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TTN genotype is associated with fascicle length and marathon running performance

G. K. Stebbings, A. G. Williams, A. J. Herbert, S. J. Lockey, S. M. Heffernan, R. M. Erskine, C. I. Morse, S. H. Day, Shane Heffernan Orcid Logo

Scandinavian Journal of Medicine & Science in Sports, Volume: 28, Issue: 2, Pages: 400 - 406

Swansea University Author: Shane Heffernan Orcid Logo

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DOI (Published version): 10.1111/sms.12927

Abstract

Titin provides a molecular blueprint for muscle sarcomere assembly, and sarcomere length can vary according to titin isoform expression. If variations in sarcomere length influence muscle fascicle length, this may provide an advantage for running performance. Thus, the aim of this study was to inves...

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Published in: Scandinavian Journal of Medicine & Science in Sports
ISSN: 0905-7188
Published: 2018
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URI: https://cronfa.swan.ac.uk/Record/cronfa51439
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first_indexed 2019-08-16T15:30:33Z
last_indexed 2019-09-03T14:51:40Z
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spelling 2019-09-03T11:25:22.5837074 v2 51439 2019-08-16 TTN genotype is associated with fascicle length and marathon running performance 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2019-08-16 STSC Titin provides a molecular blueprint for muscle sarcomere assembly, and sarcomere length can vary according to titin isoform expression. If variations in sarcomere length influence muscle fascicle length, this may provide an advantage for running performance. Thus, the aim of this study was to investigate whether the titin (TTN) rs10497520 polymorphism was associated with muscle fascicle length in recreationally active men (RA; n=137) and marathon personal best time in male marathon runners (MR; n=141). Fascicle length of the vastus lateralis was assessed in vivo using B‐mode ultrasonography at 50% of muscle length in RA. 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. Vastus lateralis fascicle length was 10.4% longer in CC homozygotes, those carrying two copies of the C‐allele, than CT heterozygotes (P=.003) in RA. In the absence of any TT homozygotes, reflective of the low T‐allele frequency within Caucasian populations, it is unclear whether fascicle length for this group would have been smaller still. No differences in genotype frequency between the RA and MR groups were observed (P=.500), although within the MR group, the T‐allele carriers demonstrated marathon personal best times 2 minutes 25 seconds faster than CC homozygotes (P=.020). 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 Scandinavian Journal of Medicine & Science in Sports 28 2 400 406 0905-7188 28 6 2018 2018-06-28 10.1111/sms.12927 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2019-09-03T11:25:22.5837074 2019-08-16T10:54:06.1510224 G. K. Stebbings 1 A. G. Williams 2 A. J. Herbert 3 S. J. Lockey 4 S. M. Heffernan 5 R. M. Erskine 6 C. I. Morse 7 S. H. Day 8 Shane Heffernan 0000-0002-3297-9335 9
title TTN genotype is associated with fascicle length and marathon running performance
spellingShingle TTN genotype is associated with fascicle length and marathon running performance
Shane Heffernan
title_short TTN genotype is associated with fascicle length and marathon running performance
title_full TTN genotype is associated with fascicle length and marathon running performance
title_fullStr TTN genotype is associated with fascicle length and marathon running performance
title_full_unstemmed TTN genotype is associated with fascicle length and marathon running performance
title_sort TTN genotype is associated with fascicle length and marathon running performance
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
author Shane Heffernan
author2 G. K. Stebbings
A. G. Williams
A. J. Herbert
S. J. Lockey
S. M. Heffernan
R. M. Erskine
C. I. Morse
S. H. Day
Shane Heffernan
format Journal article
container_title Scandinavian Journal of Medicine & Science in Sports
container_volume 28
container_issue 2
container_start_page 400
publishDate 2018
institution Swansea University
issn 0905-7188
doi_str_mv 10.1111/sms.12927
document_store_str 0
active_str 0
description Titin provides a molecular blueprint for muscle sarcomere assembly, and sarcomere length can vary according to titin isoform expression. If variations in sarcomere length influence muscle fascicle length, this may provide an advantage for running performance. Thus, the aim of this study was to investigate whether the titin (TTN) rs10497520 polymorphism was associated with muscle fascicle length in recreationally active men (RA; n=137) and marathon personal best time in male marathon runners (MR; n=141). Fascicle length of the vastus lateralis was assessed in vivo using B‐mode ultrasonography at 50% of muscle length in RA. 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. Vastus lateralis fascicle length was 10.4% longer in CC homozygotes, those carrying two copies of the C‐allele, than CT heterozygotes (P=.003) in RA. In the absence of any TT homozygotes, reflective of the low T‐allele frequency within Caucasian populations, it is unclear whether fascicle length for this group would have been smaller still. No differences in genotype frequency between the RA and MR groups were observed (P=.500), although within the MR group, the T‐allele carriers demonstrated marathon personal best times 2 minutes 25 seconds faster than CC homozygotes (P=.020). 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 2018-06-28T04:03:19Z
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score 11.013371

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