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Author (up) Pearson, T.A.; Manolio, T.A. file  url
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  Title How to interpret a genome-wide association study Type Journal Article
  Year 2008 Publication JAMA Abbreviated Journal JAMA  
  Volume 299 Issue 11 Pages 1335-1344  
  Keywords *Genetic Research; *Genetics, Medical; *Genomics; Genotype; Humans; Patient Selection; *Polymorphism, Single Nucleotide; Quality Control; Research Design; Terminology as Topic  
  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.  
  Call Number Serial 2143  
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