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Nat Genet. 2006 May;38(5):556-60. Epub 2006 Apr 2.

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.

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Center for Neurobehavioral Genetics, University of California, Los Angeles, California 90095, USA.


The genome-wide distribution of linkage disequilibrium (LD) determines the strategy for selecting markers for association studies, but it varies between populations. We assayed LD in large samples (200 individuals) from each of 11 well-described population isolates and an outbred European-derived sample, using SNP markers spaced across chromosome 22. Most isolates show substantially higher levels of LD than the outbred sample and many fewer regions of very low LD (termed 'holes'). Young isolates known to have had relatively few founders show particularly extensive LD with very few holes; these populations offer substantial advantages for genome-wide association mapping.

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