Mitochondrial DNA variation is associated with elite athletic status in the Polish population

Authors

  • A. Maruszak,

    1. Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
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  • J. G. Adamczyk,

    1. Department of Sport's Theory, Institute of Sport, Jozef Pilsudski University of Physical Education in Warsaw, Warszawa, Poland
    2. Department of Rehabilitation, Physiotherapy Division, Warsaw Medical University, Warszawa, Poland
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  • M. Siewierski,

    1. Department of Sport's Theory, Institute of Sport, Jozef Pilsudski University of Physical Education in Warsaw, Warszawa, Poland
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  • H. Sozański,

    1. Department of Sport's Theory, Institute of Sport, Jozef Pilsudski University of Physical Education in Warsaw, Warszawa, Poland
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  • A. Gajewski,

    1. Department of Sport's Theory, Institute of Sport, Jozef Pilsudski University of Physical Education in Warsaw, Warszawa, Poland
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  • C. Żekanowski

    Corresponding author
    1. Department of Sport's Theory, Institute of Sport, Jozef Pilsudski University of Physical Education in Warsaw, Warszawa, Poland
    • Corresponding author: Cezary Żekanowski, PhD, DSc, Department of Sport's Theory, Institute of Sport, Jozef Pilsudski University of Physical Education in Warsaw, Marymoncka 34 00-968 Warszawa, Poland. Tel: +48 22 834 76 63, Fax: +48 22 834 41 54, E-mail: c.zekanowski@imdik.pan.pl

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Abstract

There is mounting evidence that genetic factors located in mitochondrial and nuclear genomes influence sport performance. Certain mitochondrial haplogroups and polymorphisms were associated with the status of elite athlete, especially in endurance performance. The aim of our study was to assess whether selected mitochondrial DNA (mtDNA) and nuclear DNA variants are associated with elite athlete performance in a group of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls. Our major finding was that the mtDNA haplogroup H and HV cluster influence endurance performance at the Olympic/World Class level of performance (P = 0.018 and P = 0.0185, respectively). We showed that two polymorphisms located in the mtDNA control region were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.16362C, 3.8% vs 9.2%, respectively, P = 0.0025, odds ratio = 0.39, 95% confidence interval: 0.21–0.72), or in the endurance athletes as compared with controls (m.16080G, 2.35% vs 0%, respectively, P = 0.004). Our results indicate that mtDNA variability affects the endurance capacity rather than the power one. We also propose that mtDNA haplogroups and subhaplogroups, as well as individual mtDNA polymorphisms favoring endurance performance, could be population-specific, reflecting complex cross-talk between nuclear and mitochondrial genomes.

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