Linkage disequilibrium in human populations

Lonjou, Christine, Zhang, Weihua, Collins, Andrew, Tapper, William J., Elahi, Eiram, Maniatis, Nikolas and Morton, Newton E. (2003) Linkage disequilibrium in human populations Proceedings of the National Academy of Sciences of the United States of America, 100, (10), pp. 6069-6074. (doi:10.1073/pnas.1031521100).


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Whereas the human linkage map appears on limited evidence to be constant over populations, maps of linkage disequilibrium (LD) vary among populations that differ in gene history. The greatest difference is between populations of sub-Saharan origin and populations remotely derived from Africa after a major bottleneck that reduced their heterozygosity and altered their Malecot parameters, increasing the intercept M that reflects association in founders and decreasing the exponential decline . Variation among populations within this ethnic dichotomy is much smaller. These observations validate use of a cosmopolitan LD map based on a sizeable sample representing a large population reliably typed for markers at high density. Then an LD map for a region or isolate within an ethnic group may be created by fitting the sample LD to the cosmopolitan map, estimating Malecot parameters simultaneously. The cosmopolitan map scaled by recovers 95% of the information that a local map at the same density gives and therefore more than the information in a low-resolution local map. Relative to a Eurasian cosmopolitan map the scaling factors are estimated to be 0.82 for isolates of European descent, 1.53 for Yorubans, and 1.74 for African Americans. These observations are consistent with a common bottleneck (perhaps but not necessarily speciation) 173,500 years ago, if the bottleneck associated with migration out of Africa was 100,000 years ago. Eurasian populations (especially isolates with numerous cases) are efficient for genome scans, and populations of recent African origin (such as African Americans) are efficient for identification of causal polymorphisms within a candidate sequence.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1073/pnas.1031521100
Additional Information: Published online before print April 29, 2003
ISSNs: 0027-8424 (print)
Related URLs:
Keywords: research support, ethnic groups, humans, reproducibility of results, europe,'t, linkage disequilibrium, chromosome mapping, population, history, geography, human, observation, genetic markers, france, genetics, genome, african americans

ePrint ID: 24836
Date :
Date Event
13 May 2003Published
Date Deposited: 06 Apr 2006
Last Modified: 16 Apr 2017 22:39
Further Information:Google Scholar

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