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The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern

De La Vega, Francisco M., Isaac, Hadar, Collins, Andrew, Scafe, Charles R., Halldórsson, Bjarni V., Su, Xiaoping, Lippert, Ross A., Wang, Yu, Laig-Webster, Marion, Koehler, Ryan T., Ziegle, Janet S., Wogan, Lewis T., Stevens, Junko F., Leinen, Kyle M., Olson, Sheri J., Guegler, Karl J., You, Xiaoqing, Xu, Lily H., Hemken, Heinz G., Kalush, Francis, Itakura, Mitsuo, Zheng, Yi, de Thé, Guy, O'Brien, Stephen J., Clark, Andrew G., Istrail, Sorin, Hunkapiller, Michael W., Spier, Eugene G. and Gilbert, Dennis A. (2005) The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern Genome Research, 15, (4), pp. 454-462. (doi:10.1101/gr.3241705).

Record type: Article


The extent and patterns of linkage disequilibrium (LD) determine the feasibility of association studies to map genes that underlie complex traits. Here we present a comparison of the patterns of LD across four major human populations (African-American, Caucasian, Chinese, and Japanese) with a high-resolution single-nucleotide polymorphism (SNP) map covering almost the entire length of chromosomes 6, 21, and 22. We constructed metric LD maps formulated such that the units measure the extent of useful LD for association mapping. LD reaches almost twice as far in chromosome 6 as in chromosomes 21 or 22, in agreement with their differences in recombination rates. By all measures used, out-of-Africa populations showed over a third more LD than African-Americans, highlighting the role of the population's demography in shaping the patterns of LD. Despite those differences, the long-range contour of the LD maps is remarkably similar across the four populations, presumably reflecting common localization of recombination hot spots. Our results have practical implications for the rational design and selection of SNPs for disease association studies.

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Published date: April 2005
Keywords: pair 22, chromosomes, human, comparative study, genetic, demography, history, pair 6, pair 21, research support, population, polymorphism, recombination, genetics, linkage disequilibrium, single nucleotide, african americans, genes, disease, role, design,'t, african continental ancestry group, asian continental ancestry group, european continental ancestry group, chromosome mapping, humans


Local EPrints ID: 24679
ISSN: 1088-9051
PURE UUID: eaa855ed-5879-45fb-b5ba-0e145f00e43f
ORCID for Andrew Collins: ORCID iD

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Date deposited: 03 Apr 2006
Last modified: 17 Jul 2017 16:12

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Author: Francisco M. De La Vega
Author: Hadar Isaac
Author: Andrew Collins ORCID iD
Author: Charles R. Scafe
Author: Bjarni V. Halldórsson
Author: Xiaoping Su
Author: Ross A. Lippert
Author: Yu Wang
Author: Marion Laig-Webster
Author: Ryan T. Koehler
Author: Janet S. Ziegle
Author: Lewis T. Wogan
Author: Junko F. Stevens
Author: Kyle M. Leinen
Author: Sheri J. Olson
Author: Karl J. Guegler
Author: Xiaoqing You
Author: Lily H. Xu
Author: Heinz G. Hemken
Author: Francis Kalush
Author: Mitsuo Itakura
Author: Yi Zheng
Author: Guy de Thé
Author: Stephen J. O'Brien
Author: Andrew G. Clark
Author: Sorin Istrail
Author: Michael W. Hunkapiller
Author: Eugene G. Spier
Author: Dennis A. Gilbert

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