Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2009 Feb;10(2):235-41.
doi: 10.2217/14622416.10.2.235.

Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI's office of population genomics

Teri A Manolio  1
Affiliations
Review

Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI's office of population genomics

Teri A Manolio. Pharmacogenomics. 2009 Feb.

Abstract

In the past 3 years, genome-wide association (GWA) studies have revolutionized the discovery of genetic variants associated with complex diseases. These studies present unique challenges in their conduct; particularly in the need for meticulous quality control of genotyping and for sample sizes large enough to withstand the severe penalty for multiple comparisons necessitated by testing hundreds of thousands of SNPs. They also present unique opportunities in the unprecedented detail with which they characterize an individual's genome and the potential for relating that information to any trait consistent with that person's informed consent. Such data exceed the abilities of any single group of investigators to mine them fully and by NIH policy are distributed to qualified investigators agreeing to specified terms of use. This report describes collaborative programs of the National Human Genome Research Institute's Office of Population Genomics for facilitating collection, analysis, interpretation, and dissemination of these data so that their research value can be maximized.

PubMed Disclaimer

References

Bibliography

    1. Hunter DJ, Kraft P. Drinking from the fire hose – statistical issues in genomewide association studies. N. Engl. J. Med. 2007;357:436–439.Review of analytic challenges in genome-wide association (GWA) studies, particularly the problem of multiple comparisons and correction for potential inflated type I error.

    1. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature. 2001;411(6837):599–603. - PubMed
    1. McCarthy MI. Progress in defining the molecular basis of Type 2 diabetes mellitus through susceptibility-gene identification. Hum. Mol. Genet. 2004;13(Spec No 1):R33–R41. - PubMed
    1. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261:921–923. - PubMed

    1. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet. Med. 2002;4:45–61.Classic review of candidate gene association studies showing only six of 600 reported associations replicated consistently.

Websites

    1. Junkins HA, Hindorff LA, Manolio TA. National Human Genome Research Institute. A catalog of published genome-wide association studies. [Accessed 12/14/08]. http://www.genome.gov/GWAstudies.
    1. National Human Genome Research Institute Office of Population Genomics. http://www.genome.gov/19518660.
    1. Genes, Environment, and Health Initiative (GEI) http://genesandenvironment.nih.gov/
    1. Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) http://grants.nih.gov/grants/gwas/
    1. Genetic Association Information Network (GAIN) http://www.genome.gov/19518664. - PubMed