Genome-wide patterns of population structure and admixture among Hispanic/Latino populations
Genome-wide patterns of population structure and admixture among Hispanic/Latino populations
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DOI：
10.1073/pnas.0914618107
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发表时间：
2010-05-11
影响因子：
11.1
通讯作者：
Ostrer, Harry
中科院分区：
文献类型：
--
作者：
Bryc, Katarzyna;Velez, Christopher;Ostrer, Harry
西班牙裔/拉丁裔人口具有复杂的遗传结构，反映了美洲原住民，欧洲人和西非来源人口之间的最近混合和潜在的古老亚结构。在这里，我们量化了来自厄瓜多尔，哥伦比亚，波多黎各和多米尼加共和国的100个祖先在Illumina 610-Quad阵列上进行基因分型的个体和112个墨西哥人在Affytek 500 K平台上进行基因分型的全基因组SNP和单倍型变异模式。交叉这些数据与以前收集的高密度SNP数据从4，305个人，我们使用主成分分析和聚类方法FRAPPE和结构，调查非洲，欧洲和美洲原住民的人口结构的全基因组模式内和西班牙裔/拉丁裔人口。比较常染色体，X和Y染色体，和mtDNA的变异，我们发现一个显着的性别偏见的混合比例与欧洲男性和美洲原住民女性祖先的不成比例的贡献，以现今的人口相一致的证据。我们还发现，在混合的西班牙裔/拉丁裔人口的联系不平衡的模式在很大程度上受人口的混合动力学，更快的衰减LD在更高的非洲血统的人口。最后，利用基因座特异性祖先推断方法LAMP，我们重建了混合物的精细尺度染色体模式。我们的文件中等功率，以区分潜在的次大陆源人口内的美洲原住民，欧洲和非洲部分的混合西班牙裔/拉丁裔基因组。我们的研究结果表明，未来在西班牙裔/拉丁裔人群的全基因组关联扫描可能需要在次大陆范围内对当地基因组血统进行校正，将基因组差异与疾病风险，进展和药物疗效以及混合物映射联系起来。
Hispanic/Latino populations possess a complex genetic structure that reflects recent admixture among and potentially ancient substructure within Native American, European, and West African source populations. Here, we quantify genome-wide patterns of SNP and haplotype variation among 100 individuals with ancestry from Ecuador, Colombia, Puerto Rico, and the Dominican Republic genotyped on the Illumina 610-Quad arrays and 112 Mexicans genotyped on Affymetrix 500K platform. Intersecting these data with previously collected high-density SNP data from 4,305 individuals, we use principal component analysis and clustering methods FRAPPE and STRUCTURE to investigate genome-wide patterns of African, European, and Native American population structure within and among Hispanic/Latino populations. Comparing autosomal, X and Y chromosome, and mtDNA variation, we find evidence of a significant sex bias in admixture proportions consistent with disproportionate contribution of European male and Native American female ancestry to present-day populations. We also find that patterns of linkage-disequilibria in admixed Hispanic/Latino populations are largely affected by the admixture dynamics of the populations, with faster decay of LD in populations of higher African ancestry. Finally, using the locus-specific ancestry inference method LAMP, we reconstruct fine-scale chromosomal patterns of admixture. We document moderate power to differentiate among potential subcontinental source populations within the Native American, European, and African segments of the admixed Hispanic/Latino genomes. Our results suggest future genome-wide association scans in Hispanic/Latino populations may require correction for local genomic ancestry at a subcontinental scale when associating differences in the genome with disease risk, progression, and drug efficacy, as well as for admixture mapping.