Abstract
Inferring the ancestral origin of DNA samples can be helpful in correcting population
stratification in disease association studies or guiding crime investigations. Populations
throughout the world vary in appearance features and biological characteristics. Based
on this idea, we performed a genome-wide scan for SNPs within genes that are related
to physical and biological traits. Using the HapMap database, we screened 52 genes
and their flanking regions. Thirty-five SNPs that displayed highly contrasting allele
frequencies (Fst > 0.3, linkage disequilibrium r2 < 0.2, and Hardy–Weinberg equilibrium P > 0.001) among Africans, Europeans, and East Asians were selected and validated. A multiplexed
assay was developed to genotype these 35 SNPs in 357 individuals from 10 populations
worldwide. This panel provided accurate estimates of individual ancestry proportions
with balanced discriminatory power among the three continental ancestries: Africans,
Europeans, and East Asians. It also proved very effective in evaluating admixed populations
living in joint regions of continents (e.g., Uyghurs and Indians) and discriminating
some subpopulations within each of the three continents. Structure analysis was performed
to establish and evaluate the panel of ancestry-informative markers, and the components
of each population were also described to indicate the structural composition. The
21 population structures in our study are consistent with geographic patterns, and
individuals were properly assigned to their original ancestral populations with proportion
analyses and random match probability calculations. Thus, the panel and its population
information will be useful resources to minimize the effects of population stratification
in association analyses and to assign the most likely origin of an unknown DNA contributor
in forensic investigations.
Keywords
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Article info
Publication history
Accepted:
September 9,
2013
Received in revised form:
September 6,
2013
Received:
April 22,
2013
Identification
Copyright
© 2013 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
