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Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position

Shane Heffernan Orcid Logo, Liam Kilduff Orcid Logo, R. M. Erskine, S. H. Day, J. S. McPhee, G. E. McMahon, G. K. Stebbings, J. P. H. Neale, S. J. Lockey, W. J. Ribbans, C. J. Cook, B. Vance, S. M. Raleigh, C. Roberts, M. A. Bennett, G. Wang, M. Collins, Y. P. Pitsiladis, A. G. Williams

Physiological Genomics, Volume: 48, Issue: 3, Pages: 196 - 201

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

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DOI (Published version): 10.1152/physiolgenomics.00107.2015

Abstract

We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that...

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Published in: Physiological Genomics
ISSN: 1094-8341 1531-2267
Published: American Physiological Society 2016
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URI: https://cronfa.swan.ac.uk/Record/cronfa51441
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2020-10-19T17:36:40.0212564</datestamp><bib-version>v2</bib-version><id>51441</id><entry>2019-08-16</entry><title>Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position</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>2019-08-16</date><deptcode>STSC</deptcode><abstract>We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front five, back row, half backs, centers, and back three. Controls were 710 Caucasian men and women. Real-time PCR of genomic DNA was used to determine genotypes using TaqMan probes and groups were compared using &#x3C7;2 and odds ratio (OR) statistics. Correction of P values for multiple comparisons was according to Benjamini-Hochberg. There was no difference in ACE I/D genotype between groups. ACTN3 XX genotype tended to be underrepresented in rugby union backs (15.7%) compared with forwards (24.8%, P = 0.06). Interestingly, the 69 back three players (wings and full backs) in rugby union included only six XX genotype individuals (8.7%), with the R allele more common in the back three (68.8%) than controls (58.0%; &#x3C7;2 = 6.672, P = 0.04; OR = 1.60) and forwards (47.5%; &#x3C7;2 = 11.768, P = 0.01; OR = 2.00). Association of ACTN3 R577X with playing position in elite rugby union athletes suggests inherited fatigue resistance is more prevalent in forwards, while inherited sprint ability is more prevalent in backs, especially wings and full backs. These results also demonstrate the advantage of focusing genetic studies on a large cohort within a single sport, especially when intrasport positional differences exist, instead of combining several sports with varied demands and athlete characteristics.</abstract><type>Journal Article</type><journal>Physiological Genomics</journal><volume>48</volume><journalNumber>3</journalNumber><paginationStart>196</paginationStart><paginationEnd>201</paginationEnd><publisher>American Physiological Society</publisher><issnPrint>1094-8341</issnPrint><issnElectronic>1531-2267</issnElectronic><keywords>&#x3B1;-actinin-3, angiotensin converting enzyme, athlete genetics, RugbyGene project</keywords><publishedDay>1</publishedDay><publishedMonth>3</publishedMonth><publishedYear>2016</publishedYear><publishedDate>2016-03-01</publishedDate><doi>10.1152/physiolgenomics.00107.2015</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/><lastEdited>2020-10-19T17:36:40.0212564</lastEdited><Created>2019-08-16T10:55:06.6776609</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>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>1</order></author><author><firstname>Liam</firstname><surname>Kilduff</surname><orcid>0000-0001-9449-2293</orcid><order>2</order></author><author><firstname>R. M.</firstname><surname>Erskine</surname><order>3</order></author><author><firstname>S. H.</firstname><surname>Day</surname><order>4</order></author><author><firstname>J. S.</firstname><surname>McPhee</surname><order>5</order></author><author><firstname>G. E.</firstname><surname>McMahon</surname><order>6</order></author><author><firstname>G. K.</firstname><surname>Stebbings</surname><order>7</order></author><author><firstname>J. P. H.</firstname><surname>Neale</surname><order>8</order></author><author><firstname>S. J.</firstname><surname>Lockey</surname><order>9</order></author><author><firstname>W. J.</firstname><surname>Ribbans</surname><order>10</order></author><author><firstname>C. J.</firstname><surname>Cook</surname><order>11</order></author><author><firstname>B.</firstname><surname>Vance</surname><order>12</order></author><author><firstname>S. M.</firstname><surname>Raleigh</surname><order>13</order></author><author><firstname>C.</firstname><surname>Roberts</surname><order>14</order></author><author><firstname>M. A.</firstname><surname>Bennett</surname><order>15</order></author><author><firstname>G.</firstname><surname>Wang</surname><order>16</order></author><author><firstname>M.</firstname><surname>Collins</surname><order>17</order></author><author><firstname>Y. P.</firstname><surname>Pitsiladis</surname><order>18</order></author><author><firstname>A. G.</firstname><surname>Williams</surname><order>19</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2020-10-19T17:36:40.0212564 v2 51441 2019-08-16 Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 972ed9a1dda7a0de20581a0f8350be98 0000-0001-9449-2293 Liam Kilduff Liam Kilduff true false 2019-08-16 STSC We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front five, back row, half backs, centers, and back three. Controls were 710 Caucasian men and women. Real-time PCR of genomic DNA was used to determine genotypes using TaqMan probes and groups were compared using χ2 and odds ratio (OR) statistics. Correction of P values for multiple comparisons was according to Benjamini-Hochberg. There was no difference in ACE I/D genotype between groups. ACTN3 XX genotype tended to be underrepresented in rugby union backs (15.7%) compared with forwards (24.8%, P = 0.06). Interestingly, the 69 back three players (wings and full backs) in rugby union included only six XX genotype individuals (8.7%), with the R allele more common in the back three (68.8%) than controls (58.0%; χ2 = 6.672, P = 0.04; OR = 1.60) and forwards (47.5%; χ2 = 11.768, P = 0.01; OR = 2.00). Association of ACTN3 R577X with playing position in elite rugby union athletes suggests inherited fatigue resistance is more prevalent in forwards, while inherited sprint ability is more prevalent in backs, especially wings and full backs. These results also demonstrate the advantage of focusing genetic studies on a large cohort within a single sport, especially when intrasport positional differences exist, instead of combining several sports with varied demands and athlete characteristics. Journal Article Physiological Genomics 48 3 196 201 American Physiological Society 1094-8341 1531-2267 α-actinin-3, angiotensin converting enzyme, athlete genetics, RugbyGene project 1 3 2016 2016-03-01 10.1152/physiolgenomics.00107.2015 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2020-10-19T17:36:40.0212564 2019-08-16T10:55:06.6776609 Faculty of Science and Engineering School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences Shane Heffernan 0000-0002-3297-9335 1 Liam Kilduff 0000-0001-9449-2293 2 R. M. Erskine 3 S. H. Day 4 J. S. McPhee 5 G. E. McMahon 6 G. K. Stebbings 7 J. P. H. Neale 8 S. J. Lockey 9 W. J. Ribbans 10 C. J. Cook 11 B. Vance 12 S. M. Raleigh 13 C. Roberts 14 M. A. Bennett 15 G. Wang 16 M. Collins 17 Y. P. Pitsiladis 18 A. G. Williams 19
title Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
spellingShingle Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
Shane Heffernan
Liam Kilduff
title_short Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
title_full Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
title_fullStr Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
title_full_unstemmed Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
title_sort Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
972ed9a1dda7a0de20581a0f8350be98
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
972ed9a1dda7a0de20581a0f8350be98_***_Liam Kilduff
author Shane Heffernan
Liam Kilduff
author2 Shane Heffernan
Liam Kilduff
R. M. Erskine
S. H. Day
J. S. McPhee
G. E. McMahon
G. K. Stebbings
J. P. H. Neale
S. J. Lockey
W. J. Ribbans
C. J. Cook
B. Vance
S. M. Raleigh
C. Roberts
M. A. Bennett
G. Wang
M. Collins
Y. P. Pitsiladis
A. G. Williams
format Journal article
container_title Physiological Genomics
container_volume 48
container_issue 3
container_start_page 196
publishDate 2016
institution Swansea University
issn 1094-8341
1531-2267
doi_str_mv 10.1152/physiolgenomics.00107.2015
publisher American Physiological Society
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 0
active_str 0
description We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front five, back row, half backs, centers, and back three. Controls were 710 Caucasian men and women. Real-time PCR of genomic DNA was used to determine genotypes using TaqMan probes and groups were compared using χ2 and odds ratio (OR) statistics. Correction of P values for multiple comparisons was according to Benjamini-Hochberg. There was no difference in ACE I/D genotype between groups. ACTN3 XX genotype tended to be underrepresented in rugby union backs (15.7%) compared with forwards (24.8%, P = 0.06). Interestingly, the 69 back three players (wings and full backs) in rugby union included only six XX genotype individuals (8.7%), with the R allele more common in the back three (68.8%) than controls (58.0%; χ2 = 6.672, P = 0.04; OR = 1.60) and forwards (47.5%; χ2 = 11.768, P = 0.01; OR = 2.00). Association of ACTN3 R577X with playing position in elite rugby union athletes suggests inherited fatigue resistance is more prevalent in forwards, while inherited sprint ability is more prevalent in backs, especially wings and full backs. These results also demonstrate the advantage of focusing genetic studies on a large cohort within a single sport, especially when intrasport positional differences exist, instead of combining several sports with varied demands and athlete characteristics.
published_date 2016-03-01T04:03:19Z
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score 11.037166

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