Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape. de Wit, E., Delport, W., Rugamika, C. E., Meintjes, A., Möller, M., van Helden, P. D., Seoighe, C., & Hoal, E. G. Human Genetics, 128(2):145–153, August, 2010. 00061 doi abstract bibtex Admixed populations present unique opportunities to discover the genetic factors underlying many multifactorial diseases. The geographical position and complex history of South Africa has led to the establishment of the unique admixed population known as the South African Coloured. Not much is known about the genetic make-up of this population, and the historical record is patchy. We genotyped 959 individuals from the Western Cape area, self-identified as belonging to this population, using the Affymetrix 500k genotyping platform. This resulted in nearly 75,000 autosomal SNPs that could be compared with populations represented in the International HapMap Project and the Human Genome Diversity Project. Analysis by means of both the admixture and linkage models in STRUCTURE revealed that the major ancestral components of this population are predominantly Khoesan (32-43%), Bantu-speaking Africans (20-36%), European (21-28%) and a smaller Asian contribution (9-11%), depending on the model used. This is consistent with historical data. While of great historical and genealogical interest, this information is also essential for future admixture mapping of disease genes in this population.
@article{de_wit_genome-wide_2010,
title = {Genome-wide analysis of the structure of the {South} {African} {Coloured} {Population} in the {Western} {Cape}},
volume = {128},
issn = {1432-1203},
doi = {10.1007/s00439-010-0836-1},
abstract = {Admixed populations present unique opportunities to discover the genetic factors underlying many multifactorial diseases. The geographical position and complex history of South Africa has led to the establishment of the unique admixed population known as the South African Coloured. Not much is known about the genetic make-up of this population, and the historical record is patchy. We genotyped 959 individuals from the Western Cape area, self-identified as belonging to this population, using the Affymetrix 500k genotyping platform. This resulted in nearly 75,000 autosomal SNPs that could be compared with populations represented in the International HapMap Project and the Human Genome Diversity Project. Analysis by means of both the admixture and linkage models in STRUCTURE revealed that the major ancestral components of this population are predominantly Khoesan (32-43\%), Bantu-speaking Africans (20-36\%), European (21-28\%) and a smaller Asian contribution (9-11\%), depending on the model used. This is consistent with historical data. While of great historical and genealogical interest, this information is also essential for future admixture mapping of disease genes in this population.},
language = {eng},
number = {2},
journal = {Human Genetics},
author = {de Wit, Erika and Delport, Wayne and Rugamika, Chimusa E. and Meintjes, Ayton and Möller, Marlo and van Helden, Paul D. and Seoighe, Cathal and Hoal, Eileen G.},
month = aug,
year = {2010},
pmid = {20490549},
note = {00061 },
keywords = {African Continental Ancestry Group, Asian Continental Ancestry Group, Ethnic Groups, European Continental Ancestry Group, Genome, Genotype, Geography, Humans, Male, Polymorphism, Single Nucleotide, Population Groups, Research, South Africa},
pages = {145--153},
}
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