The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.

Recently admixed populations offer unique opportunities for studying human history and for elucidating the genetic basis of complex traits that differ in prevalence between human populations. Historical records, classical protein markers, and preliminary genetic data indicate that the Cape Verde isl...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Sandra Beleza, Joana Campos, Jailson Lopes, Isabel Inês Araújo, Ana Hoppfer Almada, António Correia e Silva, Esteban J Parra, Jorge Rocha
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
Materias:
R
Q
Acceso en línea:https://doaj.org/article/2d38b493f1314f9298560e91c69e3530
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:2d38b493f1314f9298560e91c69e3530
record_format dspace
spelling oai:doaj.org-article:2d38b493f1314f9298560e91c69e35302021-11-18T08:06:34ZThe admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.1932-620310.1371/journal.pone.0051103https://doaj.org/article/2d38b493f1314f9298560e91c69e35302012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23226471/?tool=EBIhttps://doaj.org/toc/1932-6203Recently admixed populations offer unique opportunities for studying human history and for elucidating the genetic basis of complex traits that differ in prevalence between human populations. Historical records, classical protein markers, and preliminary genetic data indicate that the Cape Verde islands in West Africa are highly admixed and primarily descended from European males and African females. However, little is known about the variation in admixture levels, admixture dynamics and genetic diversity across the islands, or about the potential of Cape Verde for admixture mapping studies. We have performed a detailed analysis of phenotypic and genetic variation in Cape Verde based on objective skin color measurements, socio-economic status (SES) evaluations and data for 50 autosomal, 34 X-chromosome, and 21 non-recombinant Y-chromosome (NRY) markers in 845 individuals from six islands of the archipelago. We find extensive genetic admixture between European and African ancestral populations (mean West African ancestry = 0.57, sd = 0.08), with individual African ancestry proportions varying considerably among the islands. African ancestry proportions calculated with X and Y-chromosome markers confirm that the pattern of admixture has been sex-biased. The high-resolution NRY-STRs reveal additional patterns of variation among the islands that are most consistent with differentiation after admixture. The differences in the autosomal admixture proportions are clearly evident in the skin color distribution across the islands (Pearson r = 0.54, P-value<2e-16). Despite this strong correlation, there are significant interactions between SES and skin color that are independent of the relationship between skin color and genetic ancestry. The observed distributions of admixture, genetic variation and skin color and the relationship of skin color with SES relate to historical and social events taking place during the settlement history of Cape Verde, and have implications for the design of association studies using this population.Sandra BelezaJoana CamposJailson LopesIsabel Inês AraújoAna Hoppfer AlmadaAntónio Correia e SilvaEsteban J ParraJorge RochaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 11, p e51103 (2012)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Sandra Beleza
Joana Campos
Jailson Lopes
Isabel Inês Araújo
Ana Hoppfer Almada
António Correia e Silva
Esteban J Parra
Jorge Rocha
The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
description Recently admixed populations offer unique opportunities for studying human history and for elucidating the genetic basis of complex traits that differ in prevalence between human populations. Historical records, classical protein markers, and preliminary genetic data indicate that the Cape Verde islands in West Africa are highly admixed and primarily descended from European males and African females. However, little is known about the variation in admixture levels, admixture dynamics and genetic diversity across the islands, or about the potential of Cape Verde for admixture mapping studies. We have performed a detailed analysis of phenotypic and genetic variation in Cape Verde based on objective skin color measurements, socio-economic status (SES) evaluations and data for 50 autosomal, 34 X-chromosome, and 21 non-recombinant Y-chromosome (NRY) markers in 845 individuals from six islands of the archipelago. We find extensive genetic admixture between European and African ancestral populations (mean West African ancestry = 0.57, sd = 0.08), with individual African ancestry proportions varying considerably among the islands. African ancestry proportions calculated with X and Y-chromosome markers confirm that the pattern of admixture has been sex-biased. The high-resolution NRY-STRs reveal additional patterns of variation among the islands that are most consistent with differentiation after admixture. The differences in the autosomal admixture proportions are clearly evident in the skin color distribution across the islands (Pearson r = 0.54, P-value<2e-16). Despite this strong correlation, there are significant interactions between SES and skin color that are independent of the relationship between skin color and genetic ancestry. The observed distributions of admixture, genetic variation and skin color and the relationship of skin color with SES relate to historical and social events taking place during the settlement history of Cape Verde, and have implications for the design of association studies using this population.
format article
author Sandra Beleza
Joana Campos
Jailson Lopes
Isabel Inês Araújo
Ana Hoppfer Almada
António Correia e Silva
Esteban J Parra
Jorge Rocha
author_facet Sandra Beleza
Joana Campos
Jailson Lopes
Isabel Inês Araújo
Ana Hoppfer Almada
António Correia e Silva
Esteban J Parra
Jorge Rocha
author_sort Sandra Beleza
title The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
title_short The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
title_full The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
title_fullStr The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
title_full_unstemmed The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
title_sort admixture structure and genetic variation of the archipelago of cape verde and its implications for admixture mapping studies.
publisher Public Library of Science (PLoS)
publishDate 2012
url https://doaj.org/article/2d38b493f1314f9298560e91c69e3530
work_keys_str_mv AT sandrabeleza theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT joanacampos theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT jailsonlopes theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT isabelinesaraujo theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT anahoppferalmada theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT antoniocorreiaesilva theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT estebanjparra theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT jorgerocha theadmixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT sandrabeleza admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT joanacampos admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT jailsonlopes admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT isabelinesaraujo admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT anahoppferalmada admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT antoniocorreiaesilva admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT estebanjparra admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
AT jorgerocha admixturestructureandgeneticvariationofthearchipelagoofcapeverdeanditsimplicationsforadmixturemappingstudies
_version_ 1718422218881368064