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ACTN3 R577x genotype is not associated with elite european caucasian marathon performance
Adam J Herbert,
Alun G Williams,
Sarah J Lockey,
Robert M Erskine,
Shane Heffernan 
,
Charles R Pedlar,
Courtney Kipps,
Stephen H Day,
Georgina K Stebbings
,
Charles R Pedlar,
Courtney Kipps,
Stephen H Day,
Georgina K Stebbings
British Journal of Sports Medicine, Volume: 50, Issue: Suppl 1, Pages: A53.2 - A54
Swansea University Author:
Shane Heffernan
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DOI (Published version): 10.1136/bjsports-2016-097120.94
Abstract
Objectives A common nonsense polymorphism (R577X) in the ACTN3 (α-actinin-3 protein) has been associated with elite athlete status previously. Specifically, the X allele has been positively associated with elite endurance status, however, this remains inconclusive due to contradictory reports within...
| Published in: | British Journal of Sports Medicine |
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| ISSN: | 0306-3674 1473-0480 |
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2016
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa51454 |
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<?xml version="1.0"?><rfc1807><datestamp>2019-09-04T11:35:47.3471152</datestamp><bib-version>v2</bib-version><id>51454</id><entry>2019-08-16</entry><title>ACTN3 R577x genotype is not associated with elite european caucasian 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></swanseaauthors><date>2019-08-16</date><deptcode>STSC</deptcode><abstract>Objectives A common nonsense polymorphism (R577X) in the ACTN3 (α-actinin-3 protein) has been associated with elite athlete status previously. Specifically, the X allele has been positively associated with elite endurance status, however, this remains inconclusive due to contradictory reports within the literature. Thus, the current study aimed to compare ACTN3 R577X genotype and allele frequency distributions in ‘elite’ and ‘sub-elite’ marathon runners with those of a non-athletic, control population and to determine whether marathon personal best time was associated with ACTN3 R577X genotype.Method Four hundred and eighty four elite and sub-elite European Caucasian marathon runners and 554 ethnically matched controls provided a DNA sample from which the ACTN3 R577X polymorphism was genotyped using real-time PCR. Personal best (PB) times were used to determine elite (men < 2 h 30 min, n = 111; women < 3 h 00 min, n = 105) or sub-elite (men 2 h 30 min – 2 h 45 min, n = 189; women 3 h 00 min – 3 h 15 min, n = 79) status. Genotype and allele frequencies were compared between athletes and controls using Chi-square analyses. One-way ANOVAs were implemented to identify any genotype-dependent differences in PB times for men and women, which were subject to correction for multiple comparisons.Results The X allele was ∼3% more frequent in the marathon runners than in non-athlete controls (see Table 1 and Figure 1), although this small difference did not approach statistical significance. There were no significant differences in genotype (χ2 = 3.40; P = 0.182) or allele (χ2 = 2.31; P = 0.128) frequency distributions between athletes (RR = 29.1%, RX = 50.6% XX = 20.2%; R = 54.4%, X = 45.6%) and controls. There were also no differences between elite and sub-elite genotype (P = 0.968, χ2 = 0.66) and allele frequencies (P = 0.916, χ2 = 0.11). Similarly, no differences in genotype or allele frequencies were found between either elite (P = 0.439, χ2 = 1.65; P = 0.265, χ2 = 1.24) or sub-elite (P = 0.254, χ2 = 2.74; P = 0.183, χ2 = 1.77) runners and the control group. Neither were PB times genotype-dependent for either men (P = 0.864) or women (P = 0.966).Conclusion No differences in genotype and allele frequencies were observed between athletes and controls, elite vs sub-elite, nor elite and sub-elite comparisons with the control group. Additionally, there was no genotype-dependent influence on PB time, which further emphasises that the ACTN3 R577X polymorphism does not influence elite endurance athlete status or determine marathon performance in European Caucasian runners. This is congruent with some previous findings and suggests other genetic variants or environmental factors may play a more prominent role in achieving elite endurance athlete status.</abstract><type>Journal Article</type><journal>British Journal of Sports Medicine</journal><volume>50</volume><journalNumber>Suppl 1</journalNumber><paginationStart>A53.2</paginationStart><paginationEnd>A54</paginationEnd><publisher/><issnPrint>0306-3674</issnPrint><issnElectronic>1473-0480</issnElectronic><keywords/><publishedDay>18</publishedDay><publishedMonth>11</publishedMonth><publishedYear>2016</publishedYear><publishedDate>2016-11-18</publishedDate><doi>10.1136/bjsports-2016-097120.94</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>2019-09-04T11:35:47.3471152</lastEdited><Created>2019-08-16T11:39:30.6093635</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>Adam J</firstname><surname>Herbert</surname><order>1</order></author><author><firstname>Alun G</firstname><surname>Williams</surname><order>2</order></author><author><firstname>Sarah J</firstname><surname>Lockey</surname><order>3</order></author><author><firstname>Robert M</firstname><surname>Erskine</surname><order>4</order></author><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>5</order></author><author><firstname>Charles R</firstname><surname>Pedlar</surname><order>6</order></author><author><firstname>Courtney</firstname><surname>Kipps</surname><order>7</order></author><author><firstname>Stephen H</firstname><surname>Day</surname><order>8</order></author><author><firstname>Georgina K</firstname><surname>Stebbings</surname><order>9</order></author></authors><documents/><OutputDurs/></rfc1807> |
| spelling |
2019-09-04T11:35:47.3471152 v2 51454 2019-08-16 ACTN3 R577x genotype is not associated with elite european caucasian marathon performance 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 STSC Objectives A common nonsense polymorphism (R577X) in the ACTN3 (α-actinin-3 protein) has been associated with elite athlete status previously. Specifically, the X allele has been positively associated with elite endurance status, however, this remains inconclusive due to contradictory reports within the literature. Thus, the current study aimed to compare ACTN3 R577X genotype and allele frequency distributions in ‘elite’ and ‘sub-elite’ marathon runners with those of a non-athletic, control population and to determine whether marathon personal best time was associated with ACTN3 R577X genotype.Method Four hundred and eighty four elite and sub-elite European Caucasian marathon runners and 554 ethnically matched controls provided a DNA sample from which the ACTN3 R577X polymorphism was genotyped using real-time PCR. Personal best (PB) times were used to determine elite (men < 2 h 30 min, n = 111; women < 3 h 00 min, n = 105) or sub-elite (men 2 h 30 min – 2 h 45 min, n = 189; women 3 h 00 min – 3 h 15 min, n = 79) status. Genotype and allele frequencies were compared between athletes and controls using Chi-square analyses. One-way ANOVAs were implemented to identify any genotype-dependent differences in PB times for men and women, which were subject to correction for multiple comparisons.Results The X allele was ∼3% more frequent in the marathon runners than in non-athlete controls (see Table 1 and Figure 1), although this small difference did not approach statistical significance. There were no significant differences in genotype (χ2 = 3.40; P = 0.182) or allele (χ2 = 2.31; P = 0.128) frequency distributions between athletes (RR = 29.1%, RX = 50.6% XX = 20.2%; R = 54.4%, X = 45.6%) and controls. There were also no differences between elite and sub-elite genotype (P = 0.968, χ2 = 0.66) and allele frequencies (P = 0.916, χ2 = 0.11). Similarly, no differences in genotype or allele frequencies were found between either elite (P = 0.439, χ2 = 1.65; P = 0.265, χ2 = 1.24) or sub-elite (P = 0.254, χ2 = 2.74; P = 0.183, χ2 = 1.77) runners and the control group. Neither were PB times genotype-dependent for either men (P = 0.864) or women (P = 0.966).Conclusion No differences in genotype and allele frequencies were observed between athletes and controls, elite vs sub-elite, nor elite and sub-elite comparisons with the control group. Additionally, there was no genotype-dependent influence on PB time, which further emphasises that the ACTN3 R577X polymorphism does not influence elite endurance athlete status or determine marathon performance in European Caucasian runners. This is congruent with some previous findings and suggests other genetic variants or environmental factors may play a more prominent role in achieving elite endurance athlete status. Journal Article British Journal of Sports Medicine 50 Suppl 1 A53.2 A54 0306-3674 1473-0480 18 11 2016 2016-11-18 10.1136/bjsports-2016-097120.94 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2019-09-04T11:35:47.3471152 2019-08-16T11:39:30.6093635 Faculty of Science and Engineering School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences Adam J Herbert 1 Alun G Williams 2 Sarah J Lockey 3 Robert M Erskine 4 Shane Heffernan 0000-0002-3297-9335 5 Charles R Pedlar 6 Courtney Kipps 7 Stephen H Day 8 Georgina K Stebbings 9 |
| title |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance |
| spellingShingle |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance Shane Heffernan |
| title_short |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance |
| title_full |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance |
| title_fullStr |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance |
| title_full_unstemmed |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance |
| title_sort |
ACTN3 R577x genotype is not associated with elite european caucasian marathon performance |
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72c0b36891dfbec0378c0d0f7916e807 |
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72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan |
| author |
Shane Heffernan |
| author2 |
Adam J Herbert Alun G Williams Sarah J Lockey Robert M Erskine Shane Heffernan Charles R Pedlar Courtney Kipps Stephen H Day Georgina K Stebbings |
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British Journal of Sports Medicine |
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50 |
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Suppl 1 |
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A53.2 |
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2016 |
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Swansea University |
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0306-3674 1473-0480 |
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10.1136/bjsports-2016-097120.94 |
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Faculty of Science and Engineering |
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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 |
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Objectives A common nonsense polymorphism (R577X) in the ACTN3 (α-actinin-3 protein) has been associated with elite athlete status previously. Specifically, the X allele has been positively associated with elite endurance status, however, this remains inconclusive due to contradictory reports within the literature. Thus, the current study aimed to compare ACTN3 R577X genotype and allele frequency distributions in ‘elite’ and ‘sub-elite’ marathon runners with those of a non-athletic, control population and to determine whether marathon personal best time was associated with ACTN3 R577X genotype.Method Four hundred and eighty four elite and sub-elite European Caucasian marathon runners and 554 ethnically matched controls provided a DNA sample from which the ACTN3 R577X polymorphism was genotyped using real-time PCR. Personal best (PB) times were used to determine elite (men < 2 h 30 min, n = 111; women < 3 h 00 min, n = 105) or sub-elite (men 2 h 30 min – 2 h 45 min, n = 189; women 3 h 00 min – 3 h 15 min, n = 79) status. Genotype and allele frequencies were compared between athletes and controls using Chi-square analyses. One-way ANOVAs were implemented to identify any genotype-dependent differences in PB times for men and women, which were subject to correction for multiple comparisons.Results The X allele was ∼3% more frequent in the marathon runners than in non-athlete controls (see Table 1 and Figure 1), although this small difference did not approach statistical significance. There were no significant differences in genotype (χ2 = 3.40; P = 0.182) or allele (χ2 = 2.31; P = 0.128) frequency distributions between athletes (RR = 29.1%, RX = 50.6% XX = 20.2%; R = 54.4%, X = 45.6%) and controls. There were also no differences between elite and sub-elite genotype (P = 0.968, χ2 = 0.66) and allele frequencies (P = 0.916, χ2 = 0.11). Similarly, no differences in genotype or allele frequencies were found between either elite (P = 0.439, χ2 = 1.65; P = 0.265, χ2 = 1.24) or sub-elite (P = 0.254, χ2 = 2.74; P = 0.183, χ2 = 1.77) runners and the control group. Neither were PB times genotype-dependent for either men (P = 0.864) or women (P = 0.966).Conclusion No differences in genotype and allele frequencies were observed between athletes and controls, elite vs sub-elite, nor elite and sub-elite comparisons with the control group. Additionally, there was no genotype-dependent influence on PB time, which further emphasises that the ACTN3 R577X polymorphism does not influence elite endurance athlete status or determine marathon performance in European Caucasian runners. This is congruent with some previous findings and suggests other genetic variants or environmental factors may play a more prominent role in achieving elite endurance athlete status. |
| published_date |
2016-11-18T04:03:20Z |
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1763753277134995456 |
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11.037166 |