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No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes
Ioannis D. Papadimitriou,
Sarah J. Lockey,
Sarah Voisin,
Adam J. Herbert,
Fleur Garton,
Peter J. Houweling,
Pawel Cieszczyk,
Agnieszka Maciejewska-Skrendo,
Marek Sawczuk,
Myosotis Massidda,
Carla Maria Calò,
Irina V. Astratenkova,
Anastasia Kouvatsi,
Anastasiya M. Druzhevskaya,
Macsue Jacques,
Ildus I. Ahmetov,
Georgina K. Stebbings,
Shane Heffernan 
,
Stephen H. Day,
Robert Erskine,
Charles Pedlar,
Courtney Kipps,
Kathryn N. North,
Alun G. Williams,
Nir Eynon
,
Stephen H. Day,
Robert Erskine,
Charles Pedlar,
Courtney Kipps,
Kathryn N. North,
Alun G. Williams,
Nir Eynon
BMC Genomics, Volume: 19, Issue: 1
Swansea University Author:
Shane Heffernan
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DOI (Published version): 10.1186/s12864-017-4412-0
Abstract
BackgroundStudies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D gen...
| Published in: | BMC Genomics |
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| ISSN: | 1471-2164 |
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2018
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<?xml version="1.0"?><rfc1807><datestamp>2020-08-07T15:34:36.3963177</datestamp><bib-version>v2</bib-version><id>51437</id><entry>2019-08-16</entry><title>No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes</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></swanseaauthors><date>2019-08-16</date><deptcode>STSC</deptcode><abstract>BackgroundStudies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.MethodsWe collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.ResultsThere was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.ConclusionsThus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.</abstract><type>Journal Article</type><journal>BMC Genomics</journal><volume>19</volume><journalNumber>1</journalNumber><publisher/><issnElectronic>1471-2164</issnElectronic><keywords>ACTN3; ACE; Genomics; Athletic performance; Endurance; Champions</keywords><publishedDay>3</publishedDay><publishedMonth>1</publishedMonth><publishedYear>2018</publishedYear><publishedDate>2018-01-03</publishedDate><doi>10.1186/s12864-017-4412-0</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>2020-08-07T15:34:36.3963177</lastEdited><Created>2019-08-16T10:51:46.4061145</Created><authors><author><firstname>Ioannis D.</firstname><surname>Papadimitriou</surname><order>1</order></author><author><firstname>Sarah J.</firstname><surname>Lockey</surname><order>2</order></author><author><firstname>Sarah</firstname><surname>Voisin</surname><order>3</order></author><author><firstname>Adam J.</firstname><surname>Herbert</surname><order>4</order></author><author><firstname>Fleur</firstname><surname>Garton</surname><order>5</order></author><author><firstname>Peter J.</firstname><surname>Houweling</surname><order>6</order></author><author><firstname>Pawel</firstname><surname>Cieszczyk</surname><order>7</order></author><author><firstname>Agnieszka</firstname><surname>Maciejewska-Skrendo</surname><order>8</order></author><author><firstname>Marek</firstname><surname>Sawczuk</surname><order>9</order></author><author><firstname>Myosotis</firstname><surname>Massidda</surname><order>10</order></author><author><firstname>Carla Maria</firstname><surname>Calò</surname><order>11</order></author><author><firstname>Irina V.</firstname><surname>Astratenkova</surname><order>12</order></author><author><firstname>Anastasia</firstname><surname>Kouvatsi</surname><order>13</order></author><author><firstname>Anastasiya M.</firstname><surname>Druzhevskaya</surname><order>14</order></author><author><firstname>Macsue</firstname><surname>Jacques</surname><order>15</order></author><author><firstname>Ildus I.</firstname><surname>Ahmetov</surname><order>16</order></author><author><firstname>Georgina K.</firstname><surname>Stebbings</surname><order>17</order></author><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>18</order></author><author><firstname>Stephen H.</firstname><surname>Day</surname><order>19</order></author><author><firstname>Robert</firstname><surname>Erskine</surname><order>20</order></author><author><firstname>Charles</firstname><surname>Pedlar</surname><order>21</order></author><author><firstname>Courtney</firstname><surname>Kipps</surname><order>22</order></author><author><firstname>Kathryn N.</firstname><surname>North</surname><order>23</order></author><author><firstname>Alun G.</firstname><surname>Williams</surname><order>24</order></author><author><firstname>Nir</firstname><surname>Eynon</surname><order>25</order></author></authors><documents><document><filename>51437__15152__12cc0634e6ba47c488b415aa96e27596.pdf</filename><originalFilename>papadimitriou2018.pdf</originalFilename><uploaded>2019-09-03T11:10:21.9530000</uploaded><type>Output</type><contentLength>723781</contentLength><contentType>application/pdf</contentType><version>Version of Record</version><cronfaStatus>true</cronfaStatus><documentNotes>This article is distributed under the terms of the Creative Commons Attribution 4.0 International License.</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language><licence>http://creativecommons.org/licenses/by/4.0/</licence></document></documents><OutputDurs/></rfc1807> |
| spelling |
2020-08-07T15:34:36.3963177 v2 51437 2019-08-16 No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 STSC BackgroundStudies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.MethodsWe collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.ResultsThere was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.ConclusionsThus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running. Journal Article BMC Genomics 19 1 1471-2164 ACTN3; ACE; Genomics; Athletic performance; Endurance; Champions 3 1 2018 2018-01-03 10.1186/s12864-017-4412-0 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2020-08-07T15:34:36.3963177 2019-08-16T10:51:46.4061145 Ioannis D. Papadimitriou 1 Sarah J. Lockey 2 Sarah Voisin 3 Adam J. Herbert 4 Fleur Garton 5 Peter J. Houweling 6 Pawel Cieszczyk 7 Agnieszka Maciejewska-Skrendo 8 Marek Sawczuk 9 Myosotis Massidda 10 Carla Maria Calò 11 Irina V. Astratenkova 12 Anastasia Kouvatsi 13 Anastasiya M. Druzhevskaya 14 Macsue Jacques 15 Ildus I. Ahmetov 16 Georgina K. Stebbings 17 Shane Heffernan 0000-0002-3297-9335 18 Stephen H. Day 19 Robert Erskine 20 Charles Pedlar 21 Courtney Kipps 22 Kathryn N. North 23 Alun G. Williams 24 Nir Eynon 25 51437__15152__12cc0634e6ba47c488b415aa96e27596.pdf papadimitriou2018.pdf 2019-09-03T11:10:21.9530000 Output 723781 application/pdf Version of Record true This article is distributed under the terms of the Creative Commons Attribution 4.0 International License. true eng http://creativecommons.org/licenses/by/4.0/ |
| title |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes |
| spellingShingle |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes Shane Heffernan |
| title_short |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes |
| title_full |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes |
| title_fullStr |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes |
| title_full_unstemmed |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes |
| title_sort |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes |
| author_id_str_mv |
72c0b36891dfbec0378c0d0f7916e807 |
| author_id_fullname_str_mv |
72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan |
| author |
Shane Heffernan |
| author2 |
Ioannis D. Papadimitriou Sarah J. Lockey Sarah Voisin Adam J. Herbert Fleur Garton Peter J. Houweling Pawel Cieszczyk Agnieszka Maciejewska-Skrendo Marek Sawczuk Myosotis Massidda Carla Maria Calò Irina V. Astratenkova Anastasia Kouvatsi Anastasiya M. Druzhevskaya Macsue Jacques Ildus I. Ahmetov Georgina K. Stebbings Shane Heffernan Stephen H. Day Robert Erskine Charles Pedlar Courtney Kipps Kathryn N. North Alun G. Williams Nir Eynon |
| format |
Journal article |
| container_title |
BMC Genomics |
| container_volume |
19 |
| container_issue |
1 |
| publishDate |
2018 |
| institution |
Swansea University |
| issn |
1471-2164 |
| doi_str_mv |
10.1186/s12864-017-4412-0 |
| document_store_str |
1 |
| active_str |
0 |
| description |
BackgroundStudies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.MethodsWe collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.ResultsThere was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.ConclusionsThus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running. |
| published_date |
2018-01-03T04:03:19Z |
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1763753275400650752 |
| score |
11.012924 |