title: Genome-wide association studies and contribution to cardiovascular physiology.
abstract: The study of family pedigrees with rare monogenic cardiovascular disorders has revealed new molecular players in physiological processes. Genome-wide association studies of complex traits with a heritable component may afford a similar and potentially intellectually richer opportunity. In this review we focus on the interpretation of genetic associations and the issue of causality in relation to known and potentially new physiology. We mainly discuss cardiometabolic traits as it reflects our personal interests, but the issues pertain broadly in many other disciplines. We also describe some of the resources that are now available that may expedite follow up of genetic association signals into observations on causal mechanisms and pathophysiology.
authors.affiliation: Clinical Pharmacology and The Heart Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, United Kingdom.
authors.forename: Patricia B
authors.initials: PB
authors.lastname: Munroe
authors.affiliation: Clinical Pharmacology and The Heart Centre, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, United Kingdom a.tinker@qmul.ac.uk.
authors.forename: Andrew
authors.initials: A
authors.lastname: Tinker
mesh_terms: D000818:Animals; D002318:Cardiovascular Diseases / Q000235:genetics*; D002320:Cardiovascular Physiological Phenomena / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D018345:Mice, Knockout; D020641:Polymorphism, Single Nucleotide; D051381:Rats; D015027:Zebrafish / Q000235:genetics
keywords: cardiometabolic traits; cardiovascular physiology; genome-wide association studies