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. 2014 Jun;31(2):105-8.
doi: 10.5604/20831862.1096046. Epub 2014 Apr 5.

Actn3 genotype is associated with testosterone levels of athletes

I I Ahmetov  1 , A E Donnikov  2 , D Y Trofimov  2
Affiliations

Actn3 genotype is associated with testosterone levels of athletes

I I Ahmetov et al. Biol Sport. 2014 Jun.

Abstract

α-Actinin-3 (ACTN3) has been proposed to regulate skeletal muscle differentiation and hypertrophy through its interaction with the signalling protein calcineurin. Since the inhibition of calcineurin potentiates the production of testosterone, we hypothesized that α-actinin-3 deficiency (predicted from the ACTN3 XX genotype) may influence serum levels of testosterone of athletes.

Objective: To investigate the association of ACTN3 gene R577X polymorphism with resting testosterone levels in athletes.

Methods: A total of 209 elite Russian athletes from different sports (119 males, 90 females) were genotyped for ACTN3 gene R577X polymorphism by real-time PCR. Resting testosterone was examined in serum of athletes using enzyme immunoassay.

Results: The mean testosterone levels were significantly higher in both males and females with the ACTN3 R allele than in XX homozygotes (males: RR: 24.9 (5.7), RX: 21.8 (5.5), XX: 18.6 (4.9) ng · mL(-1), P = 0.0071; females: RR: 1.43 (0.6), RX: 1.21 (0.71), XX: 0.79 (0.66) ng · mL(-1), P = 0.0167).

Conclusions: We found that the ACTN3 R allele was associated with high levels of testosterone in athletes, and this may explain, in part, the association between the ACTN3 RR genotype, skeletal muscle hypertrophy and power athlete status.

Keywords: ACTN3; calcineurin; gene polymorphism; muscle hypertrophy; testosterone.

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References

    1. Ahmetov I.I, Druzhevskaya A.M, Astratenkova I.V, Popov D.V, Vinogradova O.L, Rogozkin V.A. The ACTN3 R577X polymorphism in Russian endurance athletes. Br. J. Sports Med. 2010;44:649–652. - PubMed
    1. Ahmetov I.I, Druzhevskaya A.M, Lyubaeva E.V, Popov D.V, Vinogradova O.L, Williams A.G. The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters. Exp. Physiol. 2011;96:1302–1310. - PubMed
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    1. Ahmetov I.I, Popov D.V, Astratenkova I.V, Druzhevskaya A.M, Missina S.S, Vinogradova O.L, Rogozkin V.A. The use of molecular genetic methods for prognosis of aerobic and anaerobic performance in athletes. Hum. Physiol. 2008;34:338–342. - PubMed
    1. Ahmetov I.I, Vinogradova O.L, Williams A.G. Gene polymorphisms and fiber-type composition of human skeletal muscle. Int. J. Sport Nutr. Exerc. Metab. 2012;22:292–303. - PubMed

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