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Al-Khelaifi F, Yousri NA, Diboun I, et al. Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism. Front Genet. 2020;11:595doi: 10.3389/fgene.2020.00595.
Al-Khelaifi, F., Yousri, N. A., Diboun, I., Semenova, E. A., Kostryukova, E. S., Kulemin, N. A., Borisov, O. V., Andryushchenko, L. B., Larin, A. K., Generozov, E. V., Miyamoto-Mikami, E., Murakami, H., Zempo, H., Miyachi, M., Takaragawa, M., Kumagai, H., Naito, H., Fuku, N., Abraham, D., Hingorani, A., Donati, F., Botrè, F., Georgakopoulos, C., Suhre, K., Ahmetov, I. I., Albagha, O., & Elrayess, M. A. (2020). Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism. Frontiers in genetics, 11595. https://doi.org/10.3389/fgene.2020.00595
Al-Khelaifi, Fatima, et al. "Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism." Frontiers in genetics vol. 11 (2020): 595. doi: https://doi.org/10.3389/fgene.2020.00595
Al-Khelaifi F, Yousri NA, Diboun I, Semenova EA, Kostryukova ES, Kulemin NA, Borisov OV, Andryushchenko LB, Larin AK, Generozov EV, Miyamoto-Mikami E, Murakami H, Zempo H, Miyachi M, Takaragawa M, Kumagai H, Naito H, Fuku N, Abraham D, Hingorani A, Donati F, Botrè F, Georgakopoulos C, Suhre K, Ahmetov II, Albagha O, Elrayess MA. Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism. Front Genet. 2020 Jun 16;11:595. doi: 10.3389/fgene.2020.00595. eCollection 2020. PMID: 32612638; PMCID: PMC7308547.
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Front Genet. 2020 Jun 16;11:595. doi: 10.3389/fgene.2020.00595. eCollection 2020.

Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism.

Frontiers in genetics

Fatima Al-Khelaifi, Noha A Yousri, Ilhame Diboun, Ekaterina A Semenova, Elena S Kostryukova, Nikolay A Kulemin, Oleg V Borisov, Liliya B Andryushchenko, Andrey K Larin, Edward V Generozov, Eri Miyamoto-Mikami, Haruka Murakami, Hirofumi Zempo, Motohiko Miyachi, Mizuki Takaragawa, Hiroshi Kumagai, Hisashi Naito, Noriyuki Fuku, David Abraham, Aroon Hingorani, Francesco Donati, Francesco Botrè, Costas Georgakopoulos, Karsten Suhre, Ildus I Ahmetov, Omar Albagha, Mohamed A Elrayess

Affiliations

  1. Anti-Doping Laboratory Qatar, Doha, Qatar.
  2. UCL-Medical School, London, United Kingdom.
  3. Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Qatar-Foundation, Doha, Qatar.
  4. Department of Computer and Systems Engineering, Alexandria University, Alexandria, Egypt.
  5. College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
  6. Department of Molecular Biology and Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia.
  7. Department of Biochemistry, Kazan Federal University, Kazan, Russia.
  8. Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
  9. Department of Physical Education, Plekhanov Russian University of Economics, Moscow, Russia.
  10. Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan.
  11. Department of Physical Activity Research, National Institutes of Biomedical Innovation, Health and Nutrition, Tokyo, Japan.
  12. Faculty of Health and Nutrition, Tokyo Seiei College, Tokyo, Japan.
  13. Japanese Society for the Promotion of Science, Tokyo, Japan.
  14. Laboratorio Antidoping, Federazione Medico Sportiva Italiana, Rome, Italy.
  15. Department of Physiology and Biophysics, Weill Cornell Medicine-Qatar, Qatar-Foundation, Doha, Qatar.
  16. Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, United Kingdom.
  17. Laboratory of Molecular Genetics, Kazan State Medical University, Kazan, Russia.
  18. Center for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, United Kingdom.
  19. Biomedical Research Institute (BRC), Qatar University, Doha, Qatar.

PMID: 32612638 PMCID: PMC7308547 DOI: 10.3389/fgene.2020.00595

Abstract

BACKGROUND: The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite European athletes using GWAS approach, followed by replication studies in Russian and Japanese elite athletes and functional validation using metabolomics analysis.

RESULTS: The association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athlete status was investigated in 796 European international-level athletes (645 males, 151 females) by comparing allelic frequencies between athletes specialized in sports with high (

CONCLUSIONS: This is the first report of genome-wide significant SNP and related metabolites associated with elite athlete status. Further investigations of the functional relevance of the identified SNPs and metabolites in relation to enhanced athletic performance are warranted.

Copyright © 2020 Al-Khelaifi, Yousri, Diboun, Semenova, Kostryukova, Kulemin, Borisov, Andryushchenko, Larin, Generozov, Miyamoto-Mikami, Murakami, Zempo, Miyachi, Takaragawa, Kumagai, Naito, Fuku, Abraham, Hingorani, Donati, Botrè, Georgakopoulos, Suhre, Ahmetov, Albagha and Elrayess.

Keywords: GWAS; SNP; elite athletes; endurance; metabolites; metabolomics

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