Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene

Highlights

 

The frequency of HFE mutations in elite athletes is twice as high as in controls.

In the international podium group, 80% of athletes have mutations in the HFE gene.

The HFE mutations are favourable to high level performance in athletes.

Heterozygous HFE mutations could be associated with a favourable phenotype.

 


Abstract

The HFE gene encodes a protein involved in iron homeostasis; individuals with mutations in both alleles develop hemochromatosis. 27% of the French population is heterozygous for mutations in this gene. We found that 80% of the French athletes who won international competitions in rowing, Nordic skiing and judo display mutations in one allele of HFE, thus demonstrating the existence of a favourable phenotype linked to this heterozygosity.

Keywords

  • athlete
  • gene
  • HFE mutation frequency
  • iron

Abbreviations

  • HFEHigh Fe, or high iron concentration
  • RBCred blood cell
  • MVCmean corpuscular volume
  • EPOerythropoietin
  • sTFRsoluble transferrin receptor
  • IPGinternational podium group
  • NPGno international podium group
  • ORodds ratio

The research was done at IRMES 1 and Institut Biotechnologique de Troyes 7.

Corresponding author. IRMES, INSEP, 12 av du Tremblay, 75015 Paris, France. Tel.: +33 1 41 74 41 29; fax: +33 1 41 74 41 75.
Corresponding author. Department of hematology, 169 rue de Sèvres, 75743 Paris Cedex 15, Paris, France. Tel.: +33 1 44 49 52 82.
1

OH and GD contributed equally to this manuscript.

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Autor / Fonte:Olivier Hermine, Gérard Dine, Vincent Genty, more. Biochimie 2015 September 25
Link: http://www.sciencedirect.com/science/article/pii/S030090841500303X