Open Access

Genes, volume 14, issue 3, pages 660

Exome-Wide Association Study of Competitive Performance in Elite Athletes

Bulgay Celal ¹

Kasakolu Anıl ²

Kazan Hasan Hüseyin ^{3, 4}

Mijaică Raluca ⁵

Zorba Erdal ⁶

Akman Onur ⁷

Bayraktar Isık ⁸

Ekmekci Rıdvan ⁹

Koncagul Seyrani ²

Ulucan Korkut ¹⁰

Semenova Ekaterina A. ^{11, 12}

Larin Andrey K. ¹¹

Kulemin Nikolay A. ¹¹

Generozov Edward V. ¹¹

Balint Lorand ⁵

Badicu Georgian ⁵

Ahmetov I. I. ^{11, 13, 14, 15}

Ergun Mehmet Ali ¹⁶

Hide authors affiliations Show authors affiliations: 16 affiliations

Sports Science Faculty, Bingol University, 12000 Bingol, Turkey |

Faculty of Agriculture, Ankara University, 06000 Ankara, Turkey |

Medical Genetics Department, Faculty of Medicine, Near East University, 1010–1107 Nicosia, Cyprus |

⁴

DESAM Institute, Near East University, 1010–1107 Nicosia, Cyprus |

⁵

Department of Physical Education and Special Motricity, Faculty of Physical Education and Mountain Sports, Transilvania University, 500068 Braşov, Romania |

⁶

Sports Science Faculty, Gazi University, 06560 Ankara, Turkey |

⁷

Sports Science Faculty, Bayburt University, 69000 Bayburt, Turkey |

⁸

Sports Science Faculty, Alanya Alaaddin Keykubat University, 07450 Alanya, Turkey |

⁹

Sports Science Faculty, Pamukkale University, 20160 Denizli, Turkey |

¹⁰

Sports Department of Medical Biology and Genetics, Marmara University, 34722 Istanbul, Turkey |

¹¹

Department of Molecular Biology and Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia |

¹²

Research Institute of Physical Culture and Sport, Volga Region State University of Physical Culture, Sport and Tourism, 420138 Kazan, Russia |

¹³

Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 5AF, UK |

¹⁴

Department of Physical Education, Plekhanov Russian University of Economics, 115093 Moscow, Russia |

¹⁵

Laboratory of Genetics of Aging and Longevity, Kazan State Medical University, 420012 Kazan, Russia |

¹⁶

Department of Medical Genetics, Faculty of Medicine, Gazi University, 06560 Ankara, Turkey |

Publication type: Journal Article

Publication date: 2023-03-06

Multidisciplinary Digital Publishing Institute (MDPI)

Journal: Genes

Quartile SCImago

Quartile WOS

Impact factor: 3.5

ISSN: 20734425

DOI: 10.3390/genes14030660

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Genetics

Genetics (clinical)

Abstract

The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10−7) in genotype–phenotype and case–control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes.

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Citations by journals

	1 2
Genes	Genes, 2, 28.57% Genes 2 publications, 28.57%
Frontiers in Psychology	Frontiers in Psychology, 1, 14.29% Frontiers in Psychology 1 publication, 14.29%
BMC Sports Science, Medicine and Rehabilitation	BMC Sports Science, Medicine and Rehabilitation, 1, 14.29% BMC Sports Science, Medicine and Rehabilitation 1 publication, 14.29%
Applied Sciences (Switzerland)	Applied Sciences (Switzerland), 1, 14.29% Applied Sciences (Switzerland) 1 publication, 14.29%
Advances in Genetics	Advances in Genetics, 1, 14.29% Advances in Genetics 1 publication, 14.29%
Advanced Exercise and Health Science	Advanced Exercise and Health Science, 1, 14.29% Advanced Exercise and Health Science 1 publication, 14.29%
	1 2

Citations by publishers

	1 2 3
Multidisciplinary Digital Publishing Institute (MDPI)	Multidisciplinary Digital Publishing Institute (MDPI), 3, 42.86% Multidisciplinary Digital Publishing Institute (MDPI) 3 publications, 42.86%
Elsevier	Elsevier, 2, 28.57% Elsevier 2 publications, 28.57%
Frontiers Media S.A.	Frontiers Media S.A., 1, 14.29% Frontiers Media S.A. 1 publication, 14.29%
Springer Nature	Springer Nature, 1, 14.29% Springer Nature 1 publication, 14.29%
	1 2 3

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Bulgay C. et al. Exome-Wide Association Study of Competitive Performance in Elite Athletes // Genes. 2023. Vol. 14. No. 3. p. 660.

GOST all authors (up to 50) Copy

Bulgay C., Kasakolu A., Kazan H. H., Mijaică R., Zorba E., Akman O., Bayraktar I., Ekmekci R., Koncagul S., Ulucan K., Semenova E. A., Larin A. K., Kulemin N. A., Generozov E. V., Balint L., Badicu G., Ahmetov I. I., Ergun M. A. Exome-Wide Association Study of Competitive Performance in Elite Athletes // Genes. 2023. Vol. 14. No. 3. p. 660.

RIS |

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RIS Copy

TY - JOUR

DO - 10.3390/genes14030660

UR - https://doi.org/10.3390%2Fgenes14030660

TI - Exome-Wide Association Study of Competitive Performance in Elite Athletes

T2 - Genes

AU - Bulgay, Celal

AU - Kasakolu, Anıl

AU - Kazan, Hasan Hüseyin

AU - Mijaică, Raluca

AU - Zorba, Erdal

AU - Akman, Onur

AU - Bayraktar, Isık

AU - Ekmekci, Rıdvan

AU - Koncagul, Seyrani

AU - Ulucan, Korkut

AU - Semenova, Ekaterina A.

AU - Larin, Andrey K.

AU - Kulemin, Nikolay A.

AU - Generozov, Edward V.

AU - Balint, Lorand

AU - Badicu, Georgian

AU - Ahmetov, I. I.

AU - Ergun, Mehmet Ali

PY - 2023

DA - 2023/03/06 00:00:00

PB - Multidisciplinary Digital Publishing Institute (MDPI)

SP - 660

IS - 3

VL - 14

SN - 2073-4425

ER -

BibTex |

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@article{2023_Bulgay,

author = {Celal Bulgay and Anıl Kasakolu and Hasan Hüseyin Kazan and Raluca Mijaică and Erdal Zorba and Onur Akman and Isık Bayraktar and Rıdvan Ekmekci and Seyrani Koncagul and Korkut Ulucan and Ekaterina A. Semenova and Andrey K. Larin and Nikolay A. Kulemin and Edward V. Generozov and Lorand Balint and Georgian Badicu and I. I. Ahmetov and Mehmet Ali Ergun},

title = {Exome-Wide Association Study of Competitive Performance in Elite Athletes},

journal = {Genes},

year = {2023},

volume = {14},

publisher = {Multidisciplinary Digital Publishing Institute (MDPI)},

month = {mar},

url = {https://doi.org/10.3390%2Fgenes14030660},

number = {3},

pages = {660},

doi = {10.3390/genes14030660}

}

MLA

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Bulgay, Celal, et al. “Exome-Wide Association Study of Competitive Performance in Elite Athletes.” Genes, vol. 14, no. 3, Mar. 2023, p. 660. https://doi.org/10.3390%2Fgenes14030660.

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Publisher

Multidisciplinary Digital Publishing Institute (MDPI)

Journal

Genes

Quartile SCImago

Quartile WOS

Impact factor

3.5

ISSN

20734425 (Print)

Labs

Laboratory of Human Molecular Genetics

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