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Isolated Populations and Common Variants 

Isolated Populations and Common Variants

Chapter:
Isolated Populations and Common Variants
Author(s):

Karola Rehnström

and Leena Peltonen

DOI:
10.1093/med/9780195371826.003.0049
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date: 23 June 2017

Isolated populations are defined as populations originating from a small number of founders, experiencing only limited immigration, and where expansion has primarily taken place through population growth. The lack of immigration often results from either geographical or cultural isolation. Isolated populations have been used successfully in genetic mapping of Mendelian disorders because of the reduced genetic heterogeneity. Emerging results from genome-wide association studies suggest that for some phenotypes, isolated populations also offer advantages in mapping of common genetic risk factors. As each isolate is uniquely different because of different demographic histories, careful characterization of the population substructure is crucial for optimal study design.

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