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What are genome-wide association studies?

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Genome-wide association studies are a relatively new way for scientists to identify genes involved in human disease. This method searches the genome for small variations, called single nucleotide polymorphisms or SNPs (pronounced “snips”), that occur more frequently in people with a particular disease than in people without the disease. Each study can look at hundreds or thousands of SNPs at the same time. Researchers use data from this type of study to pinpoint genes that may contribute to a person’s risk of developing a certain disease.

Because genome-wide association studies examine SNPs across the genome, they represent a promising way to study complex, common diseases in which many genetic variations contribute to a person’s risk. This approach has already identified SNPs related to several complex conditions including diabetes, heart abnormalities, Parkinson disease, and Crohn disease. Researchers hope that future genome-wide association studies will identify more SNPs associated with chronic diseases, as well as variations that affect a person’s response to certain drugs and influence interactions between a person’s genes and the environment.

For more information about genome-wide association studies:

The National Human Genome Research Institute provides a detailed explanation of genome-wide association studiesThis link leads to a site outside Genetics Home Reference..

Nature Education’s Scitable provides an explanation of genome-wide association studies and how they assist in estimating the riskThis link leads to a site outside Genetics Home Reference. of disease.

Genomics Unzipped explains how to read a genome-wide association studyThis link leads to a site outside Genetics Home Reference..

You can also search for clinical trials of genome-wide association studies online. ClinicalTrials.govThis link leads to a site outside Genetics Home Reference., a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition or trial sponsor. You may wish to refer to a list of genome-wide association studiesThis link leads to a site outside Genetics Home Reference. that are accepting (or will accept) participants.

For people interested in more technical information, the NCBI’s Database of Genotype and Phenotype (dbGaP)This link leads to a site outside Genetics Home Reference. contains data from genome-wide association studies. An introduction to this database, as well as information about study results, is available from the dbGaP press releaseThis link leads to a site outside Genetics Home Reference.. In addition, the National Human Genome Research Institute provides a Catalog of Published Genome-Wide Association StudiesThis link leads to a site outside Genetics Home Reference..


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Published: October 20, 2014