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PMID: 19630580 Published · ppublish English Journal Article Review

The HapMap and genome-wide association studies in diagnosis and therapy.

Annual review of medicine ·Vol. 60 ·2009-00-00 ·Pages 443-56

Manolio TA, Collins FS

Abstract

The International HapMap Project produced a genome-wide database of human genetic variation for use in genetic association studies of common diseases. The initial output of these studies has been overwhelming, with over 150 risk loci identified in studies of more than 60 common diseases and traits. These associations have suggested previously unsuspected etiologic pathways for common diseases that will be of use in identifying new therapeutic targets and developing targeted interventions based on genetically defined risk. Here we examine the development and application of the HapMap to genome-wide association (GWA) studies; present and future technologies for GWA research; current major efforts in GWA studies; successes and limitations of the GWA approach in identifying polymorphisms related to complex diseases; data release and privacy polices; use of these findings by clinicians, the public, and academic physicians; and sources of ongoing authoritative information on this rapidly evolving field.

MeSH Terms
Databases, Genetic Forecasting Genetic Diseases, Inborn/diagnosis,genetics,therapy Genetic Techniques/trends Genome-Wide Association Study Genomics Humans
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Manolio Teri A
National Human Genome Research Institute, Bethesda, Maryland 20892, USA, manolio@nih.gov
Collins Francis S
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Article Info
Journal
Annual review of medicine
Abbr.
Annu Rev Med
ISSN
1545-326X
DOI
10.1146/annurev.med.60.061907.093117
Email
manolio@nih.gov
Published
2009-00-00
Pages
443-56
Language
English
Region
United States
NLM ID
2985151R
PMCID
PMC2717504
Subset
IM
Grants
Intramural NIH HHS · Z99 HG999999 · United States
Corrections
CommentIn
PMID: 27659318
External Links
PubMed source DOI: 10.1146/annurev.med.60.061907.093117 PMC Full Text View journal details
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