Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes

Background: To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: <i>MCT1</i> rs1049434, <i>NRF2</i> rs12594956, <i>MYBPC3<...

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Main Authors: Magdalena Dzitkowska-Zabielska, Aleksandra Bojarczuk, Małgorzata Borczyk, Marcin Piechota, Michał Korostyński, Jakub Grzegorz Adamczyk, Grzegorz Trybek, Myosotis Massidda, Paweł Cięszczyk
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
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Online Access:https://www.mdpi.com/2073-4425/13/5/870
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author Magdalena Dzitkowska-Zabielska
Aleksandra Bojarczuk
Małgorzata Borczyk
Marcin Piechota
Michał Korostyński
Jakub Grzegorz Adamczyk
Grzegorz Trybek
Myosotis Massidda
Paweł Cięszczyk
author_facet Magdalena Dzitkowska-Zabielska
Aleksandra Bojarczuk
Małgorzata Borczyk
Marcin Piechota
Michał Korostyński
Jakub Grzegorz Adamczyk
Grzegorz Trybek
Myosotis Massidda
Paweł Cięszczyk
author_sort Magdalena Dzitkowska-Zabielska
collection DOAJ
description Background: To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: <i>MCT1</i> rs1049434, <i>NRF2</i> rs12594956, <i>MYBPC3</i> rs1052373 and <i>HFE</i> rs1799945 in Polish elite athletes versus nonathletes. Methods: The study involved 101 male elite Polish athletes and 41 healthy individuals from the Polish population as a control group. SNP data were extracted from whole-genome sequencing (WGS) performed using the following parameters: paired reads of 150 bps, at least 90 Gb of data per sample with 300 M reads and 30× mean coverage. Results: All the analyzed polymorphisms conformed to Hardy–Weinberg equilibrium (HWE) in athletes and the control group, except the <i>MCT1</i> rs1049434, where allele T was over-represented in the elite trainers’ group. No significant between-group differences were found for analyzed polymorphisms. Conclusions: The <i>MCT1</i> rs1049434 transmission distortion might be characteristic of Polish athletes and the effect of strict inclusion criteria. This result and the lack of statistically significant changes in the frequency of other polymorphisms between the groups might result from the small group size.
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spelling doaj.art-933fa88e5134451988c31e2317d50b2c2023-11-23T11:10:48ZengMDPI AGGenes2073-44252022-05-0113587010.3390/genes13050870Transmission Distortion of MCT1 rs1049434 among Polish Elite AthletesMagdalena Dzitkowska-Zabielska0Aleksandra Bojarczuk1Małgorzata Borczyk2Marcin Piechota3Michał Korostyński4Jakub Grzegorz Adamczyk5Grzegorz Trybek6Myosotis Massidda7Paweł Cięszczyk8Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, PolandFaculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, PolandLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, PolandLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, PolandLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, PolandDepartment of Theory of Sport, Józef Piłsudski University of Physical Education, 00-968 Warsaw, PolandDepartment of Oral Surgery, Pomeranian Medical University, 70-111 Szczecin, PolandDepartment of Life and Environmental Sciences, University of Cagliari, 72-09124 Cagliari, ItalyFaculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, PolandBackground: To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: <i>MCT1</i> rs1049434, <i>NRF2</i> rs12594956, <i>MYBPC3</i> rs1052373 and <i>HFE</i> rs1799945 in Polish elite athletes versus nonathletes. Methods: The study involved 101 male elite Polish athletes and 41 healthy individuals from the Polish population as a control group. SNP data were extracted from whole-genome sequencing (WGS) performed using the following parameters: paired reads of 150 bps, at least 90 Gb of data per sample with 300 M reads and 30× mean coverage. Results: All the analyzed polymorphisms conformed to Hardy–Weinberg equilibrium (HWE) in athletes and the control group, except the <i>MCT1</i> rs1049434, where allele T was over-represented in the elite trainers’ group. No significant between-group differences were found for analyzed polymorphisms. Conclusions: The <i>MCT1</i> rs1049434 transmission distortion might be characteristic of Polish athletes and the effect of strict inclusion criteria. This result and the lack of statistically significant changes in the frequency of other polymorphisms between the groups might result from the small group size.https://www.mdpi.com/2073-4425/13/5/870polymorphismsathletesspeedenduranceHWE
spellingShingle Magdalena Dzitkowska-Zabielska
Aleksandra Bojarczuk
Małgorzata Borczyk
Marcin Piechota
Michał Korostyński
Jakub Grzegorz Adamczyk
Grzegorz Trybek
Myosotis Massidda
Paweł Cięszczyk
Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
Genes
polymorphisms
athletes
speed
endurance
HWE
title Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
title_full Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
title_fullStr Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
title_full_unstemmed Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
title_short Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
title_sort transmission distortion of mct1 rs1049434 among polish elite athletes
topic polymorphisms
athletes
speed
endurance
HWE
url https://www.mdpi.com/2073-4425/13/5/870
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