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Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22

Recent studies of haplotype diversity in a number of genomic regions have suggested that long stretches of DNA are preserved in the same chromosome, with little evidence of recombination events. The knowledge of the extent and strength of these haplotypes could become a powerful tool for future gene...

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Autores principales: González-Neira, Anna, Calafell, Francesc, Navarro, Arcadi, Lao, Oscar, Cann, Howard, Comas, David, Bertranpetit, Jaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500194/
https://www.ncbi.nlm.nih.gov/pubmed/15606995
http://dx.doi.org/10.1186/1479-7364-1-6-399
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author González-Neira, Anna
Calafell, Francesc
Navarro, Arcadi
Lao, Oscar
Cann, Howard
Comas, David
Bertranpetit, Jaume
author_facet González-Neira, Anna
Calafell, Francesc
Navarro, Arcadi
Lao, Oscar
Cann, Howard
Comas, David
Bertranpetit, Jaume
author_sort González-Neira, Anna
collection PubMed
description Recent studies of haplotype diversity in a number of genomic regions have suggested that long stretches of DNA are preserved in the same chromosome, with little evidence of recombination events. The knowledge of the extent and strength of these haplotypes could become a powerful tool for future genetic analysis of complex traits. Different patterns of linkage disequilibrium (LD) have been found when comparing individuals of African and European descent, but there is scarce knowledge about the worldwide population stratification. Thus, the study of haplotype composition and the pattern of LD from a global perspective are relevant for elucidating their geographical stratification, as it may have implications in the future analysis of complex traits. We have typed 12 single nucleotide polymorphisms in a chromosome 22 region--previously described as having high LD levels in European populations -- in 39 different world populations. Haplotype structure has a clear continental structure with marked heterogeneity within some continents (Africa, America). The pattern of LD among neighbouring markers exhibits a strong clustering of all East Asian populations on the one hand and of Western Eurasian populations (including Europe) on the other, revealing only two major LD patterns, but with some very specific outliers due to specific demographic histories. Moreover, it should be taken into account that African populations are highly heterogeneous. The present results support the existence of a wide (but not total) communality in LD patterns in human populations from different continental regions, despite differences in their demographic histories, as population factors seem to be less relevant compared with genomic forces in shaping the patterns of LD.
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spelling pubmed-35001942012-11-20 Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22 González-Neira, Anna Calafell, Francesc Navarro, Arcadi Lao, Oscar Cann, Howard Comas, David Bertranpetit, Jaume Hum Genomics Primary Research Recent studies of haplotype diversity in a number of genomic regions have suggested that long stretches of DNA are preserved in the same chromosome, with little evidence of recombination events. The knowledge of the extent and strength of these haplotypes could become a powerful tool for future genetic analysis of complex traits. Different patterns of linkage disequilibrium (LD) have been found when comparing individuals of African and European descent, but there is scarce knowledge about the worldwide population stratification. Thus, the study of haplotype composition and the pattern of LD from a global perspective are relevant for elucidating their geographical stratification, as it may have implications in the future analysis of complex traits. We have typed 12 single nucleotide polymorphisms in a chromosome 22 region--previously described as having high LD levels in European populations -- in 39 different world populations. Haplotype structure has a clear continental structure with marked heterogeneity within some continents (Africa, America). The pattern of LD among neighbouring markers exhibits a strong clustering of all East Asian populations on the one hand and of Western Eurasian populations (including Europe) on the other, revealing only two major LD patterns, but with some very specific outliers due to specific demographic histories. Moreover, it should be taken into account that African populations are highly heterogeneous. The present results support the existence of a wide (but not total) communality in LD patterns in human populations from different continental regions, despite differences in their demographic histories, as population factors seem to be less relevant compared with genomic forces in shaping the patterns of LD. BioMed Central 2004-11-01 /pmc/articles/PMC3500194/ /pubmed/15606995 http://dx.doi.org/10.1186/1479-7364-1-6-399 Text en Copyright ©2004 Henry Stewart Publications
spellingShingle Primary Research
González-Neira, Anna
Calafell, Francesc
Navarro, Arcadi
Lao, Oscar
Cann, Howard
Comas, David
Bertranpetit, Jaume
Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
title Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
title_full Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
title_fullStr Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
title_full_unstemmed Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
title_short Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
title_sort geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
topic Primary Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500194/
https://www.ncbi.nlm.nih.gov/pubmed/15606995
http://dx.doi.org/10.1186/1479-7364-1-6-399
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