title: Whole genome association studies in complex diseases: where do we stand?
abstract: Hundreds of genome-wide association studies have been performed in recent years in order to try to identify common variants that associate with complex disease. These have met with varying success. Some of the strongest effects of common variants have been found in late-onset diseases and in drug response. The major histocompatibility complex has also shown very strong association with a variety of disorders. Although there have been some notable success stories in neuropsychiatric genetics, on the whole, common variation has explained little of the high heritability of these traits. In contrast, early studies of rare copy number variants have led rapidly to a number of genes and loci that strongly associate with neuropsychiatric disorders. It is likely that the use of whole-genome sequencing to extend the study of rare variation in neuropsychiatry will greatly advance our understanding of neuropsychiatric genetics.
authors.affiliation: Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA.
authors.forename: Anna C
authors.initials: AC
authors.lastname: Need
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
mesh_terms: D002874:Chromosome Mapping; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D001523:Mental Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008957:Models, Genetic; D010597:Pharmacogenetics