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Expectations and challenges stemming from genome-wide association studies

Vineis, Paolo; Brennan, Paul; Canzian, Federico; Ioannidis, John P. A.; Matullo, Giuseppe; Ritchie, Marylyn; Strömberg, Ulf LU ; Taioli, Emanuela and Thompson, John (2008) In Mutagenesis 23(6). p.439-444
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Mutagenesis
volume
23
issue
6
pages
439 - 444
publisher
Oxford University Press
external identifiers
  • wos:000260557900002
  • scopus:55349120154
ISSN
0267-8357
DOI
10.1093/mutage/gen042
language
English
LU publication?
yes
id
efb69fb8-5903-46a7-8308-264499637fe9 (old id 1283852)
date added to LUP
2009-02-09 11:09:17
date last changed
2017-04-02 03:51:14
@misc{efb69fb8-5903-46a7-8308-264499637fe9,
  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.},
  author       = {Vineis, Paolo and Brennan, Paul and Canzian, Federico and Ioannidis, John P. A. and Matullo, Giuseppe and Ritchie, Marylyn and Strömberg, Ulf and Taioli, Emanuela and Thompson, John},
  issn         = {0267-8357},
  language     = {eng},
  number       = {6},
  pages        = {439--444},
  publisher    = {Oxford University Press},
  series       = {Mutagenesis},
  title        = {Expectations and challenges stemming from genome-wide association studies},
  url          = {http://dx.doi.org/10.1093/mutage/gen042},
  volume       = {23},
  year         = {2008},
}