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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Polymers: Molecular Weight Distribution01:10

Polymers: Molecular Weight Distribution

For any given polymer, the weight average molecular weight (Mw) is higher than, if not equal to, the number average molecular weight (Mn). The only situation in which the weight average molecular weight and the number average molecular weight are equal is when a polymer consists only of chains with equal molecular weight. However, this never happens in a synthetic polymer, since it is difficult to control the polymerization process up to a molecular level with accuracy to a hundred percent.
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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Related Experiment Video

Updated: Jun 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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Published on: June 21, 2018

Is there an optimum endurance polygenic profile?

Jonatan R Ruiz1, Félix Gómez-Gallego, Catalina Santiago

  • 1Department of Biosciences and Nutrition at NOVUM, Karolinska Institutet, Huddinge, Sweden.

The Journal of Physiology
|February 25, 2009
PubMed
Summary

Genetic variations influence endurance. While athletes show more favorable gene profiles, a perfect genetic score for endurance is rare, suggesting other factors contribute to elite performance.

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Area of Science:

  • Exercise Physiology
  • Human Genetics
  • Sports Science

Background:

  • Individual variations in endurance performance are significant.
  • Genetic factors are hypothesized to play a role in endurance capacity.
  • Seven candidate gene polymorphisms have been implicated in endurance traits.

Purpose of the Study:

  • To analyze seven genetic polymorphisms in relation to endurance performance.
  • To calculate the 'total genotype score' (TGS) for endurance in athletes and controls.
  • To determine the probability of an optimal polygenic endurance profile in the Spanish population.

Main Methods:

  • Genotyping of seven candidate polymorphisms (ACE, ACTN3, AMPD1, CKMM, HFE, GDF-8, PPARGC1A).
  • Calculation of Total Genotype Score (TGS) based on an established model.
  • Comparison of TGS between elite endurance athletes, controls, and the general Spanish population.

Main Results:

  • The probability of a 'perfect' polygenic endurance profile (TGS=100) is very low (approx. 0.07%).
  • Elite athletes exhibited a higher mean TGS (70.22) compared to controls (62.43) and the Spanish population (60.80).
  • No elite athlete achieved the theoretical maximum TGS; even top athletes had optimal scores for only up to six genes.

Conclusions:

  • A favorable polygenic profile is more common in endurance athletes.
  • Elite endurance performance likely results from a complex interplay of multiple genes and non-genetic factors.
  • Further research is needed to identify additional genetic and environmental influences on extreme endurance capacity.