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International HapMap Project
International HapMap Project Overview
The elucidation of the entire human genome has made possible our current effort to develop a haplotype map of the human genome. The haplotype map, or "HapMap," will be a tool that will allow researchers to find genes and genetic variations that affect health and disease.
The DNA sequence of any two people is 99.9 percent identical. The variations, however, may greatly affect an individual's disease risk. Sites in the DNA sequence where individuals differ at a single DNA base are called single nucleotide polymorphisms (SNPs). Sets of nearby SNPs on the same chromosome are inherited in blocks. This pattern of SNPs on a block is a haplotype. Blocks may contain a large number of SNPs, but a few SNPs are enough to uniquely identify the haplotypes in a block. The HapMap is a map of these haplotype blocks and the specific SNPs that identify the haplotypes are called tag SNPs.
The HapMap should be valuable by reducing the number of SNPs required to examine the entire genome for association with a phenotype from the 10 million SNPs that exist to roughly 500,000 tag SNPs. This will make genome scan approaches to finding regions with genes that affect diseases much more efficient and comprehensive, since effort will not be wasted typing more SNPs than necessary and all regions of the genome can be included.
In addition to its use in studying genetic associations with disease, the HapMap should be a powerful resource for studying the genetic factors contributing to variation in response to environmental factors, in susceptibility to infection, and in the effectiveness of and adverse responses to drugs and vaccines. All such studies will be based on the expectation that there will be higher frequencies of the contributing genetic components in a group of people with a disease or particular response to a drug, vaccine, pathogen, or environmental factor than in a group of similar people without the disease or response. Using just the tag SNPs, researchers should be able to find chromosome regions that have different haplotype distributions in the two groups of people, those with a disease or response and those without. Each region would then be studied in more detail to discover which variants in which genes in the region contribute to the disease or response, leading to more effective interventions. This should also allow the development of tests to predict which drugs or vaccines would be most effective in individuals with particular genotypes for genes affecting drug metabolism.
International HapMap Project Reports and Related Project Information
International HapMap Project Relevant Papers
Daly, M.J., Rioux, J.D., Schaffner, S.F., Hudson, T.J., and Lander, E.S. High-resolution haplotype structure in the human genome. Nat. Genet. 29, 229-232. 2001. [Paper at nature.com]
Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., Liu-Cordero, S.N., Rotimi, C., Adeyemo, A., Cooper, R., Ward, R., Lander, E.S., Daly, M.J., Altshuler, D. The Structure of Haplotype Blocks in the Human Genome. Science, 296(5576):2225-9. 2002. (Look at the supplemental data, especially Fig. 1 also.) [Pubmed]
Goldstein, D.B., and Weale, M.E. Population genomics: Linkage disequilibrium holds the key. Curr. Biol 11, R576-579. 2001. 
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Reich, D.E., Cargill, M., Bolk, S., Ireland, J., Sabeti, P.C., Richter, D.J., Lavery, T., Kouyoumjian, R., Farhadian, S.F., Ward, R., and Lander, E.S. Linkage disequilibrium in the human genome. Nature, 411, 199-204. 2001. [Paper at nature.com]
International HapMap Project Related Research
International HapMap Project Funding Opportunities
- RFA HG-04-005 [grants1.nih.gov]: Additional Genotyping for the Human Haplotype Map (Expired: June 26, 2004)
- RFA HG-02-005 [grants1.nih.gov]: Large Scale Genotyping for the Haplotype Map of the Human Genome (Expired)
International HapMap Project Staff
Program Directors
Lisa D. Brooks, Ph.D.
E-mail: lisa_brooks@nih.gov
Jean McEwen, J.D., Ph.D.
E-mail: jm522@nih.gov
Vivian Ota Wang, Ph.D
E-mail: otawangv@mail.nih.gov
Michael Shi, M.D., Ph.D.
E-mail: mshi@mail.nih.gov
Program Analysts
Lynn Zacharia, MPH
E-mail: framptol@mail.nih.gov
Jonathan Witonsky
E-mail: jwitonsky@mail.nih.gov
Program Assistants
Edith DeHaut
E-mail: dehaute@mail.nih.gov
Address
National Human Genome Research Institute
National Institutes of Health
5635 Fishers Lane
Suite 4076, MSC 9305
Bethesda, MD 20892-9305
Phone: (301) 496-7531
Fax: (301) 480-2770
Last Reviewed: October 2004
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