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Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes

Shane Heffernan Orcid Logo, Liam Kilduff, Robert Erskine, Stephen Day, Georgina Stebbings, Christian Cook, Alun Williams

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

Swansea University Author: Shane Heffernan Orcid Logo

Abstract

The APOE ε4 allele is a candidate genetic marker for risk and severity of mild traumatic brain injury (mTBI) including sport-related concussion. ε4 allele carriers experience reduced motor rehabilitation outcomes, poorer neurocognitive outcomes, increased cognitive impairments, amnesia and memory de...

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Published in: 23rd European Congress of Sports Science
Published: 2018
URI: https://cronfa.swan.ac.uk/Record/cronfa51449
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2019-09-02T15:54:15.2937346</datestamp><bib-version>v2</bib-version><id>51449</id><entry>2019-08-16</entry><title>Apolipoprotein E &#x3B5;4 allele is not associated with elite rugby status but is present in 30% of 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>The APOE &#x3B5;4 allele is a candidate genetic marker for risk and severity of mild traumatic brain injury (mTBI) including sport-related concussion. &#x3B5;4 allele carriers experience reduced motor rehabilitation outcomes, poorer neurocognitive outcomes, increased cognitive impairments, amnesia and memory defects following mTBI. Concussion injury (mTBI) rates in elite rugby players are substantial and, consequently, elevated risk and severity of mTBI due to carriage of the &#x3B5;4 risk allele may be detrimental to both the short-term and long-term health of elite players and reduce their likelihood of career success. Therefore, we investigated APOE &#x3B5;2/&#x3B5;3/&#x3B5;4 of athletes at the elite level of competitive rugby. METHODS: Genomic DNA was collected from 1006 Caucasian participants, comprising 523 elite rugby athletes and 483 non-athlete controls (RugbyGene study). All samples were genotyped for the APOE &#x3B5;2/&#x3B5;3/&#x3B5;4 variants (rs429358 and rs7412) using real-time PCR. Pearson&#x2019;s Chi-square (&#x3C7;2) tests were used to compare genotype frequencies between groups. RESULTS: No genotype differences (P &gt; 0.05) were identified between controls (&#x3B5;4/&#x3B5;4 = 2.3%) and either rugby union (&#x3B5;4/&#x3B5;4 = 3.7%) or rugby league (&#x3B5;4/&#x3B5;4 = 1.3%) athletes. Similarly, when the presence of the &#x3B5;4 allele (&#x3B5;4+) was compared to non-carriers, no allelic differences were observed between controls (&#x3B5;4+ = 28%) and either rugby union (&#x3B5;4+ = 29%) or rugby league (&#x3B5;4+ = 33%). Rugby union athletes with international competitive experience showed an underrepresentation of the &#x3B5;4/&#x3B5;4 genotype compared to those without international experience (2.6% versus 4.7%, P = 0.01), but exhibited a similar frequency to controls (2.3%). CONCLUSION: These results suggest that APOE &#x3B5;4 plays little or no role in the likelihood of a rugby athlete achieving elite competitive status. However, our data suggest that ~30% of rugby athletes could be at greater risk of poor recovery from concussion due to carriage of the &#x3B5;4 APOE allele and this warrants research to establish if previously identified APOE &#x3B5;4-mTBI associated outcomes exist in elite rugby.</abstract><type>Conference Paper/Proceeding/Abstract</type><journal>23rd European Congress of Sports Science</journal><paginationStart>489</paginationStart><publisher/><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>2019-09-02T15:54:15.2937346</lastEdited><Created>2019-08-16T11:21:43.3459731</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><order>2</order></author><author><firstname>Robert</firstname><surname>Erskine</surname><order>3</order></author><author><firstname>Stephen</firstname><surname>Day</surname><order>4</order></author><author><firstname>Georgina</firstname><surname>Stebbings</surname><order>5</order></author><author><firstname>Christian</firstname><surname>Cook</surname><order>6</order></author><author><firstname>Alun</firstname><surname>Williams</surname><order>7</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2019-09-02T15:54:15.2937346 v2 51449 2019-08-16 Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 STSC The APOE ε4 allele is a candidate genetic marker for risk and severity of mild traumatic brain injury (mTBI) including sport-related concussion. ε4 allele carriers experience reduced motor rehabilitation outcomes, poorer neurocognitive outcomes, increased cognitive impairments, amnesia and memory defects following mTBI. Concussion injury (mTBI) rates in elite rugby players are substantial and, consequently, elevated risk and severity of mTBI due to carriage of the ε4 risk allele may be detrimental to both the short-term and long-term health of elite players and reduce their likelihood of career success. Therefore, we investigated APOE ε2/ε3/ε4 of athletes at the elite level of competitive rugby. METHODS: Genomic DNA was collected from 1006 Caucasian participants, comprising 523 elite rugby athletes and 483 non-athlete controls (RugbyGene study). All samples were genotyped for the APOE ε2/ε3/ε4 variants (rs429358 and rs7412) using real-time PCR. Pearson’s Chi-square (χ2) tests were used to compare genotype frequencies between groups. RESULTS: No genotype differences (P > 0.05) were identified between controls (ε4/ε4 = 2.3%) and either rugby union (ε4/ε4 = 3.7%) or rugby league (ε4/ε4 = 1.3%) athletes. Similarly, when the presence of the ε4 allele (ε4+) was compared to non-carriers, no allelic differences were observed between controls (ε4+ = 28%) and either rugby union (ε4+ = 29%) or rugby league (ε4+ = 33%). Rugby union athletes with international competitive experience showed an underrepresentation of the ε4/ε4 genotype compared to those without international experience (2.6% versus 4.7%, P = 0.01), but exhibited a similar frequency to controls (2.3%). CONCLUSION: These results suggest that APOE ε4 plays little or no role in the likelihood of a rugby athlete achieving elite competitive status. However, our data suggest that ~30% of rugby athletes could be at greater risk of poor recovery from concussion due to carriage of the ε4 APOE allele and this warrants research to establish if previously identified APOE ε4-mTBI associated outcomes exist in elite rugby. Conference Paper/Proceeding/Abstract 23rd European Congress of Sports Science 489 31 12 2018 2018-12-31 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2019-09-02T15:54:15.2937346 2019-08-16T11:21:43.3459731 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 2 Robert Erskine 3 Stephen Day 4 Georgina Stebbings 5 Christian Cook 6 Alun Williams 7
title Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
spellingShingle Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
Shane Heffernan
title_short Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
title_full Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
title_fullStr Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
title_full_unstemmed Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
title_sort Apolipoprotein E ε4 allele is not associated with elite rugby status but is present in 30% of athletes
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
author Shane Heffernan
author2 Shane Heffernan
Liam Kilduff
Robert Erskine
Stephen Day
Georgina Stebbings
Christian Cook
Alun Williams
format Conference Paper/Proceeding/Abstract
container_title 23rd European Congress of Sports Science
container_start_page 489
publishDate 2018
institution Swansea University
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 The APOE ε4 allele is a candidate genetic marker for risk and severity of mild traumatic brain injury (mTBI) including sport-related concussion. ε4 allele carriers experience reduced motor rehabilitation outcomes, poorer neurocognitive outcomes, increased cognitive impairments, amnesia and memory defects following mTBI. Concussion injury (mTBI) rates in elite rugby players are substantial and, consequently, elevated risk and severity of mTBI due to carriage of the ε4 risk allele may be detrimental to both the short-term and long-term health of elite players and reduce their likelihood of career success. Therefore, we investigated APOE ε2/ε3/ε4 of athletes at the elite level of competitive rugby. METHODS: Genomic DNA was collected from 1006 Caucasian participants, comprising 523 elite rugby athletes and 483 non-athlete controls (RugbyGene study). All samples were genotyped for the APOE ε2/ε3/ε4 variants (rs429358 and rs7412) using real-time PCR. Pearson’s Chi-square (χ2) tests were used to compare genotype frequencies between groups. RESULTS: No genotype differences (P > 0.05) were identified between controls (ε4/ε4 = 2.3%) and either rugby union (ε4/ε4 = 3.7%) or rugby league (ε4/ε4 = 1.3%) athletes. Similarly, when the presence of the ε4 allele (ε4+) was compared to non-carriers, no allelic differences were observed between controls (ε4+ = 28%) and either rugby union (ε4+ = 29%) or rugby league (ε4+ = 33%). Rugby union athletes with international competitive experience showed an underrepresentation of the ε4/ε4 genotype compared to those without international experience (2.6% versus 4.7%, P = 0.01), but exhibited a similar frequency to controls (2.3%). CONCLUSION: These results suggest that APOE ε4 plays little or no role in the likelihood of a rugby athlete achieving elite competitive status. However, our data suggest that ~30% of rugby athletes could be at greater risk of poor recovery from concussion due to carriage of the ε4 APOE allele and this warrants research to establish if previously identified APOE ε4-mTBI associated outcomes exist in elite rugby.
published_date 2018-12-31T04:03:20Z
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score 11.036706

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