How to interpret a genome-wide association study.

@article{citeulike:2609900, abstract = {Genome-wide association (GWA) studies use high-throughput genotyping technologies to assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to clinical conditions and measurable traits. Since 2005, nearly 100 loci for as many as 40 common diseases and traits have been identified and replicated in GWA studies, many in genes not previously suspected of having a role in the disease under study, and some in genomic regions containing no known genes. GWA studies are an important advance in discovering genetic variants influencing disease but also have important limitations, including their potential for false-positive and false-negative results and for biases related to selection of study participants and genotyping errors. Although these studies are clearly many steps removed from actual clinical use, and specific applications of GWA findings in prevention and treatment are actively being pursued, at present these studies mainly represent a valuable discovery tool for examining genomic function and clarifying pathophysiologic mechanisms. This article describes the design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance.}, address = {Office of Population Genomics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-2154, USA.}, author = {Pearson, T. A. and Manolio, T. A. }, citeulike-article-id = {2609900}, doi = {10.1001/jama.299.11.1335}, issn = {1538-3598}, journal = {JAMA}, keywords = {gwa}, month = {March}, number = {11}, pages = {1335--1344}, posted-at = {2008-03-29 03:11:56}, priority = {2}, title = {How to interpret a genome-wide association study.}, url = {http://dx.doi.org/10.1001/jama.299.11.1335}, volume = {299}, year = {2008} }

TY - JOUR ID - citeulike:2609900 L3 - citeulike-article-id:2609900 TI - How to interpret a genome-wide association study. JF - JAMA VL - 299 IS - 11 SP - 1335 EP - 1344 AD - Office of Population Genomics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-2154, USA. SN - 1538-3598 N2 - Genome-wide association (GWA) studies use high-throughput genotyping technologies to assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to clinical conditions and measurable traits. Since 2005, nearly 100 loci for as many as 40 common diseases and traits have been identified and replicated in GWA studies, many in genes not previously suspected of having a role in the disease under study, and some in genomic regions containing no known genes. GWA studies are an important advance in discovering genetic variants influencing disease but also have important limitations, including their potential for false-positive and false-negative results and for biases related to selection of study participants and genotyping errors. Although these studies are clearly many steps removed from actual clinical use, and specific applications of GWA findings in prevention and treatment are actively being pursued, at present these studies mainly represent a valuable discovery tool for examining genomic function and clarifying pathophysiologic mechanisms. This article describes the design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance. KW - gwa AU - Pearson, TA AU - Manolio, TA PY - 2008/03/19/ UR - http://dx.doi.org/10.1001/jama.299.11.1335 ER -