Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
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- dc.contributor.author González Neira, Annaca
- dc.contributor.author Calafell i Majó, Francescca
- dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-ca
- dc.contributor.author Lao Grueso, Oscar, 1976-ca
- dc.contributor.author Cann, Howard M.ca
- dc.contributor.author Comas, David, 1969-ca
- dc.contributor.author Bertranpetit, Jaume, 1952-ca
- dc.date.accessioned 2014-12-18T10:46:10Z
- dc.date.available 2014-12-18T10:46:10Z
- dc.date.issued 2004ca
- dc.description.abstract 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.
- dc.description.sponsorship This study was supported by the European Project QLG2-CT-2001-00916 and by the Ministerio de Ciencia y Tecnologia of the Spanish Government (BNC2001-0772).
- dc.format.mimetype application/pdfca
- dc.identifier.citation González-Neira A, Calafell F, Navarro A, Lao O, Cann H, Comas D et al. Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22. Human Genomics. 2004 Nov;1(6):399-409. DOI: 10.1186/1479-7364-1-6-399ca
- dc.identifier.doi http://dx.doi.org/10.1186/1479-7364-1-6-399
- dc.identifier.issn 1432-1203ca
- dc.identifier.uri http://hdl.handle.net/10230/23000
- dc.language.iso engca
- dc.publisher BioMed Centralca
- dc.relation.ispartof Human Genomics. 2004;1(6):399-409
- dc.rights © 2004 Henry Stewart Publicationsca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.subject.keyword Linkage disequilibrium
- dc.subject.keyword Single Nucleotide Polymorphism (SNP)
- dc.subject.keyword Haplotype
- dc.subject.keyword Chromosome 22
- dc.subject.keyword Population diversity
- dc.subject.other Haploïdia
- dc.subject.other ADN
- dc.subject.other Genomes
- dc.subject.other Genètica
- dc.title Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22ca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca