Communicated by Pui-Yan Kwok
A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications†
Article first published online: 19 FEB 2008
© 2008 Wiley-Liss, Inc.
Volume 29, Issue 5, pages 648–658, May 2008
How to Cite
Halder, I., Shriver, M., Thomas, M., Fernandez, J. R. and Frudakis, T. (2008), A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications. Hum. Mutat., 29: 648–658. doi: 10.1002/humu.20695
- Issue published online: 11 APR 2008
- Article first published online: 19 FEB 2008
- Manuscript Accepted: 7 NOV 2007
- Manuscript Received: 9 FEB 2007
- National Institute of Health (NIH). Grant Number: P30AG015294
- biogeographical ancestry;
- ancestry informative markers;
Autosomal ancestry informative markers (AIMs) are useful for inferring individual biogeographical ancestry (I-BGA) and admixture. Ancestry estimates obtained from Y and mtDNA are useful for reconstructing population expansions and migrations in our recent past but individual genomic admixture estimates are useful to test for association of admixture with phenotypes, as covariate in association studies to control for stratification and, in forensics, to estimate certain overt phenotypes from ancestry. We have developed a panel of 176 autosomal AIMs that can effectively distinguish I-BGA and admixture proportions from four continental ancestral populations: Europeans, West Africans, Indigenous Americans, and East Asians. We present allele frequencies for these AIMs in all four ancestral populations and use them to assess the global apportionment of I-BGA and admixture diversity among some extant populations. We observed patterns of apportionment similar to those described previously using sex and autosomal markers, such as European admixture for African Americans (14.3%) and Mexicans (43.2%), European (65.5%) and East Asian affiliation (27%) for South Asians, and low levels of African admixture (2.8–10.8%) mirroring the distribution of Y E3b haplogroups among various Eurasian populations. Using simulation studies and pedigree analysis we show that I-BGA estimates obtained using this panel and a four-population model has a high degree of precision (average root mean square error [RMSE]=0.026). Using ancestry–phenotype associations we demonstrate that a large and informative AIM panel such as this can help reduce false-positive and false-negative associations between phenotypes and admixture proportions, which may result when using a smaller panel of less informative AIMs. Hum Mutat 29(5), 648–658, 2008. © 2008 Wiley-Liss, Inc.