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Variation in human ventilatory control-genetic influence on the hypoxic ventilatory response
1Department of Medicine, Cardiovascular Pulmonary Research Laboratory B-133, University of Colorado Health Science Center, Denver, CO 80262, USA. john.weil@uchsc.edu
Respiratory Physiology & Neurobiology
|June 18, 2003
Summary
Genetic factors significantly influence how individuals respond to low oxygen levels (hypoxia). Studies show family patterns and twin similarities point to a genetic basis for variations in breathing responses.
Area of Science:
- Physiology
- Genetics
- Respiratory Medicine
Background:
- Individual variability in ventilatory response to hypoxia is well-documented.
- Observed familial clustering of low hypoxic ventilatory response (HVR) suggests a genetic component.
- Studies comparing monozygotic and dizygotic twins indicate a greater genetic influence on HVR.
Purpose of the Study:
- To investigate the role of genetic factors in the variability of the human ventilatory response to hypoxia.
- To explore the link between genetic predisposition and peripheral chemosensitivity.
Main Methods:
- Analysis of ventilatory responses to hypoxia in human subjects.
- Comparison of HVR similarity in monozygotic versus dizygotic twins.
- Review of existing family and animal studies (cats, rats) on chemosensitivity.
Main Results:
- Significant variation in hypoxic ventilatory response among individuals.
- Greater similarity in HVR observed in monozygotic twins compared to dizygotic twins.
- Evidence suggests genetic influence on peripheral chemosensitivity, particularly affecting the carotid body.
Conclusions:
- Genetic factors play a substantial role in determining an individual's ventilatory response to hypoxia.
- The genetic influence appears specific to the hypoxic response, potentially mediated by peripheral chemoreceptors.
- Further research into the genetic basis of carotid body function is warranted.
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