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Polymorphisms in the IGF1 signalling pathway including the myostatin gene are associated with left ventricular mass in male athletes
  1. Ruth-Jessica Karlowatz1,
  2. Jürgen Scharhag2,3,
  3. Jörg Rahnenführer4,
  4. Ulrich Schneider5,
  5. Ernst Jakob5,
  6. Wilfried Kindermann2,
  7. Klaus Dieter Zang1
  1. 1Institute of Human Genetics, University of Saarland/IGD Saar GmbH, Homburg/Saar, Germany
  2. 2Institute of Sports and Preventive Medicine, University of Saarland, Saarbrücken, Germany
  3. 3University Outpatient Clinic, Centre for Sports Medicine, University Potsdam, Germany
  4. 4Fakultät Statistik, Technische Universität Dortmund, Dortmund, Germany
  5. 5Department of Sports Medicine, Sportsclinic Hellersen, Lüdenscheid, Germany
  1. Correspondence to PD Jürgen Scharhag, University Outpatient Clinic, Centre for Sports Medicine, University Potsdam, Am Neuen Palais 10, Haus 12, 14469 Potsdam, Germany; scharhag{at}


Background Athlete's heart as an adaptation to long-time and intensive endurance training can vary considerably between individuals. Genetic polymorphisms in the cardiological 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 The authors' 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.

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  • Funding The study was supported by a grant from the Landesforschungsförderungsprogramm of the Saarland (Grant D4- (LFFP 0430)) and the Landessportverband für das Saarland (LSVS).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Ethics approval was provided by the ethic committee of the Ärztekammer des Saarlandes, Germany (see Materials and Methods).