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arXiv 1312.2675q-bio.PE
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对29,141名非洲裔美国人的全基因组扫描发现,自混合以来没有选择的证据

Genome-wide scan of 29,141 African Americans finds no evidence of selection since admixture

Gaurav Bhatia, Arti Tandon, Melinda C. Aldrich, Christine B. Ambrosone, Christopher Amos, Elisa V. Bandera, Sonja I. Berndt, Leslie Bernstein, William J. Blot, … 展开作者

Gaurav Bhatia, Arti Tandon, Melinda C. Aldrich, Christine B. Ambrosone, Christopher Amos, Elisa V. Bandera, Sonja I. Berndt, Leslie Bernstein, William J. Blot, Cathryn H. Bock, Neil Caporaso, Graham Casey, Sandra L. Deming, W. Ryan Diver, Susan M. Gapstur, Elizabeth M. Gillanders, Curtis C. Harris, Brian E. Henderson, Sue A. Ingles, William Isaacs, Esther M. John, Rick A. Kittles, Emma Larkin, Lorna H. McNeill, Robert C. Millikan, Adam Murphy, Christine Neslund-Dudas, Sarah Nyante, Michael F. Press, Jorge L. Rodriguez-Gil, Benjamin A. Rybicki, Ann G. Schwartz, Lisa B. Signorello, Margaret Spitz, Sara S. Strom, Margaret A. Tucker, John K. Wiencke, John S. Witte, Xifeng Wu, Yuko Yamamura, Krista A. Zanetti, Wei Zheng, Regina G. Ziegler, Stephen J. Chanock, Christopher A. Haiman, David Reich, Alkes L. Price

摘要:

我们扫描了29,141名非洲裔美国人的基因组,寻找非洲血统的平均比例与全基因组平均值显著偏离的基因座。我们没有发现任何基因组范围内的显著偏差,并得出结论,任何选择在非洲裔美国人,因为混合物是足够弱,它低于我们的权力,以检测它使用一个大的样本量的阈值。这些结果与最近一项关于非裔美国人选择的研究结果形成鲜明对比。该研究的样本少了15倍,报告了6个具有显著偏差的位点。我们发现,这种差异可能是由于在以前的研究中,多个假设检验的校正不足。同一项研究报告了14个基因座,这些基因座显示非洲裔美国人和尼日利亚约鲁巴人之间的种群分化比在没有自然选择的情况下预期的要大。四个这样的基因座以前被证明是全基因组显着的,可能会受到选择的影响,但我们发现,大多数的10个额外的基因座很可能是假阳性。此外,对于那些有显著证据表明埃塞俄比亚人和非洲裔美国人之间频率存在异常差异的基因座,最简单的解释是在被迫迁移到美洲之前在非洲的选择。

英文摘要:

We scanned through the genomes of 29,141 African Americans, searching for loci where the average proportion of African ancestry deviates significantly from the genome-wide average. We failed to find any genome-wide significant deviations, and conclude that any selection in African Americans since admixture is sufficiently weak that it falls below the threshold of our power to detect it using a large sample size. These results stand in contrast to the findings of a recent study of selection in African Americans. That study, which had 15 times fewer samples, reported six loci with significant deviations. We show that the discrepancy is likely due to insufficient correction for multiple hypothesis testing in the previous study. The same study reported 14 loci that showed greater population differentiation between African Americans and Nigerian Yoruba than would be expected in the absence of natural selection. Four such loci were previously shown to be genome-wide significant and likely to be affected by selection, but we show that most of the 10 additional loci are likely to be false positives. Additionally, the most parsimonious explanation for the loci that have significant evidence of unusual differentiation in frequency between Nigerians and Africans Americans is selection in Africa prior to their forced migration to the Americas.

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