Article
Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.
PloS one - 1 Jan 2015
Siegert Sabine, Wolf Andreas, Cooper David N, Krawczak Michael, Nothnagel Michael
Abstract excerpt
Guided by the practice of classical epidemiology, research into the genetic basis of complex disease has usually taken for granted the dictum that causative mutations are invariably over-represented among clinically affected as compared to unaffected individuals. However, we show that this supposition is not true and that a mutation contributing to the etiology of a complex disease can, under certain...
Topics
- Epidemiology
- Genetic Loci
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Humans
- Models, Genetic
- Mutation
- Penetrance
- Phylogeny
- Risk Factors