Genome-wide association studies for complex traits: consensus, uncertainty and challenges.
The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
McCarthy
Mark I
MI
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. mark.mccarthy@drl.ox.ac.uk
Abecasis
Gonçalo R
GR
Cardon
Lon R
LR
Goldstein
David B
DB
Little
Julian
J
Ioannidis
John P A
JP
Hirschhorn
Joel N
JN
D000483:Alleles; D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D040641:Quantitative Trait Loci; D019655:Quantitative Trait, Heritable