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Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status

Mark Antrobus, Jon Brazier, Adam Herbert, Georgina Stebbings, Stephen Day, Shane Heffernan Orcid Logo, Alun Williams

23rd European Congress of Sports Science, Start page: 489

Swansea University Author: Shane Heffernan Orcid Logo

Abstract

INTRODUCTION:Incidence and outcomes of concussions have been hypothesised to be genetically influenced. The APOE Promoter G219T (rs405509) polymorphism has been associated with differential promoter activity and unfavourable outcomes after traumatic brain injury. The TT genotype is associated with a...

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Published in: 23rd European Congress of Sports Science
Published: Dublin, Ireland 23rd Annual Congress of the European College of Sports Science 2018
URI: https://cronfa.swan.ac.uk/Record/cronfa51450
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2019-09-02T16:00:49.0834773</datestamp><bib-version>v2</bib-version><id>51450</id><entry>2019-08-16</entry><title>Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status</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>INTRODUCTION:Incidence and outcomes of concussions have been hypothesised to be genetically influenced. The APOE Promoter G219T (rs405509) polymorphism has been associated with differential promoter activity and unfavourable outcomes after traumatic brain injury. The TT genotype is associated with a 3-fold greater risk of multiple concussions. The TT genotype of MAPT (rs10445337) has also been associated with poorer outcomes after concussion. Rugby has one of the highest incidences of concussion in sport, so it was hypothesised that APOE Promoter TT and MAPT TT genotypes would be less prevalent in elite rugby athletes because those genotypes, previously associated with increased risk, would be less compatible with achieving elite athlete status.METHODS:Participants were from the RugbyGene project, comprising elite Caucasian male rugby athletes (n = 528; mean (standard deviation) height 1.85 (0.07) m, mass 101 (14) kg, age 29 (7) yr), including 420 rugby union (RU) athletes that for some analyses were divided into forwards and backs and 108 rugby league (RL) athletes. Non-athletes were 592 Caucasian men and women (57% male, height 1.72 (0.10) m, mass 74 (14) kg, age 31 (7) yr). PCR of genomic DNA was used to determine genotypes using TaqMan probes, then groups were compared using &#x3C7;2 and odds ratio (OR) statistics.RESULTS:All genotype data were in Hardy-Weinberg equilibrium. For MAPT (rs10445337), the risk genotype (TT) was underrepresented in rugby athletes (60%) compared to non-athletes (66%), CT more common in rugby athletes (34%) than non-athletes (29%) and little difference in CC genotype frequencies (&#x3C7;2 = 7.092, P = 0.029; TT genotype frequency OR = 0.80, 95% confidence intervals (CI) = 0.62-1.02). There were no differences in MAPT (rs10445337) genotype frequencies between RU forwards and backs. For APOE Promoter G219T (rs405509), there were no differences in genotype frequencies between all athletes (RU and RL) and non-athletes (27% TT genotype in players and non-athletes), nor between RU forwards and backs.CONCLUSION:The MAPT (rs10445337) TT genotype is 6% less common in elite rugby athletes than non-athletes. Therefore, carrying at least one rs10445337 C allele appears to increase the probability of sustained career success in the high-risk concussion environment of elite rugby, perhaps via a greater ability to recover from concussions.</abstract><type>Conference Paper/Proceeding/Abstract</type><journal>23rd European Congress of Sports Science</journal><paginationStart>489</paginationStart><publisher>23rd Annual Congress of the European College of Sports Science</publisher><placeOfPublication>Dublin, Ireland</placeOfPublication><keywords/><publishedDay>31</publishedDay><publishedMonth>12</publishedMonth><publishedYear>2018</publishedYear><publishedDate>2018-12-31</publishedDate><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>2019-09-02T16:00:49.0834773</lastEdited><Created>2019-08-16T11:24:02.3837100</Created><path><level id="1">College of Engineering</level><level id="2">Engineering</level></path><authors><author><firstname>Mark</firstname><surname>Antrobus</surname><order>1</order></author><author><firstname>Jon</firstname><surname>Brazier</surname><order>2</order></author><author><firstname>Adam</firstname><surname>Herbert</surname><order>3</order></author><author><firstname>Georgina</firstname><surname>Stebbings</surname><order>4</order></author><author><firstname>Stephen</firstname><surname>Day</surname><order>5</order></author><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>6</order></author><author><firstname>Alun</firstname><surname>Williams</surname><order>7</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2019-09-02T16:00:49.0834773 v2 51450 2019-08-16 Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 STSC INTRODUCTION:Incidence and outcomes of concussions have been hypothesised to be genetically influenced. The APOE Promoter G219T (rs405509) polymorphism has been associated with differential promoter activity and unfavourable outcomes after traumatic brain injury. The TT genotype is associated with a 3-fold greater risk of multiple concussions. The TT genotype of MAPT (rs10445337) has also been associated with poorer outcomes after concussion. Rugby has one of the highest incidences of concussion in sport, so it was hypothesised that APOE Promoter TT and MAPT TT genotypes would be less prevalent in elite rugby athletes because those genotypes, previously associated with increased risk, would be less compatible with achieving elite athlete status.METHODS:Participants were from the RugbyGene project, comprising elite Caucasian male rugby athletes (n = 528; mean (standard deviation) height 1.85 (0.07) m, mass 101 (14) kg, age 29 (7) yr), including 420 rugby union (RU) athletes that for some analyses were divided into forwards and backs and 108 rugby league (RL) athletes. Non-athletes were 592 Caucasian men and women (57% male, height 1.72 (0.10) m, mass 74 (14) kg, age 31 (7) yr). PCR of genomic DNA was used to determine genotypes using TaqMan probes, then groups were compared using χ2 and odds ratio (OR) statistics.RESULTS:All genotype data were in Hardy-Weinberg equilibrium. For MAPT (rs10445337), the risk genotype (TT) was underrepresented in rugby athletes (60%) compared to non-athletes (66%), CT more common in rugby athletes (34%) than non-athletes (29%) and little difference in CC genotype frequencies (χ2 = 7.092, P = 0.029; TT genotype frequency OR = 0.80, 95% confidence intervals (CI) = 0.62-1.02). There were no differences in MAPT (rs10445337) genotype frequencies between RU forwards and backs. For APOE Promoter G219T (rs405509), there were no differences in genotype frequencies between all athletes (RU and RL) and non-athletes (27% TT genotype in players and non-athletes), nor between RU forwards and backs.CONCLUSION:The MAPT (rs10445337) TT genotype is 6% less common in elite rugby athletes than non-athletes. Therefore, carrying at least one rs10445337 C allele appears to increase the probability of sustained career success in the high-risk concussion environment of elite rugby, perhaps via a greater ability to recover from concussions. Conference Paper/Proceeding/Abstract 23rd European Congress of Sports Science 489 23rd Annual Congress of the European College of Sports Science Dublin, Ireland 31 12 2018 2018-12-31 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2019-09-02T16:00:49.0834773 2019-08-16T11:24:02.3837100 College of Engineering Engineering Mark Antrobus 1 Jon Brazier 2 Adam Herbert 3 Georgina Stebbings 4 Stephen Day 5 Shane Heffernan 0000-0002-3297-9335 6 Alun Williams 7
title Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
spellingShingle Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
Shane Heffernan
title_short Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
title_full Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
title_fullStr Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
title_full_unstemmed Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
title_sort Associations between MAPT polymorphism but not APOE promoter and elite rugby athlete status
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
author Shane Heffernan
author2 Mark Antrobus
Jon Brazier
Adam Herbert
Georgina Stebbings
Stephen Day
Shane Heffernan
Alun Williams
format Conference Paper/Proceeding/Abstract
container_title 23rd European Congress of Sports Science
container_start_page 489
publishDate 2018
institution Swansea University
publisher 23rd Annual Congress of the European College of Sports Science
college_str College of Engineering
hierarchytype
hierarchy_top_id collegeofengineering
hierarchy_top_title College of Engineering
hierarchy_parent_id collegeofengineering
hierarchy_parent_title College of Engineering
department_str Engineering{{{_:::_}}}College of Engineering{{{_:::_}}}Engineering
document_store_str 0
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description INTRODUCTION:Incidence and outcomes of concussions have been hypothesised to be genetically influenced. The APOE Promoter G219T (rs405509) polymorphism has been associated with differential promoter activity and unfavourable outcomes after traumatic brain injury. The TT genotype is associated with a 3-fold greater risk of multiple concussions. The TT genotype of MAPT (rs10445337) has also been associated with poorer outcomes after concussion. Rugby has one of the highest incidences of concussion in sport, so it was hypothesised that APOE Promoter TT and MAPT TT genotypes would be less prevalent in elite rugby athletes because those genotypes, previously associated with increased risk, would be less compatible with achieving elite athlete status.METHODS:Participants were from the RugbyGene project, comprising elite Caucasian male rugby athletes (n = 528; mean (standard deviation) height 1.85 (0.07) m, mass 101 (14) kg, age 29 (7) yr), including 420 rugby union (RU) athletes that for some analyses were divided into forwards and backs and 108 rugby league (RL) athletes. Non-athletes were 592 Caucasian men and women (57% male, height 1.72 (0.10) m, mass 74 (14) kg, age 31 (7) yr). PCR of genomic DNA was used to determine genotypes using TaqMan probes, then groups were compared using χ2 and odds ratio (OR) statistics.RESULTS:All genotype data were in Hardy-Weinberg equilibrium. For MAPT (rs10445337), the risk genotype (TT) was underrepresented in rugby athletes (60%) compared to non-athletes (66%), CT more common in rugby athletes (34%) than non-athletes (29%) and little difference in CC genotype frequencies (χ2 = 7.092, P = 0.029; TT genotype frequency OR = 0.80, 95% confidence intervals (CI) = 0.62-1.02). There were no differences in MAPT (rs10445337) genotype frequencies between RU forwards and backs. For APOE Promoter G219T (rs405509), there were no differences in genotype frequencies between all athletes (RU and RL) and non-athletes (27% TT genotype in players and non-athletes), nor between RU forwards and backs.CONCLUSION:The MAPT (rs10445337) TT genotype is 6% less common in elite rugby athletes than non-athletes. Therefore, carrying at least one rs10445337 C allele appears to increase the probability of sustained career success in the high-risk concussion environment of elite rugby, perhaps via a greater ability to recover from concussions.
published_date 2018-12-31T04:04:14Z
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