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IJE Advance Access originally published online on April 30, 2007
International Journal of Epidemiology 2007 36(2):445-448; doi:10.1093/ije/dym055
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Published by Oxford University Press on behalf of the International Epidemiological Association © The Author 2007; all rights reserved.

Commentary: Rare alleles, modest genetic effects and the need for collaboration

H Campbell* and T Manolio

Division of Community Health Sciences, Public Health Sciences, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK.

*Corresponding author. Division of Community Health Sciences, Public Health Sciences, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK. E-mail: harry.campbell@ed.ac.uk

Accepted 1 March 2007

The first 150 words of the full text of this article appear below.

The article by Khoury et al.1 presents a useful overview of some of the complex issues facing those trying to identify genetic variants underlying common complex disease. They focus on the common disease—common variant model where effect sizes associated with individual genetic variants are small. Undoubtedly this will be the case for most, but not all, variants. An L-shaped or exponential distribution of mutation effect sizes has wide support 2–4 with many variants with small effects, a smaller number with intermediate effects and relatively few with large effects. It could be argued that the genetic variants related to human disease that have been identified to date primarily reflect the study designs used to identify them. Linkage studies conducted among families with multiple cases of disease were successful in identifying highly penetrant variants with large effects. Association studies conducted in general population samples using common genetic markers typically find low penetrance . . . [Full Text of this Article]


   Interpretation of findings from GWA studies
 

   Need for planned international collaboration and data sharing
 

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