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Nat Rev Genet. 2009 Jun;10(6):392-404. doi: 10.1038/nrg2579.

Detecting gene-gene interactions that underlie human diseases.

Author information

1
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. heather.cordell@ncl.ac.uk

Abstract

Following the identification of several disease-associated polymorphisms by genome-wide association (GWA) analysis, interest is now focusing on the detection of effects that, owing to their interaction with other genetic or environmental factors, might not be identified by using standard single-locus tests. In addition to increasing the power to detect associations, it is hoped that detecting interactions between loci will allow us to elucidate the biological and biochemical pathways that underpin disease. Here I provide a critical survey of the methods and related software packages currently used to detect the interactions between genetic loci that contribute to human genetic disease. I also discuss the difficulties in determining the biological relevance of statistical interactions.

PMID:
19434077
PMCID:
PMC2872761
DOI:
10.1038/nrg2579
[Indexed for MEDLINE]
Free PMC Article
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