Progress and Promise of Genome-wide Association Studies for Human Complex Trait Genetics -- Stranger et al., 10.1534/genetics.110.120907 -- Genetics

Genetics. 2010 Nov 29. [Epub ahead of print]
Progress and Promise of Genome-wide Association Studies for Human Complex Trait Genetics.

Stranger BE, Stahl EA, Raj T.

Brigham and Women's Hospital / Harvard Medical School/Broad Institute.

Abstract

Enormous progress in mapping complex traits in humans has been made in the last five years. There has been early success for prevalent diseases with complex phenotypes. These studies have demonstrated clearly that, while complex traits differ in their underlying genetic architectures, for many common disorders the predominant pattern is that of many loci, individually with small effects on phenotype. For some traits, loci of large effect have been identified. For almost all complex traits studied in humans, the sum of the identified genetic effects comprises only a portion, generally less than half, of the estimated trait heritability. A variety of hypotheses have been proposed to explain why this might be the case, including untested rare variants, and gene-gene and geneenvironment interaction. Effort is currently being directed towards implementation of novel analytic approaches, and testing rare variants for association with complex traits using imputed variants from publicly-available 1000 Genomes re-sequencing data and from direct re-sequencing of clinical samples. Through integration with annotations and functional genomic data as well as by in vitro and in vivo experimentation, mapping studies continue to characterize functional variants associated with complex traits, and address fundamental issues such as epistasis and pleiotropy. This review focuses primarily on the ways in which genome-wide association studies (GWAS) have revolutionized the field of human quantitative genetics.
Progress and Promise of Genome-wide Association St... [Genetics. 2010] - PubMed result

PMID: 21115973 [PubMed - as supplied by publisher]
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Progress and Promise of Genome-wide Association Studies for Human Complex Trait Genetics -- Stranger et al., 10.1534/genetics.110.120907 -- Genetics