Discerning the Ancestry of European Americans in Genetic Association Studies

Overview

Journal PLoS Genet

Specialty Genetics

Date 2008 Jan 23

PMID 18208327

Citations 211

Authors

Alkes L Price

Johannah Butler

Nick Patterson

Cristian Capelli

Vincenzo L Pascali

Francesca Scarnicci

Andres Ruiz-Linares

Leif Groop

Angelica A Saetta

Penelope Korkolopoulou

Uri Seligsohn

Alicja Waliszewska

Christine Schirmer

Kristin Ardlie

Alexis Ramos

James Nemesh

Lori Arbeitman

David B Goldstein

David Reich

Joel N Hirschhorn

Affiliations

Soon will be listed here.

Abstract

European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of European Americans genotyped in association studies is important in order to prevent false-positive or false-negative associations due to population stratification and to identify genetic variants whose contribution to disease risk differs across European ancestries. Here, we investigate empirical patterns of population structure in European Americans, analyzing 4,198 samples from four genome-wide association studies to show that components roughly corresponding to northwest European, southeast European, and Ashkenazi Jewish ancestry are the main sources of European American population structure. Building on this insight, we constructed a panel of 300 validated markers that are highly informative for distinguishing these ancestries. We demonstrate that this panel of markers can be used to correct for stratification in association studies that do not generate dense genotype data.

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