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On Sequence Variants that Influence the Risk of Common Diseases

  1. Kári Stefánsson,
  2. Jeffrey R Gulcher

Published Online: 15 JUL 2008

DOI: 10.1002/9780470015902.a0020817

eLS

eLS

How to Cite

Stefánsson, K. and Gulcher, J. R. 2008. On Sequence Variants that Influence the Risk of Common Diseases. eLS. .

Author Information

  1. deCODE genetics, Reykjavík, Iceland

Publication History

  1. Published Online: 15 JUL 2008

Abstract

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.

Keywords:

  • selection;
  • genome-wide association;
  • genetics;
  • common diseases;
  • diabetes;
  • myocardial infarction