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Updated: Jun 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Genetics and sports.

Giuseppe Lippi¹, Umile Giuseppe Longo, Nicola Maffulli

¹Sezione di Chimica Clinica, Università di Verona, Italy.

British Medical Bulletin

|February 12, 2009

Summary

This summary is machine-generated.

Genetic factors significantly influence athletic performance, impacting endurance, muscle strength, and injury risk. While promising, environmental and psychological elements also shape an athlete's success, necessitating further research into genetic testing in sports.

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Area of Science:

Sports science
Human genetics
Exercise physiology

Background:

Individual exercise capacity is multifactorial, influenced by psychology, environment, and genetics.
Sport performance is recognized as a polygenic trait, making genetics a key area of study.

Purpose of the Study:

To explore the genetic underpinnings of athletic performance.
To identify potential applications of genetic insights in sports training and injury prevention.

Main Methods:

A literature search was conducted on PubMed using keywords 'sports' and 'genetics' from 1990 to the present.
Review of existing research on the genetic basis of physical performance phenotypes.

Main Results:

Genetic predispositions are suspected for endurance capacity, muscle performance, trainability, and injury resilience.
Genetic testing could identify individuals with optimal physiology and enhanced training adaptation, alongside reduced injury risk.

Conclusions:

The link between genetics and sports performance shows significant promise.
Further research is needed to assess the utility and cost-effectiveness of genome-wide genotyping in sports.
Genetic research in sports can illuminate human biology and physiological regulation, including gene expression in response to exercise.