Document Detail

The rise and fall of the common disease-common variant (CD-CV) hypothesis: how the sickle cell disease paradigm led us all astray (or did it?).
MedLine Citation:
PMID:  18179390     Owner:  NLM     Status:  MEDLINE    
The common disease-common variant (CD-CV) hypothesis requires an explanation for the origin of the variation observed, since substantial neutral, but not deleterious, variation, that is, several alleles each at moderate to high frequency, can be maintained at any gene/locus by mutation. It is argued here that the guiding principle, not always stated, has been balancing selection, influenced by the well-established cases of deleterious alleles maintained through heterozygous advantage in the face of strong malarial selection against normal alleles. It is further argued that, although balanced polymorphisms have indeed arisen and reduced population loss through infectious disease, the history of balance in other contexts should have prevented acceptance of any hypothesis that generalized such a specific mechanism. Finally, it is suggested that in the present state of knowledge no single hypothesis for the genetical contribution to common disorders is justifiable.
Oliver Mayo
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Twin research and human genetics : the official journal of the International Society for Twin Studies     Volume:  10     ISSN:  1832-4274     ISO Abbreviation:  -     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-01-08     Completed Date:  2008-02-01     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101244624     Medline TA:  Twin Res Hum Genet     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  793-804     Citation Subset:  IM    
CSIRO Livestock Industries, Adelaide, SA, Australia.
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MeSH Terms
Genetic Diseases, Inborn / genetics*
Genetic Variation*
Genetics, Population
Malaria / genetics
Models, Genetic*
Polymorphism, Genetic
Selection, Genetic

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