Please use this identifier to cite or link to this item:
Title: Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD
Author: Bosch, E.
Laayouni, Hafid
Morcillo-Suarez, C.
Casals, Ferran
Moreno Estrada, A.
Ferrer-Admetlla, A.
Gardner, M.
Rosa i de la Cruz, Araceli
Navarro i Cuartiellas, Arcadi, 1969-
Comas, David
Graffelman, J.
Calafell, Francesc
Bertranpetit, Jaume, 1952-
Keywords: Genètica humana
Genètica de poblacions humanes
Genoma humà
Human genetics
Human population genetics
Human genome
Issue Date: 28-Jul-2009
Publisher: BioMed Central
Abstract: Background It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium around genes, particularly in isolated populations where it is assumed to be higher. Here, we explore both the amount and the decay of linkage disequilibrium with physical distance along 211 gene regions, most of them related to complex diseases, across 39 HGDP-CEPH population samples, focusing particularly on the populations defined as isolates. Within each gene region and population we use r2 between all possible single nucleotide polymorphism (SNP) pairs as a measure of linkage disequilibrium and focus on the proportion of SNP pairs with r2 greater than 0.8. Results Although the average r2 was found to be significantly different both between and within continental regions, a much higher proportion of r2 variance could be attributed to differences between continental regions (2.8% vs. 0.5%, respectively). Similarly, while the proportion of SNP pairs with r2 > 0.8 was significantly different across continents for all distance classes, it was generally much more homogenous within continents, except in the case of Africa and the Americas. The only isolated populations with consistently higher LD in all distance classes with respect to their continent are the Kalash (Central South Asia) and the Surui (America). Moreover, isolated populations showed only slightly higher proportions of SNP pairs with r2 > 0.8 per gene region than non-isolated populations in the same continent. Thus, the number of SNPs in isolated populations that need to be genotyped may be only slightly less than in non-isolates. Conclusion The 'isolated population' label by itself does not guarantee a greater genotyping efficiency in association studies, and properties other than increased linkage disequilibrium may make these populations interesting in genetic epidemiology.
Note: Reproducció del document publicat a:
It is part of: Bmc Genomics, 2009, vol. 10, num. 338, p. 1-9
Related resource:
ISSN: 1471-2164
Appears in Collections:Articles publicats en revistes (Biologia Evolutiva, Ecologia i Ciències Ambientals)

Files in This Item:
File Description SizeFormat 
578466.pdf353.98 kBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons