Article Text

other Versions

PDF
Polymorphisms in the IGF1 signalling pathway including the myostatin gene are associated with left ventricular mass in male athletes
  1. Ruth-Jessica Karlowatz (ruth.karlowatz{at}igd-saar.de)
  1. Institute of Human Genetics, University of Saarland/IGD Saar GmbH, Germany
    1. Jürgen Scharhag (j.scharhag{at}mx.uni-saarland.de)
    1. Institute of Sports and Preventive Medicine, University of Saarland, Saarbrücken, Germany
      1. Jörg Rahnenführer (rahnenfuehrer{at}statistik.uni-dortmund.de)
      1. Fakultät Statistik, Technische Universität Dortmund, Dortmund, Germany
        1. Ulrich Schneider
        1. Department of Sports Medicine, Sportsclinic Hellersen, Lüdenscheid, Germany
          1. Ernst Jakob (sekretariat.jakob{at}hellersen.de)
          1. Department of Sports Medicine, Sportsclinic Hellersen, Lüdenscheid, Germany
            1. Wilfried Kindermann (w.kindermann{at}mx.uni-saarland.de)
            1. Institute of Sports and Preventive Medicine, University of Saarland, Saarbrücken, Germany
              1. Klaus Dieter Zang (klaus.zang{at}uniklinikum-saarland.de)
              1. Institute of Human Genetics, University of Saarland/IGD Saar GmbH, Germany

                Abstract

                Background: Athlete’s heart as an adaptation to long-time and intensive endurance training shows considerable individual differences. Genetic polymorphisms in the cardiologic relevant insulin-like growth factor 1 (IGF1) signalling pathway seem to have an essential influence on the extent of physiological hypertrophy.

                Objective: Analysis of polymorphisms in the genes of IGF1, IGF1 receptor (IGF1R) and the negative regulator of the cardiac IGF1 signalling pathway, myostatin (MSTN), and their relation to left ventricular mass (LVM) of endurance athletes.

                Methods: In 110 elite endurance athletes or athletes with a high amount of endurance training (75 males and 35 females) and 27 male controls, which were examined by echocardiographic imaging methods and ergometric exercise-testing, the genotypes of a cytosine-adenine repeat polymorphism in the promoter region of the IGF1 gene and a G/A substitution at position 3174 in the IGF1R gene were determined. Additionally, a mutation screen of the MSTN gene was performed.

                Results: The polymorphisms in the IGF1 and the IGF1R gene showed a significant relation to the LVM for male (IGF1: p=0.003; IGF1R: p=0.01), but not for female athletes. The same applies to a previously unnoticed polymorphism in the 1. intron of the MSTN gene, whose deletion allele (AAA → AA) appears to increase the myostatic effect (p=0.015). Moreover, combinations of the polymorphisms showed significant synergistic effects on the LVM of the male athletes.

                Conclusions: Our results argue for the importance of polymorphisms in the IGF1 signalling pathway in combination with MSTN on the variant degree of physiological hypertrophy of male athletes.

                Statistics from Altmetric.com

                Request permissions

                If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.