Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

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Extensive Linkage Disequilibrium in Small Human Populations in Eurasia Henrik Kaessmann, Sebastian Zöllner, Anna C. Gustafsson, Victor Wiebe, Maris Laan, Joakim Lundeberg, Mathias Uhlén, Svante Pääbo  The American Journal of Human Genetics  Volume 70, Issue 3, Pages 673-685 (March 2002) DOI: 10.1086/339258 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 LD of SNP pairs in ACE, β-globin, LPL, and Xq13.3, for the four populations studied. For each population, only SNPs where the minor allele occurs at a frequency >0.1 are shown, since other SNPs are unlikely to show significant LD with this sample size. Orders of magnitude of significance values of pairwise associations (by Fisher's exact test) are given. SNP pairs showing significant LD (P<10−6) are shaded (red). Number 44 is the single SNP from the MX region. LD of SNP pairs in Xq13.3 is shown on the right. Interlocus LD of SNPs from Xq13.3 for Finns and Swedes was not calculated because of sample-size differences between Xq13.3 and the other loci. The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 The proportion of SNP pairs showing significant association (P<10−6) versus distance. The pattern in each bar indicates the different populations: Evenki (diagonal lines), Saami (white), Finns (horizontal and vertical lines), and Swedes (black). The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Relationship between mean level of LD (as measured by D′) and the distance between SNPs in ACE, β-globin, LPL, and Xq13.3 for the four populations studied. The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 4 Minor-allele frequencies of 50 SNPs from ACE, β-globin, LPL, MX, and Xq13.3 for the four populations studied The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 5 Average allele-frequency differences between pairs of populations. The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 6 Overview of distributions of haplotypes that occur at a frequency >0.1 in at least one population. The missing piece of each pie chart represents haplotypes that occur in frequencies <0.1 in all populations. The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 7 Average haplotype-frequency differences (for haplotypes occurring at a frequency >0.1 in at least one population) between populations studied. The American Journal of Human Genetics 2002 70, 673-685DOI: (10.1086/339258) Copyright © 2002 The American Society of Human Genetics Terms and Conditions