Geographical affinities of the HapMap samples.

The HapMap samples were collected for medical-genetic studies, but are also widely used in population-genetic and evolutionary investigations. Yet the ascertainment of the samples differs from most population-genetic studies which collect individuals who live in the same local region as their ancest...

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Main Authors: Miao He, Jane Gitschier, Tatiana Zerjal, Peter de Knijff, Chris Tyler-Smith, Yali Xue
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2649532?pdf=render
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author Miao He
Jane Gitschier
Tatiana Zerjal
Peter de Knijff
Chris Tyler-Smith
Yali Xue
author_facet Miao He
Jane Gitschier
Tatiana Zerjal
Peter de Knijff
Chris Tyler-Smith
Yali Xue
author_sort Miao He
collection DOAJ
description The HapMap samples were collected for medical-genetic studies, but are also widely used in population-genetic and evolutionary investigations. Yet the ascertainment of the samples differs from most population-genetic studies which collect individuals who live in the same local region as their ancestors. What effects could this non-standard ascertainment have on the interpretation of HapMap results?We compared the HapMap samples with more conventionally-ascertained samples used in population- and forensic-genetic studies, including the HGDP-CEPH panel, making use of published genome-wide autosomal SNP data and Y-STR haplotypes, as well as producing new Y-STR data. We found that the HapMap samples were representative of their broad geographical regions of ancestry according to all tests applied. The YRI and JPT were indistinguishable from independent samples of Yoruba and Japanese in all ways investigated. However, both the CHB and the CEU were distinguishable from all other HGDP-CEPH populations with autosomal markers, and both showed Y-STR similarities to unusually large numbers of populations, perhaps reflecting their admixed origins.The CHB and JPT are readily distinguished from one another with both autosomal and Y-chromosomal markers, and results obtained after combining them into a single sample should be interpreted with caution. The CEU are better described as being of Western European ancestry than of Northern European ancestry as often reported. Both the CHB and CEU show subtle but detectable signs of admixture. Thus the YRI and JPT samples are well-suited to standard population-genetic studies, but the CHB and CEU less so.
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spelling doaj.art-dd240151229447e1a12fb211c837b1dc2022-12-21T19:06:04ZengPublic Library of Science (PLoS)PLoS ONE1932-62032009-01-0143e468410.1371/journal.pone.0004684Geographical affinities of the HapMap samples.Miao HeJane GitschierTatiana ZerjalPeter de KnijffChris Tyler-SmithYali XueThe HapMap samples were collected for medical-genetic studies, but are also widely used in population-genetic and evolutionary investigations. Yet the ascertainment of the samples differs from most population-genetic studies which collect individuals who live in the same local region as their ancestors. What effects could this non-standard ascertainment have on the interpretation of HapMap results?We compared the HapMap samples with more conventionally-ascertained samples used in population- and forensic-genetic studies, including the HGDP-CEPH panel, making use of published genome-wide autosomal SNP data and Y-STR haplotypes, as well as producing new Y-STR data. We found that the HapMap samples were representative of their broad geographical regions of ancestry according to all tests applied. The YRI and JPT were indistinguishable from independent samples of Yoruba and Japanese in all ways investigated. However, both the CHB and the CEU were distinguishable from all other HGDP-CEPH populations with autosomal markers, and both showed Y-STR similarities to unusually large numbers of populations, perhaps reflecting their admixed origins.The CHB and JPT are readily distinguished from one another with both autosomal and Y-chromosomal markers, and results obtained after combining them into a single sample should be interpreted with caution. The CEU are better described as being of Western European ancestry than of Northern European ancestry as often reported. Both the CHB and CEU show subtle but detectable signs of admixture. Thus the YRI and JPT samples are well-suited to standard population-genetic studies, but the CHB and CEU less so.http://europepmc.org/articles/PMC2649532?pdf=render
spellingShingle Miao He
Jane Gitschier
Tatiana Zerjal
Peter de Knijff
Chris Tyler-Smith
Yali Xue
Geographical affinities of the HapMap samples.
PLoS ONE
title Geographical affinities of the HapMap samples.
title_full Geographical affinities of the HapMap samples.
title_fullStr Geographical affinities of the HapMap samples.
title_full_unstemmed Geographical affinities of the HapMap samples.
title_short Geographical affinities of the HapMap samples.
title_sort geographical affinities of the hapmap samples
url http://europepmc.org/articles/PMC2649532?pdf=render
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AT janegitschier geographicalaffinitiesofthehapmapsamples
AT tatianazerjal geographicalaffinitiesofthehapmapsamples
AT peterdeknijff geographicalaffinitiesofthehapmapsamples
AT christylersmith geographicalaffinitiesofthehapmapsamples
AT yalixue geographicalaffinitiesofthehapmapsamples