Genome-wide association studies and contribution to cardiovascular physiology
Author(s) -
Patricia B. Munroe,
Andrew Tinker
Publication year - 2015
Publication title -
physiological genomics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.078
H-Index - 112
eISSN - 1531-2267
pISSN - 1094-8341
DOI - 10.1152/physiolgenomics.00004.2015
Subject(s) - biology , genome wide association study , causality (physics) , genetic association , pedigree chart , association (psychology) , genetics , evolutionary biology , bioinformatics , psychology , gene , genotype , single nucleotide polymorphism , physics , quantum mechanics , psychotherapist
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.
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