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Patterns of linkage disequilibrium between SNPs in a sardinian population isolate and the selection of markers for association studies

机译：撒丁岛种群隔离群中SNP之间连锁不平衡的模式和关联研究标记的选择

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Objective: In isolated populations, 'background' linkage disequilibrium (LD) has been shown to extend over large genetic distances. This and their reduced environmental and genetic heterogeneity has stimulated interest in their potential for association mapping. We compared LD unit map distances with pair-wise measurements of LD in a dense single nucleotide polymorphism (SNP) set. Methods: We genotyped 771 SNPs in an 8 Mb segment of chromosome 22 on 101 individuals from the isolated village of Talana, Sardinia, and compared with outbred European populations. Results: Heterozygosity was remarkably similar in both populations. In contrast, the extent of LD observed was quite different. The decay of LD with distance is slower in the isolate. The differences in LD map lengths suggest that useful LD extends up to three times farther in the Sardinian population; smaller differences are seen with pairwise LD metrics. While LD map length slightly decreases with average relatedness, cryptic relatedness does not explain the decrease in LD map length. Haplotypes, block boundaries, and patterns of LD are similar in both populations, suggesting a shared distribution of recombination hotspots. Conclusions: About 15% fewer haplotype tagging SNPs need to be genotyped in the isolate, and possibly 70% fewer if selecting SNPs evenly spaced on the metric LD map. Copyright (c) 2008 S. Karger AG, Basel.
机译：目的：在孤立的人群中，“背景”连锁不平衡（LD）已显示出跨越较大的遗传距离。这种现象及其减少的环境和遗传异质性激发了人们对其关联作图潜力的兴趣。我们在密集的单核苷酸多态性（SNP）集中比较了LD单位图谱距离与LD的成对测量。方法：我们对来自撒丁岛塔拉纳村的101个个体的22个染色体的8 Mb片段中的771个SNP进行了基因分型，并与欧洲近交人群进行了比较。结果：两种人群的杂合度显着相似。相反，观察到的LD的程度却完全不同。分离物中LD随距离的衰减较慢。 LD分布图长度的差异表明，有用的LD分布在撒丁岛人口中的距离是后者的三倍。在成对的LD度量中看到较小的差异。虽然LD映射长度随平均相关性而略有减小，但隐秘的相关性不能解释LD映射长度的减小。两种种群的单倍型，块边界和LD模式相似，表明重组热点是共享分布的。结论：分离物中需要进行基因型单倍型标记的SNP约少15％，如果选择在度量LD图上平均间隔的SNP，则可能少70％。版权所有（c）2008 S. Karger AG，巴塞尔。

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