The genetic architecture of psychophysiological phenotypes.
It is now clear that almost all complex traits have a highly polygenic component; that is, their genetic basis consists of relatively frequent risk alleles at a very large number of loci, each making a small contribution to variation, or disease susceptibility. This general conclusion appears to hold for intermediate phenotypes. Therefore, we should not expect these phenotypes to be associated with substantially larger effect sizes than conventional phenotypes. Instead, their usefulness is likely to lie in understanding the mechanism underpinning associations identified via genome-wide association studies of conventional phenotypes.
MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK; UK Centre for Tobacco and Alcohol Studies and School of Experimental Psychology, University of Bristol, Bristol, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Marcus R
MR
Munafò
Jonathan
J
Flint
D001921:Brain / Q000502:physiology*; D055106:Genome-Wide Association Study; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
Genetic architecture; Genetics; Genome-wide association study; Intermediate phenotypes