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Conference Paper/Proceeding/Abstract 753 views

Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code

Jon Brazier, Mark Antrobus, 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: Achilles tendon pathology and anterior cruciate ligament rupture are multifactorial conditions for which genetic risk factors have been identified. Single nucleotide polymorphisms (SNPs) within the MMP3 (rs591058, rs679620, rs650108) and TIMP2 (rs4789932) genes have previously been ass...

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Published in: 23rd European Congress of Sports Science
Published: 2018
URI: https://cronfa.swan.ac.uk/Record/cronfa51452
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2019-09-02T16:03:14.5013371</datestamp><bib-version>v2</bib-version><id>51452</id><entry>2019-08-16</entry><title>Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code</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: Achilles tendon pathology and anterior cruciate ligament rupture are multifactorial conditions for which genetic risk factors have been identified. Single nucleotide polymorphisms (SNPs) within the MMP3 (rs591058, rs679620, rs650108) and TIMP2 (rs4789932) genes have previously been associated with tendon and ligament pathologies. Although not entirely clear, prior literature indicates the risk alleles for Achilles tendon pathology as T (rs591058), G (rs679620) and A (rs650108) for MMP3. However, prior evidence regarding TIMP2 is equivocal. MMP3 is considered an essential regulator of matrix degradation and remodelling within diseased and normal musculoskeletal soft tissues. TIMP2 maintains homeostasis in the extracellular matrix in part by inhibiting MMP function. Given the high incidence and severity of tendon and ligament injuries in elite rugby athletes, we hypothesised that the aforementioned SNPs would be associated with career success. Methods: Participants from the RugbyGene project were elite Caucasian male rugby athletes (n = 566; 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 120 rugby league (RL) athletes. Non-athletes were 589 Caucasian men and women (n = 589, 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 &#x3A7;2 and odds ratio (OR) statistics. Results: As hypothesized, the MMP3 rs591058 risk genotype (TT) was less frequent in rugby athletes (28%) compared to non-athletes (33%) (&#x3A7;2 = 7.265, P = 0.026; OR = 1.18, 95% confidence intervals (CI) = 0.86-1.63). No differences were found for MMP3 rs679620, rs650108 or TIMP2 rs4789932 between rugby athletes and non-athletes. When RL athletes were compared to non-athletes, the risk genotype (TT) of MMP3 rs591058 was underrepresented in RL athletes (19%) compared to non-athletes (33%). The MMP3 rs679620 &#x2018;protective&#x2019; allele (C) was more frequent in RL athletes (55%) compared to non-athletes (48%) (OR = 1.3, 95% CI = 0.98-1.74). However, for MMP3 rs650108 the &#x2018;risk&#x2019; allele (A) was overrepresented in RL athletes (32%) compared to non-athletes (26%). There were no genotype differences for any gene variant between RU athletes and non-athletes. The &#x2018;risk&#x2019; allele (T) of the MMP3 rs679629 polymorphism and the &#x2018;protective&#x2019; allele (G) of the MMP3 rs650108 polymorphism were less common in RL (45%, 68%, respectively) than RU athletes (54%, 76%, respectively). Conclusion: We provide evidence for elite rugby athletes possessing a protective genetic profile regarding tendon and ligament injury risk. Notably, a less frequent rs591058 TT genotype in athletes suggests a lower risk of injury could therefore enhance career success in rugby. Furthermore, RL players appear to have differing genetic characteristics compared to their RU counterparts, which might reflect some differences in physiological demands between codes.</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>2019-09-02T16:03:14.5013371</lastEdited><Created>2019-08-16T11:33:59.4464683</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>Jon</firstname><surname>Brazier</surname><order>1</order></author><author><firstname>Mark</firstname><surname>Antrobus</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 2019-09-02T16:03:14.5013371 v2 51452 2019-08-16 Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 STSC Introduction: Achilles tendon pathology and anterior cruciate ligament rupture are multifactorial conditions for which genetic risk factors have been identified. Single nucleotide polymorphisms (SNPs) within the MMP3 (rs591058, rs679620, rs650108) and TIMP2 (rs4789932) genes have previously been associated with tendon and ligament pathologies. Although not entirely clear, prior literature indicates the risk alleles for Achilles tendon pathology as T (rs591058), G (rs679620) and A (rs650108) for MMP3. However, prior evidence regarding TIMP2 is equivocal. MMP3 is considered an essential regulator of matrix degradation and remodelling within diseased and normal musculoskeletal soft tissues. TIMP2 maintains homeostasis in the extracellular matrix in part by inhibiting MMP function. Given the high incidence and severity of tendon and ligament injuries in elite rugby athletes, we hypothesised that the aforementioned SNPs would be associated with career success. Methods: Participants from the RugbyGene project were elite Caucasian male rugby athletes (n = 566; 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 120 rugby league (RL) athletes. Non-athletes were 589 Caucasian men and women (n = 589, 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: As hypothesized, the MMP3 rs591058 risk genotype (TT) was less frequent in rugby athletes (28%) compared to non-athletes (33%) (Χ2 = 7.265, P = 0.026; OR = 1.18, 95% confidence intervals (CI) = 0.86-1.63). No differences were found for MMP3 rs679620, rs650108 or TIMP2 rs4789932 between rugby athletes and non-athletes. When RL athletes were compared to non-athletes, the risk genotype (TT) of MMP3 rs591058 was underrepresented in RL athletes (19%) compared to non-athletes (33%). The MMP3 rs679620 ‘protective’ allele (C) was more frequent in RL athletes (55%) compared to non-athletes (48%) (OR = 1.3, 95% CI = 0.98-1.74). However, for MMP3 rs650108 the ‘risk’ allele (A) was overrepresented in RL athletes (32%) compared to non-athletes (26%). There were no genotype differences for any gene variant between RU athletes and non-athletes. The ‘risk’ allele (T) of the MMP3 rs679629 polymorphism and the ‘protective’ allele (G) of the MMP3 rs650108 polymorphism were less common in RL (45%, 68%, respectively) than RU athletes (54%, 76%, respectively). Conclusion: We provide evidence for elite rugby athletes possessing a protective genetic profile regarding tendon and ligament injury risk. Notably, a less frequent rs591058 TT genotype in athletes suggests a lower risk of injury could therefore enhance career success in rugby. Furthermore, RL players appear to have differing genetic characteristics compared to their RU counterparts, which might reflect some differences in physiological demands between codes. 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 2019-09-02T16:03:14.5013371 2019-08-16T11:33:59.4464683 Faculty of Science and Engineering School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences Jon Brazier 1 Mark Antrobus 2 Adam Herbert 3 Georgina Stebbings 4 Stephen Day 5 Shane Heffernan 0000-0002-3297-9335 6 Alun Williams 7
title Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
spellingShingle Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
Shane Heffernan
title_short Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
title_full Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
title_fullStr Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
title_full_unstemmed Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
title_sort Association of MMP3 but not TIMP2 gene variants with elite rugby player status and rugby code
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
author Shane Heffernan
author2 Jon Brazier
Mark Antrobus
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
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 Introduction: Achilles tendon pathology and anterior cruciate ligament rupture are multifactorial conditions for which genetic risk factors have been identified. Single nucleotide polymorphisms (SNPs) within the MMP3 (rs591058, rs679620, rs650108) and TIMP2 (rs4789932) genes have previously been associated with tendon and ligament pathologies. Although not entirely clear, prior literature indicates the risk alleles for Achilles tendon pathology as T (rs591058), G (rs679620) and A (rs650108) for MMP3. However, prior evidence regarding TIMP2 is equivocal. MMP3 is considered an essential regulator of matrix degradation and remodelling within diseased and normal musculoskeletal soft tissues. TIMP2 maintains homeostasis in the extracellular matrix in part by inhibiting MMP function. Given the high incidence and severity of tendon and ligament injuries in elite rugby athletes, we hypothesised that the aforementioned SNPs would be associated with career success. Methods: Participants from the RugbyGene project were elite Caucasian male rugby athletes (n = 566; 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 120 rugby league (RL) athletes. Non-athletes were 589 Caucasian men and women (n = 589, 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: As hypothesized, the MMP3 rs591058 risk genotype (TT) was less frequent in rugby athletes (28%) compared to non-athletes (33%) (Χ2 = 7.265, P = 0.026; OR = 1.18, 95% confidence intervals (CI) = 0.86-1.63). No differences were found for MMP3 rs679620, rs650108 or TIMP2 rs4789932 between rugby athletes and non-athletes. When RL athletes were compared to non-athletes, the risk genotype (TT) of MMP3 rs591058 was underrepresented in RL athletes (19%) compared to non-athletes (33%). The MMP3 rs679620 ‘protective’ allele (C) was more frequent in RL athletes (55%) compared to non-athletes (48%) (OR = 1.3, 95% CI = 0.98-1.74). However, for MMP3 rs650108 the ‘risk’ allele (A) was overrepresented in RL athletes (32%) compared to non-athletes (26%). There were no genotype differences for any gene variant between RU athletes and non-athletes. The ‘risk’ allele (T) of the MMP3 rs679629 polymorphism and the ‘protective’ allele (G) of the MMP3 rs650108 polymorphism were less common in RL (45%, 68%, respectively) than RU athletes (54%, 76%, respectively). Conclusion: We provide evidence for elite rugby athletes possessing a protective genetic profile regarding tendon and ligament injury risk. Notably, a less frequent rs591058 TT genotype in athletes suggests a lower risk of injury could therefore enhance career success in rugby. Furthermore, RL players appear to have differing genetic characteristics compared to their RU counterparts, which might reflect some differences in physiological demands between codes.
published_date 2018-12-31T04:03:20Z
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score 11.036706

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