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

Roman Kosoy, Rami Nassir, Chao Tian, Phoebe A. White, Lesley M. Butler, Gabriel Silva, Rick Kittles, Marta E. Alarcon-Riquelme, Peter K. Gregersen, John W. Belmont, Francisco M. De La Vega, Michael F Seldin

Research output: Contribution to journalArticle

332 Citations (Scopus)

Abstract

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 (Taq-Man® 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.

Original languageEnglish (US)
Pages (from-to)69-78
Number of pages10
JournalHuman Mutation
Volume30
Issue number1
DOIs
StatePublished - Jan 2009

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Keywords

  • Ancestry informative markers
  • Continental ancestry
  • Population stratification
  • Population structure

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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

In: Human Mutation, Vol. 30, No. 1, 01.2009, p. 69-78.

Research output: Contribution to journalArticle

Kosoy, R, Nassir, R, Tian, C, White, PA, Butler, LM, Silva, G, Kittles, R, Alarcon-Riquelme, ME, Gregersen, PK, Belmont, JW, De La Vega, FM & Seldin, MF 2009, 'Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America', Human Mutation, vol. 30, no. 1, pp. 69-78. https://doi.org/10.1002/humu.20822
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. / Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. In: Human Mutation. 2009 ; Vol. 30, No. 1. pp. 69-78.
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