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Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance

Elliott C.R. Hall, Sandro S. Almeida, Shane Heffernan Orcid Logo, Sarah J. Lockey, Adam J. Herbert, Peter Callus, Stephen H. Day, Charles R. Pedlar, Courtney Kipps, Malcolm Collins, Yannis P. Pitsiladis, Mark A. Bennett, Liam Kilduff Orcid Logo, Georgina K. Stebbings, Robert M. Erskine, Alun G. Williams

International Journal of Sports Physiology and Performance, Volume: 16, Issue: 12, Pages: 1 - 7

Swansea University Authors: Shane Heffernan Orcid Logo, Liam Kilduff Orcid Logo

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DOI (Published version): 10.1123/ijspp.2020-0856

Abstract

Purpose: Genetic polymorphisms have been associated with the adaptation to training in maximal oxygen uptake (˙VO2max). However, the genotype distribution of selected polymorphisms in athletic cohorts is unknown, with their influence on performance characteristics also undetermined. This study inves...

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Published in: International Journal of Sports Physiology and Performance
ISSN: 1555-0265 1555-0273
Published: Human Kinetics 2021
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URI: https://cronfa.swan.ac.uk/Record/cronfa57037
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2022-10-31T12:22:50.3038130</datestamp><bib-version>v2</bib-version><id>57037</id><entry>2021-06-07</entry><title>Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance</title><swanseaauthors><author><sid>72c0b36891dfbec0378c0d0f7916e807</sid><ORCID>0000-0002-3297-9335</ORCID><firstname>Shane</firstname><surname>Heffernan</surname><name>Shane Heffernan</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>972ed9a1dda7a0de20581a0f8350be98</sid><ORCID>0000-0001-9449-2293</ORCID><firstname>Liam</firstname><surname>Kilduff</surname><name>Liam Kilduff</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2021-06-07</date><deptcode>STSC</deptcode><abstract>Purpose: Genetic polymorphisms have been associated with the adaptation to training in maximal oxygen uptake (&#x2D9;VO2max). However, the genotype distribution of selected polymorphisms in athletic cohorts is unknown, with their influence on performance characteristics also undetermined. This study investigated whether the genotype distributions of 3 polymorphisms previously associated with &#x2D9;VO2max training adaptation are associated with elite athlete status and performance characteristics in runners and rugby athletes, competitors for whom aerobic metabolism is important. Methods: Genomic DNA was collected from 732 men including 165 long-distance runners, 212 elite rugby union athletes, and 355 nonathletes. Genotype and allele frequencies of PRDM1 rs10499043 C/T, GRIN3A rs1535628 G/A, and KCNH8 rs4973706 T/C were compared between athletes and nonathletes. Personal-best marathon times in runners, as well as in-game performance variables and playing position, of rugby athletes were analyzed according to genotype. Results: Runners with PRDM1 T alleles recorded marathon times &#x223C;3 minutes faster than CC homozygotes (02:27:55 [00:07:32] h vs 02:31:03 [00:08:24] h, P&#x2009;=&#x2009;.023). Rugby athletes had 1.57 times greater odds of possessing the KCNH8 TT genotype than nonathletes (65.5% vs 54.7%, &#x3C7;2&#x2009;=&#x2009;6.494, P&#x2009;=&#x2009;.013). No other associations were identified. Conclusions: This study is the first to demonstrate that polymorphisms previously associated with &#x2D9;VO2max training adaptations in nonathletes are also associated with marathon performance (PRDM1) and elite rugby union status (KCNH8). The genotypes and alleles previously associated with superior endurance-training adaptation appear to be advantageous in long-distance running and achieving elite status in rugby union.</abstract><type>Journal Article</type><journal>International Journal of Sports Physiology and Performance</journal><volume>16</volume><journalNumber>12</journalNumber><paginationStart>1</paginationStart><paginationEnd>7</paginationEnd><publisher>Human Kinetics</publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint>1555-0265</issnPrint><issnElectronic>1555-0273</issnElectronic><keywords>genomics, exercise, heritability, endurance</keywords><publishedDay>4</publishedDay><publishedMonth>6</publishedMonth><publishedYear>2021</publishedYear><publishedDate>2021-06-04</publishedDate><doi>10.1123/ijspp.2020-0856</doi><url/><notes/><college>COLLEGE NANME</college><department>Sport and Exercise Sciences</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>STSC</DepartmentCode><institution>Swansea University</institution><apcterm>Not Required</apcterm><funders/><projectreference/><lastEdited>2022-10-31T12:22:50.3038130</lastEdited><Created>2021-06-07T09:28:14.2375465</Created><path><level id="1">Faculty of Science and Engineering</level><level id="2">School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences</level></path><authors><author><firstname>Elliott C.R.</firstname><surname>Hall</surname><order>1</order></author><author><firstname>Sandro S.</firstname><surname>Almeida</surname><order>2</order></author><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>3</order></author><author><firstname>Sarah J.</firstname><surname>Lockey</surname><order>4</order></author><author><firstname>Adam J.</firstname><surname>Herbert</surname><order>5</order></author><author><firstname>Peter</firstname><surname>Callus</surname><order>6</order></author><author><firstname>Stephen H.</firstname><surname>Day</surname><order>7</order></author><author><firstname>Charles R.</firstname><surname>Pedlar</surname><order>8</order></author><author><firstname>Courtney</firstname><surname>Kipps</surname><order>9</order></author><author><firstname>Malcolm</firstname><surname>Collins</surname><order>10</order></author><author><firstname>Yannis P.</firstname><surname>Pitsiladis</surname><order>11</order></author><author><firstname>Mark A.</firstname><surname>Bennett</surname><order>12</order></author><author><firstname>Liam</firstname><surname>Kilduff</surname><orcid>0000-0001-9449-2293</orcid><order>13</order></author><author><firstname>Georgina K.</firstname><surname>Stebbings</surname><order>14</order></author><author><firstname>Robert M.</firstname><surname>Erskine</surname><order>15</order></author><author><firstname>Alun G.</firstname><surname>Williams</surname><order>16</order></author></authors><documents><document><filename>57037__20063__a1d3d9ffcac2460f974fbc15468ef435.pdf</filename><originalFilename>57037.pdf</originalFilename><uploaded>2021-06-07T09:30:37.0868317</uploaded><type>Output</type><contentLength>520760</contentLength><contentType>application/pdf</contentType><version>Accepted Manuscript</version><cronfaStatus>true</cronfaStatus><copyrightCorrect>true</copyrightCorrect><language>eng</language></document></documents><OutputDurs/></rfc1807>
spelling 2022-10-31T12:22:50.3038130 v2 57037 2021-06-07 Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 972ed9a1dda7a0de20581a0f8350be98 0000-0001-9449-2293 Liam Kilduff Liam Kilduff true false 2021-06-07 STSC Purpose: Genetic polymorphisms have been associated with the adaptation to training in maximal oxygen uptake (˙VO2max). However, the genotype distribution of selected polymorphisms in athletic cohorts is unknown, with their influence on performance characteristics also undetermined. This study investigated whether the genotype distributions of 3 polymorphisms previously associated with ˙VO2max training adaptation are associated with elite athlete status and performance characteristics in runners and rugby athletes, competitors for whom aerobic metabolism is important. Methods: Genomic DNA was collected from 732 men including 165 long-distance runners, 212 elite rugby union athletes, and 355 nonathletes. Genotype and allele frequencies of PRDM1 rs10499043 C/T, GRIN3A rs1535628 G/A, and KCNH8 rs4973706 T/C were compared between athletes and nonathletes. Personal-best marathon times in runners, as well as in-game performance variables and playing position, of rugby athletes were analyzed according to genotype. Results: Runners with PRDM1 T alleles recorded marathon times ∼3 minutes faster than CC homozygotes (02:27:55 [00:07:32] h vs 02:31:03 [00:08:24] h, P = .023). Rugby athletes had 1.57 times greater odds of possessing the KCNH8 TT genotype than nonathletes (65.5% vs 54.7%, χ2 = 6.494, P = .013). No other associations were identified. Conclusions: This study is the first to demonstrate that polymorphisms previously associated with ˙VO2max training adaptations in nonathletes are also associated with marathon performance (PRDM1) and elite rugby union status (KCNH8). The genotypes and alleles previously associated with superior endurance-training adaptation appear to be advantageous in long-distance running and achieving elite status in rugby union. Journal Article International Journal of Sports Physiology and Performance 16 12 1 7 Human Kinetics 1555-0265 1555-0273 genomics, exercise, heritability, endurance 4 6 2021 2021-06-04 10.1123/ijspp.2020-0856 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University Not Required 2022-10-31T12:22:50.3038130 2021-06-07T09:28:14.2375465 Faculty of Science and Engineering School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences Elliott C.R. Hall 1 Sandro S. Almeida 2 Shane Heffernan 0000-0002-3297-9335 3 Sarah J. Lockey 4 Adam J. Herbert 5 Peter Callus 6 Stephen H. Day 7 Charles R. Pedlar 8 Courtney Kipps 9 Malcolm Collins 10 Yannis P. Pitsiladis 11 Mark A. Bennett 12 Liam Kilduff 0000-0001-9449-2293 13 Georgina K. Stebbings 14 Robert M. Erskine 15 Alun G. Williams 16 57037__20063__a1d3d9ffcac2460f974fbc15468ef435.pdf 57037.pdf 2021-06-07T09:30:37.0868317 Output 520760 application/pdf Accepted Manuscript true true eng
title Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
spellingShingle Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
Shane Heffernan
Liam Kilduff
title_short Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
title_full Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
title_fullStr Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
title_full_unstemmed Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
title_sort Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
972ed9a1dda7a0de20581a0f8350be98
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
972ed9a1dda7a0de20581a0f8350be98_***_Liam Kilduff
author Shane Heffernan
Liam Kilduff
author2 Elliott C.R. Hall
Sandro S. Almeida
Shane Heffernan
Sarah J. Lockey
Adam J. Herbert
Peter Callus
Stephen H. Day
Charles R. Pedlar
Courtney Kipps
Malcolm Collins
Yannis P. Pitsiladis
Mark A. Bennett
Liam Kilduff
Georgina K. Stebbings
Robert M. Erskine
Alun G. Williams
format Journal article
container_title International Journal of Sports Physiology and Performance
container_volume 16
container_issue 12
container_start_page 1
publishDate 2021
institution Swansea University
issn 1555-0265
1555-0273
doi_str_mv 10.1123/ijspp.2020-0856
publisher Human Kinetics
college_str Faculty of Science and Engineering
hierarchytype
hierarchy_top_id facultyofscienceandengineering
hierarchy_top_title Faculty of Science and Engineering
hierarchy_parent_id facultyofscienceandengineering
hierarchy_parent_title Faculty of Science and Engineering
department_str School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences{{{_:::_}}}Faculty of Science and Engineering{{{_:::_}}}School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences
document_store_str 1
active_str 0
description Purpose: Genetic polymorphisms have been associated with the adaptation to training in maximal oxygen uptake (˙VO2max). However, the genotype distribution of selected polymorphisms in athletic cohorts is unknown, with their influence on performance characteristics also undetermined. This study investigated whether the genotype distributions of 3 polymorphisms previously associated with ˙VO2max training adaptation are associated with elite athlete status and performance characteristics in runners and rugby athletes, competitors for whom aerobic metabolism is important. Methods: Genomic DNA was collected from 732 men including 165 long-distance runners, 212 elite rugby union athletes, and 355 nonathletes. Genotype and allele frequencies of PRDM1 rs10499043 C/T, GRIN3A rs1535628 G/A, and KCNH8 rs4973706 T/C were compared between athletes and nonathletes. Personal-best marathon times in runners, as well as in-game performance variables and playing position, of rugby athletes were analyzed according to genotype. Results: Runners with PRDM1 T alleles recorded marathon times ∼3 minutes faster than CC homozygotes (02:27:55 [00:07:32] h vs 02:31:03 [00:08:24] h, P = .023). Rugby athletes had 1.57 times greater odds of possessing the KCNH8 TT genotype than nonathletes (65.5% vs 54.7%, χ2 = 6.494, P = .013). No other associations were identified. Conclusions: This study is the first to demonstrate that polymorphisms previously associated with ˙VO2max training adaptations in nonathletes are also associated with marathon performance (PRDM1) and elite rugby union status (KCNH8). The genotypes and alleles previously associated with superior endurance-training adaptation appear to be advantageous in long-distance running and achieving elite status in rugby union.
published_date 2021-06-04T04:12:28Z
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score 11.036815

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