Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.

Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.
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DOI:
10.1002/humu.20822
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发表时间:
2009-01
期刊:
影响因子:
3.9
通讯作者:
Seldin, Michael F.
Seldin, Michael F.
中科院分区:
医学2区
文献类型:
--
作者:
Kosoy, Roman;Nassir, Rami;Tian, Chao;White, Phoebe A.;Butler, Lesley M.;Silva, Gabriel;Kittles, Rick;Alarcon-Riquelme, Marta E.;Gregersen, Peter K.;Belmont, John W.;De La Vega, Francisco M.;Seldin, Michael F.

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为了在各种各样的遗传研究中提供用于评估大陆血统的资源,我们鉴定、验证和表征了一组128个血统信息标记(AIM)。在两个平台(TaqMan®测定和Illumina阵列)上选择标记物的信息性、全基因组分布和基因型再现性。我们分析了来自825名具有不同血统的受试者的基因分型数据,包括欧洲人、东亚人、美洲印第安人、非洲人、南亚人、墨西哥人和波多黎各人。一个全面的128 AIM和子集小到24 AIM被证明是有用的工具,用于确定来自特定大陆的受试者的起源,并纠正混合人口样本集的人口分层。我们的研究结果提供了一般的指导方针,应用特定的AIM子集作为资源,广泛应用。我们的结论是,研究人员可以使用TaqMan检测选定的AIM作为一个简单的和具有成本效益的工具,以控制在不同种族的人群进行关联研究时,在大陆血统的差异。
To provide a resource for assessing continental ancestry in a wide variety of genetic studies we identified, validated and characterized a set of 128 ancestry informative markers (AIMs). The markers were chosen for informativeness, genome-wide distribution, and genotype reproducibility on two platforms (TaqMan® assays and Illumina arrays). We analyzed genotyping data from 825 subjects with diverse ancestry, including European, East Asian, Amerindian, African, South Asian, Mexican, and Puerto Rican. A comprehensive set of 128 AIMs and subsets as small as 24 AIMs are shown to be useful tools for ascertaining the origin of subjects from particular continents, and to correct for population stratification in admixed population sample sets. Our findings provide general guidelines for the application of specific AIM subsets as a resource for wide application. We conclude that investigators can use TaqMan assays for the selected AIMs as a simple and cost efficient tool to control for differences in continental ancestry when conducting association studies in ethnically diverse populations.
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