Measures of human population structure show heterogeneity among genomic regions
Measures of human population structure show heterogeneity among genomic regions
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DOI：
10.1101/gr.4398405
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发表时间：
2005-11-01
期刊：
影响因子：
7
通讯作者：
Hill, WG
中科院分区：
文献类型：
--
作者：
Weir, BS;Cardon, LR;Hill, WG
从两个大型SNP数据集中的所有常染色体构建遗传群体结构（F-ST）估计。Perlegen数据集包含了在非洲、亚洲和欧洲血统的美国人的所有三个样本中分离的类似100万个snp的基因型；I期HapMap数据集包含来自特定高加索人、中国人、日本人和约鲁巴人的所有四个样本中相似的60万个snp的基因型。尽管两个数据集之间存在相似性，但在染色体内的片段之间发现F值存在实质性异质性。种群特异性FST值之间也存在很大的异质性，这些值的相对大小通常沿着每条染色体变化。种群结构估计值通常被用作自然选择的指标，但本文提出的分析表明，个体标记估计值变化太大，无法发挥作用。即使在中性位点之间，由于谱系的变化，这些统计数据也存在固有的差异，并且位点对的值在一定程度上反映了它们之间的连锁不平衡。此外，选择的最佳指示可能来自特定种群的FIT值，而不是通常报告的种群平均值。
Estimates of genetic population structure (F-ST) were constructed from all autosomes in two large SNP data sets. The Perlegen data set contains genotypes on similar to 1 million SNPs segregating in all three samples of Americans of African, Asian, and European descent; and the Phase I HapMap data set contains genotypes on similar to 0.6 million SNPs segregating in all four samples from specific Caucasian, Chinese, Japanese, and Yoruba populations. Substantial heterogeneity of F,, values was found between segments within chromosomes, although there was similarity between the two data sets. There was also substantial heterogeneity among population-specific FST values, with the relative sizes of these values often changing along each chromosome. Population-structure estimates are often used as indicators of natural selection, but the analyses presented here show that individual-marker estimates are too variable to be useful. There is inherent variation in these statistics because of variation in genealogy even among neutral loci, and values at pairs of loci are correlated to an extent that reflects the linkage disequilibrium between them. Furthermore, it may be that the best indications of selection will come from population-specific FIT values rather than the usually reported population-average values.