Characterizing the admixed African ancestry of African Americans.
Characterizing the admixed African ancestry of African Americans.
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DOI：
10.1186/gb-2009-10-12-r141
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发表时间：
2009
期刊：
影响因子：
12.3
通讯作者：
Tang H
中科院分区：
文献类型：
--
作者：
Zakharia F;Basu A;Absher D;Assimes TL;Go AS;Hlatky MA;Iribarren C;Knowles JW;Li J;Narasimhan B;Sidney S;Southwick A;Myers RM;Quertermous T;Risch N;Tang H
全基因组SNP分析揭示了非洲裔美国人的混合非洲遗传祖先。准确、高通量的基因分型允许对遗传祖先进行精细表征。在这里，我们将最近开发的统计和计算技术应用于非裔美国人的非洲血统问题，使用HGDP中包含的94个不同地理来源的非洲人中超过450，000个单核苷酸多态性（SNP）基因分型的数据，以及136名非洲裔美国人和38名欧洲裔美国人参加了动脉粥样硬化疾病血管功能和遗传流行病学（ADVANCE）研究。为了关注非洲血统，我们减少了数据，只包括那些基因型在每个非洲裔美国人确定统计上是非洲的起源。从聚类分析中，我们发现，所有的非洲裔美国人都混合了他们的非洲血统成分，其中大部分贡献来自西非和中西部非洲，这些非洲血统比例在个体之间只有适度的变化。此外，通过主成分分析，我们发现很少有证据表明非洲裔美国人祖先的非洲成分内的遗传结构。这些结果与非洲裔美国人的历史交配模式是一致的，这些模式与非洲祖先的起源在很大程度上不相关，并且他们对mtDNA或Y染色体标记单独描绘非洲裔美国人的完整非洲血统的一般效用提出了质疑。我们的研究结果还表明，非洲裔美国人的遗传结构是不同于非洲人，并在非裔美国人的病例对照研究中，潜在的遗传分层偏见的最大来源来自欧洲血统的比例。
Genome-wide SNP analyses reveal the admixed African genetic ancestry of African Americans. Accurate, high-throughput genotyping allows the fine characterization of genetic ancestry. Here we applied recently developed statistical and computational techniques to the question of African ancestry in African Americans by using data on more than 450,000 single-nucleotide polymorphisms (SNPs) genotyped in 94 Africans of diverse geographic origins included in the HGDP, as well as 136 African Americans and 38 European Americans participating in the Atherosclerotic Disease Vascular Function and Genetic Epidemiology (ADVANCE) study. To focus on African ancestry, we reduced the data to include only those genotypes in each African American determined statistically to be African in origin. From cluster analysis, we found that all the African Americans are admixed in their African components of ancestry, with the majority contributions being from West and West-Central Africa, and only modest variation in these African-ancestry proportions among individuals. Furthermore, by principal components analysis, we found little evidence of genetic structure within the African component of ancestry in African Americans. These results are consistent with historic mating patterns among African Americans that are largely uncorrelated to African ancestral origins, and they cast doubt on the general utility of mtDNA or Y-chromosome markers alone to delineate the full African ancestry of African Americans. Our results also indicate that the genetic architecture of African Americans is distinct from that of Africans, and that the greatest source of potential genetic stratification bias in case-control studies of African Americans derives from the proportion of European ancestry.
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