The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake

João Paulo L F Guilherme; Edit Bosnyák; Ekaterina A Semenova; Márta Szmodis; Annamária Griff; Ákos Móra; Gábor Almási; Emese Trájer; Anna Udvardy; Elena S Kostryukova; Oleg V Borisov; Andrey K Larin; Liliya B Andryushchenko; Egor B Akimov; Edward V Generozov; Ildus I Ahmetov; Miklós Tóth; Antonio H Lancha Junior

doi:10.5114/biolsport.2021.101638

The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake

Biol Sport. 2021 Sep;38(3):465-474. doi: 10.5114/biolsport.2021.101638. Epub 2020 Dec 22.

Authors

João Paulo L F Guilherme¹, Edit Bosnyák², Ekaterina A Semenova³, Márta Szmodis², Annamária Griff², Ákos Móra⁴, Gábor Almási², Emese Trájer², Anna Udvardy², Elena S Kostryukova³, Oleg V Borisov^{3

5}, Andrey K Larin³, Liliya B Andryushchenko⁶, Egor B Akimov⁷, Edward V Generozov³, Ildus I Ahmetov^{6

8

9

10}, Miklós Tóth^{2

4}, Antonio H Lancha Junior¹

Affiliations

¹ Laboratory of Applied Nutrition and Metabolism, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
² Department of Health Sciences and Sport Medicine, University of Physical Education, Budapest, Hungary.
³ Department of Molecular Biology and Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia.
⁴ Faculty of Health Sciences, University of Pécs, Pécs, Hungary.
⁵ Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
⁶ Department of Physical Education, Plekhanov Russian University of Economics, Moscow, Russia.
⁷ Central Cross Country Ski Association, Madison, WI, United States of America.
⁸ Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, St Petersburg, Russia.
⁹ Laboratory of Molecular Genetics, Kazan State Medical University, Kazan, Russia.
¹⁰ Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, United Kingdom.

Abstract

The purpose of this study was to explore the association of the MCT1 gene Glu490Asp polymorphism (rs1049434) with athletic status and performance of endurance athletes. A total of 1,208 Brazilians (318 endurance athletes and 890 non-athletes) and 867 Europeans (315 endurance athletes and 552 non-athletes) were evaluated in a case-control approach. Brazilian participants were classified based on self-declared ethnicity to test whether the polymorphism was different between Caucasians and Afro-descendants. Moreover, 66 Hungarian athletes underwent an incremental test until exhaustion to assess blood lactate levels, while 46 Russian athletes had their maximum oxygen uptake ( $\overset{\cdot}{V} O_{2 \max}$ ) compared between genotypes. In the Brazilian cohort, the major T-allele was more frequent in Caucasian top-level competitors compared to their counterparts of lower competitive level (P = 0.039), and in Afro-descendant athletes compared to non-athletes (P = 0.015). Similarly, the T-allele was more frequent in European athletes (P = 0.029). Meta-analysis of the Brazilian and European cohorts confirmed that the T-allele is over-represented in endurance athletes (OR: 1.48, P = 0.03), especially when Afro-descendant athletes were included in the meta-analysis (OR: 1.58, P = 0.005). Furthermore, carriers of the T/T genotype accumulated less blood lactate in response to intense effort (P < 0.01) and exhibited higher $\overset{\cdot}{V} O_{2 \max}$ (P = 0.04)_. In conclusion, the Glu490Asp polymorphism was associated with endurance athletic status and performance. Our findings suggest that, although ethnic differences may exist, the presence of the major T-allele (i.e., the Glu-490 allele) favours endurance performance more than the mutant A-allele (i.e., the 490-Asp allele).

Keywords: Aerobic Performance; Aerobic Power; Athletes; Erythrocytes; Genetics; Monocarboxylate Transporter.