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Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners

Georgina K Stebbings, Alun G Williams, Adam J Herbert, Sarah J Lockey, Shane Heffernan Orcid Logo, Robert M Erskine, Christopher I Morse, Stephen H Day

British Journal of Sports Medicine, Volume: 50, Issue: Suppl 1, Pages: A55 - A56

Swansea University Author: Shane Heffernan Orcid Logo

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DOI (Published version): 10.1136/bjsports-2016-097120.96

Abstract

Objectives The titin gene (TTN) encodes the largest described protein to date and, due to its size, provides a molecular blueprint for the organisation and assembly of the muscle sarcomere. Differences in sarcomere length, due to the expression of different titin isoforms, have been observed previou...

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Published in: British Journal of Sports Medicine
ISSN: 0306-3674 1473-0480
Published: 2016
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URI: https://cronfa.swan.ac.uk/Record/cronfa51453
first_indexed 2019-08-16T15:30:35Z
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Differences in sarcomere length, due to the expression of different titin isoforms, have been observed previously and may influence muscle fascicle length, which could provide an advantage for running performance. Thus, the aim of this study was to investigate if the TTN rs10497520 polymorphism was associated with muscle fascicle length in recreationally active men and marathon personal best time in elite male marathon runners, and to investigate any differences in genotype frequency between RA and MR.Methods The sample comprised 278 healthy, unrelated Caucasian men who all gave written consent to take part. Participants were categorised as either recreationally active [RA; n = 137; age = 20.7 (2.7) yr; height = 1.79 (0.06) m; mass = 75.3 (10.1) kg] or marathon runners [MR; n = 141; age = 34.9 (7.8) yr; height = 1.79 (0.07) m; mass = 66.5 (6.7) kg]. MR comprised Olympic, international and national level athletes, who had all achieved marathon personal best times under 2 hr 36 mins. Resting fascicle length of the vastus lateralis muscle was assessed in vivo using B-mode ultrasonography at 50% of muscle length in RA only. All participants provided either a whole blood, saliva or buccal cell sample, from which DNA was isolated and genotyped using real-time polymerase chain reaction. Independent samples t-tests were used to determine any genotype-dependent differences in fascicle length in RA and marathon personal best time in MR. Pearson&#x2019;s chi-square tests were conducted to compare genotype frequencies between RA and MR.Results Vastus lateralis fascicle length was 10.4% longer in CC homozygotes than CT heterozygotes (P = 0.003) in RA. In the absence of any TT homozygotes, reflective of the low T-allele frequency within Caucasian populations, it is unclear if fascicle length for this group would have been smaller still. No differences in genotype frequency between the RA and MR groups were observed (P = 0.500), however, within the MR group the T-allele carriers demonstrated marathon personal best times 2 min 25 s faster than CC homozygotes (P = 0.020).Conclusions These results suggest that the T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men.</abstract><type>Journal Article</type><journal>British Journal of Sports Medicine</journal><volume>50</volume><journalNumber>Suppl 1</journalNumber><paginationStart>A55</paginationStart><paginationEnd>A56</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-2016-097120.96</doi><url/><notes/><college>COLLEGE NANME</college><department>Engineering and Applied Sciences School</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>EAAS</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2019-09-04T11:31:42.7000709</lastEdited><Created>2019-08-16T11:37:43.5240946</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>Georgina K</firstname><surname>Stebbings</surname><order>1</order></author><author><firstname>Alun G</firstname><surname>Williams</surname><order>2</order></author><author><firstname>Adam J</firstname><surname>Herbert</surname><order>3</order></author><author><firstname>Sarah J</firstname><surname>Lockey</surname><order>4</order></author><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>5</order></author><author><firstname>Robert M</firstname><surname>Erskine</surname><order>6</order></author><author><firstname>Christopher I</firstname><surname>Morse</surname><order>7</order></author><author><firstname>Stephen H</firstname><surname>Day</surname><order>8</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2019-09-04T11:31:42.7000709 v2 51453 2019-08-16 Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 EAAS Objectives The titin gene (TTN) encodes the largest described protein to date and, due to its size, provides a molecular blueprint for the organisation and assembly of the muscle sarcomere. Differences in sarcomere length, due to the expression of different titin isoforms, have been observed previously and may influence muscle fascicle length, which could provide an advantage for running performance. Thus, the aim of this study was to investigate if the TTN rs10497520 polymorphism was associated with muscle fascicle length in recreationally active men and marathon personal best time in elite male marathon runners, and to investigate any differences in genotype frequency between RA and MR.Methods The sample comprised 278 healthy, unrelated Caucasian men who all gave written consent to take part. Participants were categorised as either recreationally active [RA; n = 137; age = 20.7 (2.7) yr; height = 1.79 (0.06) m; mass = 75.3 (10.1) kg] or marathon runners [MR; n = 141; age = 34.9 (7.8) yr; height = 1.79 (0.07) m; mass = 66.5 (6.7) kg]. MR comprised Olympic, international and national level athletes, who had all achieved marathon personal best times under 2 hr 36 mins. Resting fascicle length of the vastus lateralis muscle was assessed in vivo using B-mode ultrasonography at 50% of muscle length in RA only. All participants provided either a whole blood, saliva or buccal cell sample, from which DNA was isolated and genotyped using real-time polymerase chain reaction. Independent samples t-tests were used to determine any genotype-dependent differences in fascicle length in RA and marathon personal best time in MR. Pearson’s chi-square tests were conducted to compare genotype frequencies between RA and MR.Results Vastus lateralis fascicle length was 10.4% longer in CC homozygotes than CT heterozygotes (P = 0.003) in RA. In the absence of any TT homozygotes, reflective of the low T-allele frequency within Caucasian populations, it is unclear if fascicle length for this group would have been smaller still. No differences in genotype frequency between the RA and MR groups were observed (P = 0.500), however, within the MR group the T-allele carriers demonstrated marathon personal best times 2 min 25 s faster than CC homozygotes (P = 0.020).Conclusions These results suggest that the T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. Journal Article British Journal of Sports Medicine 50 Suppl 1 A55 A56 0306-3674 1473-0480 18 11 2016 2016-11-18 10.1136/bjsports-2016-097120.96 COLLEGE NANME Engineering and Applied Sciences School COLLEGE CODE EAAS Swansea University 2019-09-04T11:31:42.7000709 2019-08-16T11:37:43.5240946 Faculty of Science and Engineering School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences Georgina K Stebbings 1 Alun G Williams 2 Adam J Herbert 3 Sarah J Lockey 4 Shane Heffernan 0000-0002-3297-9335 5 Robert M Erskine 6 Christopher I Morse 7 Stephen H Day 8
title Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
spellingShingle Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
Shane Heffernan
title_short Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
title_full Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
title_fullStr Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
title_full_unstemmed Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
title_sort Titin genotype is associated with skeletal muscle fascicle length in recreationally active men and running performance in habitually trained marathon runners
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
author Shane Heffernan
author2 Georgina K Stebbings
Alun G Williams
Adam J Herbert
Sarah J Lockey
Shane Heffernan
Robert M Erskine
Christopher I Morse
Stephen H Day
format Journal article
container_title British Journal of Sports Medicine
container_volume 50
container_issue Suppl 1
container_start_page A55
publishDate 2016
institution Swansea University
issn 0306-3674
1473-0480
doi_str_mv 10.1136/bjsports-2016-097120.96
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 Objectives The titin gene (TTN) encodes the largest described protein to date and, due to its size, provides a molecular blueprint for the organisation and assembly of the muscle sarcomere. Differences in sarcomere length, due to the expression of different titin isoforms, have been observed previously and may influence muscle fascicle length, which could provide an advantage for running performance. Thus, the aim of this study was to investigate if the TTN rs10497520 polymorphism was associated with muscle fascicle length in recreationally active men and marathon personal best time in elite male marathon runners, and to investigate any differences in genotype frequency between RA and MR.Methods The sample comprised 278 healthy, unrelated Caucasian men who all gave written consent to take part. Participants were categorised as either recreationally active [RA; n = 137; age = 20.7 (2.7) yr; height = 1.79 (0.06) m; mass = 75.3 (10.1) kg] or marathon runners [MR; n = 141; age = 34.9 (7.8) yr; height = 1.79 (0.07) m; mass = 66.5 (6.7) kg]. MR comprised Olympic, international and national level athletes, who had all achieved marathon personal best times under 2 hr 36 mins. Resting fascicle length of the vastus lateralis muscle was assessed in vivo using B-mode ultrasonography at 50% of muscle length in RA only. All participants provided either a whole blood, saliva or buccal cell sample, from which DNA was isolated and genotyped using real-time polymerase chain reaction. Independent samples t-tests were used to determine any genotype-dependent differences in fascicle length in RA and marathon personal best time in MR. Pearson’s chi-square tests were conducted to compare genotype frequencies between RA and MR.Results Vastus lateralis fascicle length was 10.4% longer in CC homozygotes than CT heterozygotes (P = 0.003) in RA. In the absence of any TT homozygotes, reflective of the low T-allele frequency within Caucasian populations, it is unclear if fascicle length for this group would have been smaller still. No differences in genotype frequency between the RA and MR groups were observed (P = 0.500), however, within the MR group the T-allele carriers demonstrated marathon personal best times 2 min 25 s faster than CC homozygotes (P = 0.020).Conclusions These results suggest that the T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men.
published_date 2016-11-18T07:43:56Z
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score 11.047609

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