TTN Variants Are Associated with Physical Performance and Provide Potential Markers for Sport-Related Phenotypes

Agata Leońska-Duniec (), Małgorzata Borczyk, Marcin Piechota, Michał Korostyński, Andrzej Brodkiewicz and Paweł Cięszczyk
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Agata Leońska-Duniec: Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, Poland
Małgorzata Borczyk: Laboratory of Pharmacogenomics, Department of Molecular Neuropharmacology, Maj Institute of Pharmacology, Polish Academy of Sciences, 31-343 Kraków, Poland
Marcin Piechota: Laboratory of Pharmacogenomics, Department of Molecular Neuropharmacology, Maj Institute of Pharmacology, Polish Academy of Sciences, 31-343 Kraków, Poland
Michał Korostyński: Laboratory of Pharmacogenomics, Department of Molecular Neuropharmacology, Maj Institute of Pharmacology, Polish Academy of Sciences, 31-343 Kraków, Poland
Andrzej Brodkiewicz: Department of Pediatrics, Child Nephrology, Dialisotherapy and Management of Acute Poisoning, Pomeranian Medical University, 70-204 Szczecin, Poland
Paweł Cięszczyk: Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, Poland

IJERPH, 2022, vol. 19, issue 16, 1-12

Abstract: TTN encodes the third myofilament, titin, which plays structural, mechanical, regulatory, and developmental roles in sarcomeres. The aim of this research was to determine the interaction between novel and previously described TTN variants and athletic performance, as well as competition level, in Caucasians. Firstly, 100 athletes and 47 controls were recruited, and whole-genome sequencing was performed. Secondly, 348 athletes (108 endurance, 100 sprint/power, 140 mixed-sport athletes) and 403 volunteers were included, and real-time PCR was performed. We found a significant overrepresentation of the rs10497520 CT and TT genotypes in the sprint/power athlete group (95% CI, 1.41–3.66, p = 0.0013). The rs10497520 T carriers were 2.17 times more likely to become sprint/power athletes (95% CI 1.35–3.49, p = 0.0021). We also found that the likelihood of having the TT genotype was higher for the highly elite and sub-elite sprint/power athletes. Possessing at least one TAA (rs10497520, rs55837610, rs72648256) haplotype resulted in an increase in the log-odds ratio by 0.80 ( p = 0.0015), 1.42 ( p = 0.003), and 0.77 ( p = 0.044) for all, highly elite, and sub-elite sprint/power athletes, respectively. We demonstrated that harbouring the rs10497520 T allele, individually and in a haplotype combination, increased the chance of being an elite sprint/power athlete, indicating that this allele may be favourable for sprint/power performance.

Keywords: titin; muscle fibers; elite athletes; sequencing; candidate gene; sport genetics (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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