Genome-wide association studies have opened a new era in the study of the genetic basis of common, multifactorial diseases
and traits. Before the introduction of this approach only a handful of common genetic variants showed consistent association
for any phenotype. Using genome-wide association, scores of novel and unsuspected loci have been discovered and later replicated
for many complex traits. The principle is to genotype a dense set of common genetic variants across the genomes of individuals
with phenotypic differences and examine whether genotype is associated with phenotype. Because the last common human ancestor
was relatively recent and recombination events are concentrated in focal hotspots, most common variation in the human genome
can be surveyed using a few hundred thousand variants acting as proxies for ungenotyped variants. Here, we describe the different
steps of genome-wide association studies and use a recent study as example.
Key words Genome-wide association study – GWAS – whole-genome association study – WGAS – complex genetics – common variation