ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians
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 incr...
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creator | Voisin, Sarah Guilherme, João Paulo F L Yan, Xu Pushkarev, Vladimir P Cieszczyk, Pawel Massidda, Myosotis Calò, Carla M Dyatlov, Dmitry A Kolupaev, Vitaliy A Pushkareva, Yuliya E Maciejewska, Agnieszka Sawczuk, Marek Lancha, Jr, Antonio H Artioli, Guilherme G Eynon, Nir |
description | 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. |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0156316</identifier><identifier>PMID: 27253421</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Activin Receptors, Type I - genetics ; Adjustment ; Alleles ; Analysis ; Athletes ; Athletic Performance ; Biology and Life Sciences ; Brazil ; Collaboration ; Computer Science ; Deoxyribonucleic acid ; DNA ; Endurance ; Environmental science ; European Continental Ancestry Group ; Exercise ; Female ; Gene Frequency ; Genes ; Genetic aspects ; Genetic Association Studies ; Genetic diversity ; Genetic variance ; Genetics ; Genomics ; Genotyping ; Growth factors ; Health promotion ; Humans ; Life Sciences ; Male ; Medicine and Health Sciences ; Minority & ethnic groups ; Muscle strength ; Muscle Strength - genetics ; Musculoskeletal system ; People and Places ; Physical education ; Physical Endurance - genetics ; Physiological aspects ; Poland ; Polymorphism, Single Nucleotide ; Population ; Power ; Research and Analysis Methods ; Russia ; Skeletal muscle ; South America ; Studies ; Test procedures</subject><ispartof>PloS one, 2016-06, Vol.11 (6), p.e0156316-e0156316</ispartof><rights>COPYRIGHT 2016 Public Library of Science</rights><rights>2016 Voisin et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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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.</description><subject>Activin Receptors, Type I - genetics</subject><subject>Adjustment</subject><subject>Alleles</subject><subject>Analysis</subject><subject>Athletes</subject><subject>Athletic Performance</subject><subject>Biology and Life Sciences</subject><subject>Brazil</subject><subject>Collaboration</subject><subject>Computer Science</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Endurance</subject><subject>Environmental science</subject><subject>European Continental Ancestry Group</subject><subject>Exercise</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies</subject><subject>Genetic diversity</subject><subject>Genetic variance</subject><subject>Genetics</subject><subject>Genomics</subject><subject>Genotyping</subject><subject>Growth factors</subject><subject>Health promotion</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medicine and Health Sciences</subject><subject>Minority & ethnic groups</subject><subject>Muscle strength</subject><subject>Muscle Strength - genetics</subject><subject>Musculoskeletal system</subject><subject>People and Places</subject><subject>Physical education</subject><subject>Physical Endurance - genetics</subject><subject>Physiological aspects</subject><subject>Poland</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Power</subject><subject>Research and Analysis Methods</subject><subject>Russia</subject><subject>Skeletal muscle</subject><subject>South America</subject><subject>Studies</subject><subject>Test procedures</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNk1tv0zAUxyMEYmPwDRBYQkLsoZ1v8eUFqasGq1QxtMFeLcdxGk9pXGxnAz49Lu2mddrDlAdHx7_zPzefoniL4BgRjo6u_BB63Y1XvrdjiEpGEHtW7CNJ8IhhSJ7f-98rXsV4BWFJBGMviz3McUkoRvtFmEwvz9ExCBGLklJGwSyCSYzeOJ1sDW5casHFKrg-HX33NzaASWo7m5wBF0mnIQLXAw3mOiwsmPrWhwR8A06G4FdW9xFUQwLffALHQf91ncum18WLRnfRvtmeB8XPLyc_pqej-dnX2XQyHxleyjQyTFKGmEHIsKZCUlBSydoyQVAuA2nZ5GwbXKHKEk4wZVVZi7oUxjaGNJaQg-L9RnfV-ai27YoKcUlKDjmWmZhtiNrrK5WLXOrwR3nt1H-DDwulQy61s4pyU1koGgSZpjwnUBrJccUrI4SsyTra5220oVra2tg-Bd3tiO7e9K5VC3-tqJCQy3UyhxuB9oHb6WSu1jaIWZ67wNcos5-2wYL_NdiY1NJFY7tO99YPuUYBBeOc0CeguR0S0iyd0Q8P0MebtqUWOvfF9Y3P5Zi1qJrQkmJY5qllavwIlb_aLp3JT7Zx2b7jcLjjkJlkf6eFHmJUs4vzp7Nnl7vsx3tsa3WX2ui7ITnfx12QbkATfIzBNndDQFCtN-62G2q9cWq7cdnt3f253zndrhj5B3beIYE</recordid><startdate>20160602</startdate><enddate>20160602</enddate><creator>Voisin, Sarah</creator><creator>Guilherme, João Paulo F L</creator><creator>Yan, Xu</creator><creator>Pushkarev, Vladimir P</creator><creator>Cieszczyk, Pawel</creator><creator>Massidda, Myosotis</creator><creator>Calò, Carla M</creator><creator>Dyatlov, Dmitry A</creator><creator>Kolupaev, Vitaliy A</creator><creator>Pushkareva, Yuliya E</creator><creator>Maciejewska, Agnieszka</creator><creator>Sawczuk, Marek</creator><creator>Lancha, Jr, Antonio H</creator><creator>Artioli, Guilherme G</creator><creator>Eynon, Nir</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0003-4046-8276</orcidid></search><sort><creationdate>20160602</creationdate><title>ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians</title><author>Voisin, Sarah ; Guilherme, João Paulo F L ; Yan, Xu ; Pushkarev, Vladimir P ; Cieszczyk, Pawel ; Massidda, Myosotis ; Calò, Carla M ; Dyatlov, Dmitry A ; Kolupaev, Vitaliy A ; Pushkareva, Yuliya E ; Maciejewska, Agnieszka ; Sawczuk, Marek ; Lancha, Jr, Antonio H ; Artioli, Guilherme G ; Eynon, Nir</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c759t-c694616c11c6fb19843b9de68315381a9f464f2b1be373246b5d8d58cefc3fe33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Activin Receptors, Type I - 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genetics</topic><topic>Physiological aspects</topic><topic>Poland</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population</topic><topic>Power</topic><topic>Research and Analysis Methods</topic><topic>Russia</topic><topic>Skeletal muscle</topic><topic>South America</topic><topic>Studies</topic><topic>Test procedures</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Voisin, Sarah</creatorcontrib><creatorcontrib>Guilherme, João Paulo F L</creatorcontrib><creatorcontrib>Yan, Xu</creatorcontrib><creatorcontrib>Pushkarev, Vladimir P</creatorcontrib><creatorcontrib>Cieszczyk, Pawel</creatorcontrib><creatorcontrib>Massidda, Myosotis</creatorcontrib><creatorcontrib>Calò, Carla M</creatorcontrib><creatorcontrib>Dyatlov, Dmitry A</creatorcontrib><creatorcontrib>Kolupaev, Vitaliy A</creatorcontrib><creatorcontrib>Pushkareva, Yuliya E</creatorcontrib><creatorcontrib>Maciejewska, Agnieszka</creatorcontrib><creatorcontrib>Sawczuk, Marek</creatorcontrib><creatorcontrib>Lancha, Jr, Antonio H</creatorcontrib><creatorcontrib>Artioli, Guilherme G</creatorcontrib><creatorcontrib>Eynon, Nir</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Voisin, Sarah</au><au>Guilherme, João Paulo F L</au><au>Yan, Xu</au><au>Pushkarev, Vladimir P</au><au>Cieszczyk, Pawel</au><au>Massidda, Myosotis</au><au>Calò, Carla M</au><au>Dyatlov, Dmitry A</au><au>Kolupaev, Vitaliy A</au><au>Pushkareva, Yuliya E</au><au>Maciejewska, Agnieszka</au><au>Sawczuk, Marek</au><au>Lancha, Jr, Antonio H</au><au>Artioli, Guilherme G</au><au>Eynon, Nir</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2016-06-02</date><risdate>2016</risdate><volume>11</volume><issue>6</issue><spage>e0156316</spage><epage>e0156316</epage><pages>e0156316-e0156316</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>27253421</pmid><doi>10.1371/journal.pone.0156316</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0003-4046-8276</orcidid><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1932-6203 |
ispartof | PloS one, 2016-06, Vol.11 (6), p.e0156316-e0156316 |
issn | 1932-6203 1932-6203 |
language | eng |
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source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
subjects | Activin Receptors, Type I - genetics Adjustment Alleles Analysis Athletes Athletic Performance Biology and Life Sciences Brazil Collaboration Computer Science Deoxyribonucleic acid DNA Endurance Environmental science European Continental Ancestry Group Exercise Female Gene Frequency Genes Genetic aspects Genetic Association Studies Genetic diversity Genetic variance Genetics Genomics Genotyping Growth factors Health promotion Humans Life Sciences Male Medicine and Health Sciences Minority & ethnic groups Muscle strength Muscle Strength - genetics Musculoskeletal system People and Places Physical education Physical Endurance - genetics Physiological aspects Poland Polymorphism, Single Nucleotide Population Power Research and Analysis Methods Russia Skeletal muscle South America Studies Test procedures |
title | ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians |
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