names>Dmitry A.</given-names></name><xref ref-type="aff" rid="aff007"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kolupaev</surname><given-names>Vitaliy A.</given-names></name><xref ref-type="aff" rid="aff007"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pushkareva</surname><given-names>Yuliya E.</given-names></name><xref ref-type="aff" rid="aff008"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Maciejewska</surname><given-names>Agnieszka</given-names></name><xref ref-type="aff" rid="aff009"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sawczuk</surname><given-names>Marek</given-names></name><xref ref-type="aff" rid="aff009"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lancha</surname><given-names>Antonio H.</given-names><suffix>Jr</suffix></name><xref ref-type="aff" rid="aff003"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Artioli</surname><given-names>Guilherme G.</given-names></name><xref ref-type="aff" rid="aff003"><sup>3</sup></xref></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid" authenticated="false">http://orcid.org/0000-0003-4046-8276</contrib-id><name><surname>Eynon</surname><given-names>Nir</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref><xref ref-type="corresp" rid="cor001">*</xref></contrib></contrib-group><aff id="aff001"><label>1</label><addr-line>INRA, UMR1198 Biologie du Développement et Reproduction, F-78350, Jouy-en-Josas, France</addr-line></aff><aff id="aff002"><label>2</label><addr-line>Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Melbourne, Australia</addr-line></aff><aff id="aff003"><label>3</label><addr-line>School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil</addr-line></aff><aff id="aff004"><label>4</label><addr-line>Laboratory of Radiation Genetics, Urals Research Centre for Radiation Medicine of the Federal Medical-Biological Agency of Russia, Chelyabinsk, Russia</addr-line></aff><aff id="aff005"><label>5</label><addr-line>Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk, Poland</addr-line></aff><aff id="aff006"><label>6</label><addr-line>Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy</addr-line></aff><aff id="aff007"><label>7</label><addr-line>Ural State University of Physical Culture, Chelyabinsk, Russia</addr-line></aff><aff id="aff008"><label>8</label><addr-line>South Ural State Medical University, Chelyabinsk, Russia</addr-line></aff><aff id="aff009"><label>9</label><addr-line>Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin Poland</addr-line></aff><aff id="aff010"><label>10</label><addr-line>Department of Radiation Biology, Chelyabinsk State University, Chelyabinsk, Russia</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Janigro</surname><given-names>Damir</given-names></name><role>Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1"><addr-line>Cleveland Clinic, UNITED STATES</addr-line></aff><author-notes><fn fn-type="conflict" id="coi001"><p><bold>Competing Interests: </bold>The authors have declared that no competing interests exist.</p></fn><fn fn-type="con" id="contrib001"><p>Conceived and designed the experiments: NE GGA VP PC MM. Performed the experiments: CMC DAD VAK JPG AM. Analyzed the data: SV YEP MS JPG. Contributed reagents/materials/analysis tools: GGA VP PC CMC. Wrote the paper: NE XY SV AHL GGA.</p></fn><corresp id="cor001">* E-mail: <email>Nir.Eynon@vu.edu.au</email></corresp></author-notes><pub-date pub-type="epub"><day>2</day><month>6</month><year>2016</year></pub-date><pub-date pub-type="collection"><year>2016</year></pub-date><volume>11</volume><issue>6</issue><elocation-id>e0156316</elocation-id><history><date date-type="received"><day>2</day><month>2</month><year>2016</year></date><date date-type="accepted"><day>12</day><month>5</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 Voisin et al</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>Voisin et al</copyright-holder><license xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an open access article distributed under the terms of the <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution License</ext-link>, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</license-p></license></permissions><self-uri content-type="pdf" xlink:href="pone.0156316.pdf"></self-uri><abstract><p>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 <italic>ACVR1B</italic> 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 <italic>ACVR1B</italic> 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 <italic>ACVR1B</italic> 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.</p></abstract><funding-group><award-group id="award001"><funding-source><institution>FAPESP</institution></funding-source><award-id>grant #12/22516-6</award-id><principal-award-recipient><name><surname>Artioli</surname><given-names>Guilherme G.</given-names></name></principal-award-recipient></award-group><funding-statement>The study was partly funded by FAPESP (grant #12/22516-6). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.</funding-statement></funding-group><counts><fig-count count="1"></fig-count><table-count count="2"></table-count><page-count count="11"></page-count></counts><custom-meta-group><custom-meta id="data-availability"><meta-name>Data Availability</meta-name><meta-value>All relevant data are within the paper and its Supporting Information files.</meta-value></custom-meta></custom-meta-group></article-meta><notes><title>Data Availability</title><p>All relevant data are within the paper and its Supporting Information files.</p></notes></front></pmc><affiliations><list><country><li>Australie</li><li>Brésil</li><li>France</li><li>Italie</li><li>Pologne</li><li>Russie</li></country><region><li>Victoria (État)</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Jouy-en-Josas</li><li>Melbourne</li><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li></orgName></list><tree><noCountry><name sortKey="Maciejewska, Agnieszka" sort="Maciejewska, Agnieszka" uniqKey="Maciejewska A" first="Agnieszka" last="Maciejewska">Agnieszka Maciejewska</name><name sortKey="Sawczuk, Marek" sort="Sawczuk, Marek" uniqKey="Sawczuk M" first="Marek" last="Sawczuk">Marek Sawczuk</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Voisin, Sarah" sort="Voisin, Sarah" uniqKey="Voisin S" first="Sarah" last="Voisin">Sarah Voisin</name></region></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Voisin, Sarah" sort="Voisin, Sarah" uniqKey="Voisin S" first="Sarah" last="Voisin">Sarah Voisin</name></region><name sortKey="Eynon, Nir" sort="Eynon, Nir" uniqKey="Eynon N" first="Nir" last="Eynon">Nir Eynon</name><name sortKey="Yan, Xu" sort="Yan, Xu" uniqKey="Yan X" first="Xu" last="Yan">Xu Yan</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Guilherme, Joao Paulo F L" sort="Guilherme, Joao Paulo F L" uniqKey="Guilherme J" first="João Paulo F. L." last="Guilherme">João Paulo F. L. Guilherme</name></region><name sortKey="Artioli, Guilherme G" sort="Artioli, Guilherme G" uniqKey="Artioli G" first="Guilherme G." last="Artioli">Guilherme G. Artioli</name><name sortKey="Lancha, Antonio H" sort="Lancha, Antonio H" uniqKey="Lancha A" first="Antonio H." last="Lancha">Antonio H. Lancha</name></country><country name="Russie"><noRegion><name sortKey="Pushkarev, Vladimir P" sort="Pushkarev, Vladimir P" uniqKey="Pushkarev V" first="Vladimir P." last="Pushkarev">Vladimir P. Pushkarev</name></noRegion><name sortKey="Dyatlov, Dmitry A" sort="Dyatlov, Dmitry A" uniqKey="Dyatlov D" first="Dmitry A." last="Dyatlov">Dmitry A. Dyatlov</name><name sortKey="Kolupaev, Vitaliy A" sort="Kolupaev, Vitaliy A" uniqKey="Kolupaev V" first="Vitaliy A." last="Kolupaev">Vitaliy A. Kolupaev</name><name sortKey="Pushkarev, Vladimir P" sort="Pushkarev, Vladimir P" uniqKey="Pushkarev V" first="Vladimir P." last="Pushkarev">Vladimir P. Pushkarev</name><name sortKey="Pushkareva, Yuliya E" sort="Pushkareva, Yuliya E" uniqKey="Pushkareva Y" first="Yuliya E." last="Pushkareva">Yuliya E. Pushkareva</name></country><country name="Pologne"><noRegion><name sortKey="Cieszczyk, Pawel" sort="Cieszczyk, Pawel" uniqKey="Cieszczyk P" first="Pawel" last="Cieszczyk">Pawel Cieszczyk</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Massidda, Myosotis" sort="Massidda, Myosotis" uniqKey="Massidda M" first="Myosotis" last="Massidda">Myosotis Massidda</name></noRegion><name sortKey="Cal, Carla M" sort="Cal, Carla M" uniqKey="Cal C" first="Carla M." last="Cal">Carla M. Cal</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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