On Sequence Variants that Influence the Risk of Common Diseases
Published Online: 15 JUL 2008
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Stefánsson, K. and Gulcher, J. R. 2008. On Sequence Variants that Influence the Risk of Common Diseases. eLS.
- Published Online: 15 JUL 2008
Sequence variants impacting risk of common diseases have the following characteristics: Most of the risk of common diseases is conferred by common variants of modest effect although there are rare variants of large effect that account for a small minority of cases. The risk variants are rarely in coding sequences. They generally influence expression of genes and in that determine where on the spectrum of physiologic function an individual falls. The risk variants are common because they have been under selection and carried with them advantage at some point in time or other alleles at their loci have conferred disadvantage.
- genome-wide association;
- common diseases;
- myocardial infarction