Expectations and challenges stemming from genome-wide association studies.

4.00
Hdl Handle:
http://hdl.handle.net/10146/83696
Title:
Expectations and challenges stemming from genome-wide association studies.
Authors:
Vineis, Paolo; Brennan, Paul; Canzian, Federico; Ioannidis, John P.A; Matullo, Giuseppe; Ritchie, Marylyn; Stromberg, Ulf; Taioli, Emanuela; Thompson, John
Abstract:
There are considerable expectations about the ability of genome-wide association (GWA) studies to make exciting discoveries about the role of genes in common diseases. GWA studies may allow researchers to identify causal pathways that have not been unveiled before, thus opening new avenues to disease understanding, prevention and therapy. However, there are still many open challenges. One is how to analyse these studies. The problem of false positives and false negatives provides an interesting methodological stimulus to find optimal solutions. Once main genetic effects have been concretely documented, the next question is how to proceed with the investigation of gene-gene and gene-environment interactions. It is possible that what really counts is not the main effect of genes but complex interactions. Finding and interpreting such interactions is not straightforward. Finally, continuous updated integration of all evidence, from both old studies, current GWA investigations and future replication studies, and careful interpretation of the strength of the evidence are crucial to maximize transparency and lead to informative selection of the next steps of research in this field. The present Commentary is a report of an Environmental Cancer Risk, Nutrition and Individual Susceptibility network Workshop held in Venice in October 2007 and discusses some of the problems outlined above, with examples.
Citation:
Mutagenesis 2008, 23 (6):439-444
Journal:
Mutagenesis
Issue Date:
Nov-2008
URI:
http://hdl.handle.net/10146/83696
DOI:
10.1093/mutage/gen042
PubMed ID:
18765424
Additional Links:
http://mutage.oxfordjournals.org/cgi/content/full/23/6/439
Type:
Article
Language:
en
ISSN:
1464-3804
Sponsors:
European Commission to the Environmental Cancer Risk, Nutrition and Individual Susceptibility Network of Excellence (grant FOOD-CT-2005-513943) (WP4-8).
Appears in Collections:
Articles

Full metadata record

DC FieldValue Language
dc.contributor.authorVineis, Paoloen
dc.contributor.authorBrennan, Paulen
dc.contributor.authorCanzian, Federicoen
dc.contributor.authorIoannidis, John P.Aen
dc.contributor.authorMatullo, Giuseppeen
dc.contributor.authorRitchie, Marylynen
dc.contributor.authorStromberg, Ulfen
dc.contributor.authorTaioli, Emanuelaen
dc.contributor.authorThompson, Johnen
dc.date.accessioned2009-10-07T07:39:58Z-
dc.date.available2009-10-07T07:39:58Z-
dc.date.issued2008-11-
dc.identifier.citationMutagenesis 2008, 23 (6):439-444en
dc.identifier.issn1464-3804-
dc.identifier.pmid18765424-
dc.identifier.doi10.1093/mutage/gen042-
dc.identifier.urihttp://hdl.handle.net/10146/83696-
dc.description.abstractThere are considerable expectations about the ability of genome-wide association (GWA) studies to make exciting discoveries about the role of genes in common diseases. GWA studies may allow researchers to identify causal pathways that have not been unveiled before, thus opening new avenues to disease understanding, prevention and therapy. However, there are still many open challenges. One is how to analyse these studies. The problem of false positives and false negatives provides an interesting methodological stimulus to find optimal solutions. Once main genetic effects have been concretely documented, the next question is how to proceed with the investigation of gene-gene and gene-environment interactions. It is possible that what really counts is not the main effect of genes but complex interactions. Finding and interpreting such interactions is not straightforward. Finally, continuous updated integration of all evidence, from both old studies, current GWA investigations and future replication studies, and careful interpretation of the strength of the evidence are crucial to maximize transparency and lead to informative selection of the next steps of research in this field. The present Commentary is a report of an Environmental Cancer Risk, Nutrition and Individual Susceptibility network Workshop held in Venice in October 2007 and discusses some of the problems outlined above, with examples.en
dc.description.sponsorshipEuropean Commission to the Environmental Cancer Risk, Nutrition and Individual Susceptibility Network of Excellence (grant FOOD-CT-2005-513943) (WP4-8).en
dc.language.isoenen
dc.relation.urlhttp://mutage.oxfordjournals.org/cgi/content/full/23/6/439en
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenome-Wide Association Studyen
dc.subjectPolymorphismen
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenome, Human-
dc.subject.meshGenome-Wide Association Study-
dc.subject.meshHumans-
dc.subject.meshPolymorphism, Genetic-
dc.titleExpectations and challenges stemming from genome-wide association studies.en
dc.typeArticleen
dc.identifier.journalMutagenesisen

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