Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA

Oscar Lao,Kristiaan J Van Der Gaag,Toni M Diegoli,Mannis Van Oven,Michael D Coble,Manfred Kayser,Peter De Knijff,Peter M Vallone,Jeroen Pijpe

doi:10.1002/humu.21366

Oscar Lao, Kristiaan J Van Der Gaag + Show 7 more

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https://doi.org/10.1002/humu.21366

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Abstract

The current U.S. population represents an amalgam of individuals originating mainly from four continental regions (Africa, Europe, Asia and America). To study the genetic ancestry and compare with self-declared ancestry we have analyzed paternally, maternally and bi-parentally inherited DNA markers sensitive for indicating continental genetic ancestry in all four major U.S. American groups. We found that self-declared U.S. Hispanics and U.S. African Americans tend to show variable degrees of continental genetic admixture among the three genetic systems, with evidence for a marked sex-biased admixture history. Moreover, for these two groups we observed significant regional variation across the country in genetic admixture. In contrast, self-declared U.S. European and U.S. Asian Americans were genetically more homogeneous at the continental ancestry level. Two autosomal ancestry-sensitive markers located in skin pigmentation candidate genes showed significant differences in self-declared U.S. African Americans or U.S. European Americans, relative to their assumed parental populations from Africa or Europe. This provides genetic support for the importance of skin color in the complex process of ancestry identification. © 2010 Wiley-Liss, Inc.

Highlights

The current U.S American population is interesting for studying bio-geographic ancestry, as it represents an amalgam of individuals who originate from at least four major continental regions that started to admix at different time scales starting with the European colonization of North America
We concluded that these genetic markers are suitable for inferring bio-geographic ancestry in U.S Americans since the four geographic regions identified with the 24 ancestry-sensitive markers (ASMs) represent the putative parental populations of the four major groups of U.S Americans
We have shown in the HGPD-CEPH samples that the ascertained ASMs are informative for detecting the ancestry of them

Summary

Introduction

The current U.S American population is interesting for studying bio-geographic ancestry, as it represents an amalgam of individuals who originate from at least four major continental regions that (at least potentially) started to admix at different time scales starting with the European colonization of North America. The four most frequently self-assigned clusters by U.S Americans according to the U.S Census Bureau (2008) are white (U.S European), black (U.S African), Asian (U.S Asian) and Hispanic / Latinos (U.S Hispanic). It should be noticed, that such classification mixes bio-geographic ancestry, sociological and cultural, respectively linguistic variables. Individuals self-defined as U.S Hispanics share cultural aspects, such as the Spanish mother tongue, but can be of different bio-geographic ancestry reflecting the more than 500 years of admixture history between Native Americans, Europeans and Africans in the Americas (Salazano and Bortolini, 2002). Additional subcontinental population substructure can be detected within self-identified groups, such as within self-declared

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