TY - JOUR
T1 - β-Adrenoceptor gene variation and intermediate physiological traits
T2 - Prediction of distant phenotype
AU - Eisenach, John H.
AU - Wittwer, Erica D.
PY - 2010/7
Y1 - 2010/7
N2 - Intermediate physiological phenotype is the genetic and environmental influence on functional physiological characteristics with direct prognostic relevance to distant, more complex phenotypes, such as cardiovascular and metabolic disease. Increasingly available and affordable genotyping techniques have created an explosion of information on candidate gene variation and its relationship to intermediate physiological traits. Variation in β-adrenoceptor genes is an intense focus of investigation because β-adrenoceptors are: (1) ubiquitous in organ system distribution; (2) integral to a multitude of physiological processes; (3) well described in cardiovascular and metabolic disease; and (4) major pharmacological treatment targets. Furthermore, knowledge of functional gene variants in these receptors predates the description of the human genome. This review highlights the influence of common gene variation in the three β-adrenoceptor subtypes on intermediate physiological phenotype predictive of cardiovascular disease and obesity. Although further information is needed to replicate this information across populations, this review condenses and summarizes growing trends in specific pleiotropic effects of β-adrenoceptor polymorphisms and suggests which variants may be predictive of distant phenotype.
AB - Intermediate physiological phenotype is the genetic and environmental influence on functional physiological characteristics with direct prognostic relevance to distant, more complex phenotypes, such as cardiovascular and metabolic disease. Increasingly available and affordable genotyping techniques have created an explosion of information on candidate gene variation and its relationship to intermediate physiological traits. Variation in β-adrenoceptor genes is an intense focus of investigation because β-adrenoceptors are: (1) ubiquitous in organ system distribution; (2) integral to a multitude of physiological processes; (3) well described in cardiovascular and metabolic disease; and (4) major pharmacological treatment targets. Furthermore, knowledge of functional gene variants in these receptors predates the description of the human genome. This review highlights the influence of common gene variation in the three β-adrenoceptor subtypes on intermediate physiological phenotype predictive of cardiovascular disease and obesity. Although further information is needed to replicate this information across populations, this review condenses and summarizes growing trends in specific pleiotropic effects of β-adrenoceptor polymorphisms and suggests which variants may be predictive of distant phenotype.
UR - http://www.scopus.com/inward/record.url?scp=77953627754&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77953627754&partnerID=8YFLogxK
U2 - 10.1113/expphysiol.2009.048330
DO - 10.1113/expphysiol.2009.048330
M3 - Review article
C2 - 20382665
AN - SCOPUS:77953627754
SN - 0958-0670
VL - 95
SP - 757
EP - 764
JO - Experimental physiology
JF - Experimental physiology
IS - 7
ER -