Ancestry Informative Marker Sets for Determining Continental Origin and Admixture Proportions in Common Populations in America

被引：416

作者：

Kosoy, Roman ^{[1
,2
]}

Nassir, Rami ^{[1
,2
]}

Tian, Chao ^{[1
,2
]}

White, Phoebe A. ^{[3
]}

Butler, Lesley M. ^{[4
]}

Silva, Gabriel ^{[5
]}

Kittles, Rick ^{[6
]}

Alarcon-Riquelme, Marta E. ^{[7
]}

Gregersen, Peter K. ^{[8
]}

Belmont, John W. ^{[9
]}

De La Vega, Francisco M. ^{[3
]}

Seldin, Michael F. ^{[1
,2
]}

机构：

[1] Univ Calif Davis, Rowe Program Genet, Dept Biochem, Davis, CA 95616 USA

[2] Univ Calif Davis, Dept Med, Davis, CA 95616 USA

[3] Appl Biosyst Inc, Foster City, CA USA

[4] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA

[5] Obras Sociales Hermano Pedro, Antigua, Guatemala

[6] Univ Chicago, Dept Med, Med Genet Sect, Chicago, IL 60637 USA

[7] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, Uppsala, Sweden

[8] N Shore LIJ Hlth Syst, Feinberg Inst Med Res, Robert S Boas Ctr Genom & Human Genet, Manhasset, NY USA

[9] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

HUMAN MUTATION | 2009年 / 30卷 / 01期

基金：

美国国家卫生研究院; 瑞典研究理事会;

关键词：

population structure; continental ancestry; population stratification; ancestry informative markers; NUCLEOTIDE-POLYMORPHISM PANEL; MULTILOCUS GENOTYPE DATA; GENETIC ASSOCIATION; POSITIVE SELECTION; MEXICAN-AMERICAN; GENOMIC CONTROL; STRATIFICATION; MAP; SUBSTRUCTURE; INFERENCE;

D O I：

10.1002/humu.20822

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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(R) 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, anti 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.

引用

页码：69 / 78

页数：10

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