Mutagenesis Advance Access originally published online on September 2, 2008
Mutagenesis 2008 23(6):439-444; doi:10.1093/mutage/gen042
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Expectations and challenges stemming from genome-wide association studies
Department of Epidemiology and Public Health, Imperial College London, St Mary's campus, Norfolk Place, London W2 1PG, UK 1International Agency for Research on Cancer, 69372 Lyon, France 2German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany 3Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, 45110, Greece 4ISI Foundation, 10100 Torino, Italy 5Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, TN 37232, USA 6Department of Occupational and Environmental Medicine, Lund University, SE-221 00 Lund, Sweden 7Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15232, USA 8Centre for Biostatistics and Genetic Epidemiology, Department of Health Sciences, University of Leicester, Leicester LE1 6TP, UK
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.
* To whom correspondence should be addressed; Tel: +44 2075943372; Fax: +44 2075943196; Email: p.vineis{at}imperial.ac.uk
Received on March 25, 2008; revised on July 18, 2008; accepted on July 28, 2008.
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