Polymorphisms of alpha-actinin-3 and ciliary neurotrophic factor in national-level Italian athletes

Panminerva Med. 2013 Jun;55(2):217-24.


Aim: The R577X polymorphism of the alpha-actinin-3 (ACTN3) gene and the IVS1-6G>A polymorphism of the ciliary neurotrophic factor (CNTF) gene have been associated with a favourable muscle phenotype (more muscle fibres with high glycolytic activity), reduced predisposition for congenital dystrophy and resistance to sarcopenia in old age. The aim of this study was to look for evidence of selective pressure towards genotypes favourable for strong muscle activity in a sample of national-level Italian athletes.

Methods: We analysed two stop codon polymorphisms in the DNA of 50 Italian athletes, specialised in power or endurance sports, and compared their genotypic distribution with those of a population of 50 controls. In a representative sub-group of athletes (N.=42) we then compared the genetic data with anaerobic threshold, assessed by an incremental exercise test up to exhaustion.

Results: The athlete group showed an allelic distribution of ACTN3 (R/R:64%, R/X:16%, X/X:20%) and CNTF (G/G:72%, G/A:26%, A/A:2%), significantly imbalanced towards alleles R/R and G/G, respectively, compared to controls (ACTN3=R/R:40% R/X:22% X/X:38% and CNTF=G/G:52%, G/A:24%, A/A:24%) (p=0.0024 and p=0.0001, respectively). Only the ACTN3 577X/X polymorphism showed a significant association with the anaerobic threshold of athletes (F-ratio= 4.037; p=0.025). Factorial ANOVA demonstrated a non significant interaction between favourable allelic patterns of ACTN3 and CNTF genes on aerobic performance in the athlete group.

Conclusion: The relationship found between favourable muscle phenotype and this genetic profile may have interesting implications in sport performance and training, athlete selection and different clinical activities, such as physical rehabilitation and modifying phenotypes associated with neuromuscular diseases.

MeSH terms

  • Actinin / genetics*
  • Athletes*
  • Case-Control Studies
  • Chi-Square Distribution
  • Ciliary Neurotrophic Factor / genetics*
  • Exercise Test
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Italy
  • Male
  • Muscle Strength / genetics
  • Muscle, Skeletal / physiology*
  • Oxygen Consumption / genetics
  • Phenotype
  • Physical Endurance / genetics*
  • Polymorphism, Genetic*


  • ACTN3 protein, human
  • Ciliary Neurotrophic Factor
  • Actinin