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Updated: Jun 5, 2026

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Are calcineurin genes associated with athletic status? A function, replication study.

Zi-Hong He1, Yang Hu, Yan-Chun Li

  • 1Biology Center, China Institute of Sport Science, Beijing, China.

Medicine and Science in Sports and Exercise
|January 15, 2011
PubMed
Summary
This summary is machine-generated.

Genetic variations in calcineurin genes are linked to endurance performance. Specific calcineurin gene polymorphisms show functional significance and are associated with elite endurance athletes in the Han Chinese population.

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Area of Science:

  • Genetics
  • Sports Science
  • Molecular Biology

Background:

  • The calcineurin signaling pathway is crucial for cardiac and skeletal muscle development.
  • Individual differences in endurance sports performance may be influenced by genetic variations in calcineurin genes.

Purpose of the Study:

  • To investigate the association between polymorphisms in calcineurin genes and elite endurance performance.
  • To analyze the functional significance of associated single nucleotide polymorphisms (SNPs).

Main Methods:

  • Compared genotypic/allelic frequencies of 55 SNPs in five calcineurin genes (PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2) between elite Han Chinese runners and controls.
  • Utilized dual-luciferase reporter assays to assess the functional impact of identified SNPs.

Main Results:

  • The C allele of PPP3CA rs3804358 was overrepresented in elite athletes (17% vs. 8%, P=0.003).
  • The T allele of PPP3CB rs3763679 was underrepresented in elite athletes (23% vs. 37%, P=0.001).
  • Functional assays showed increased luciferase activity for the associated alleles, but these findings were not replicated in a Caucasian cohort.

Conclusions:

  • Intronic polymorphisms in calcineurin genes possess functional significance.
  • Evidence suggests an association between specific calcineurin gene polymorphisms and elite endurance performance in the northern Han Chinese population.
  • Significant ethnic differences necessitate further research.