Related Experiment Video
Updated: Jun 18, 2026
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Gene polymorphisms and elite athletic performance
1Dipartimento di Biologia Sperimentale, Sezione di Scienze Antropologiche, Universitá di Cagliari Cittadella Universitaria, SS 554 (km 4,5), 09042 Monserrato, Cagliari,Italy. cmcalo@unica.it
Journal of Anthropological Sciences = Rivista Di Antropologia : JASS
|November 26, 2009
Summary
Genetic variations play a role in athletic performance, influencing endurance and power. While gene polymorphisms are increasingly studied, results must be interpreted cautiously due to potential confounding factors.
Area of Science:
- Sports Science
- Genetics
- Exercise Physiology
Background:
- Individual differences in athletic performance are significant, even in trained athletes.
- Research increasingly explores the interplay of physiology, biochemistry, and genetics in exercise.
- Gene polymorphisms are emerging as important factors influencing athletic capabilities.
Purpose of the Study:
- To review the role of gene polymorphisms in athletic performance.
- To discuss the potential of genetic analysis as a predictive factor in sports.
- To highlight the complexities and caveats in interpreting genetic association studies.
Main Methods:
- Review of current scientific literature on gene-sport performance associations.
- Analysis of studies investigating autosomal, X-chromosome, and mitochondrial DNA (mtDNA) genes.
- Discussion of factors influencing the interpretation of genetic association findings.
Main Results:
- Numerous genes (165 autosomal, 5 X-chromosome, 17 mtDNA) are linked to sport performance and fitness phenotypes.
- Gene polymorphisms can influence specific physiological pathways relevant to performance.
- Caution is advised due to potential for chance findings, false positives, and sample heterogeneity.
Conclusions:
- Genetic factors contribute to variations in athletic performance.
- Genetic analysis shows promise but requires careful validation and interpretation.
- Further research is needed to understand the complex genetic architecture of athletic traits.
Related Concept Videos
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:27Pharmacogenetics of Drug Metabolism: Overview
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...