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PMID: 19434077 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Detecting gene-gene interactions that underlie human diseases.

Nature reviews. Genetics ·Vol. 10 ·No. 6 ·2009-06-00 ·Pages 392-404

Cordell HJ

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.

MeSH Terms
Epistasis, Genetic Genes/physiology Genetic Predisposition to Disease/genetics Genome-Wide Association Study Humans Polymorphism, Single Nucleotide
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Cordell Heather J
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. heather.cordell@ncl.ac.uk
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Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
DOI
10.1038/nrg2579
Email
heather.cordell@ncl.ac.uk
Published
2009-06-00
Pages
392-404
Language
English
Region
England
NLM ID
100962779
PMCID
PMC2872761
Subset
IM
Grants
Wellcome Trust · 074524 · United Kingdom
Corrections
CommentIn
PMID: 20084088
CommentIn
PMID: 21102529
External Links
PubMed source DOI: 10.1038/nrg2579 PMC Full Text View journal details
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