Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

Home | About RECERCAT | Contact

Català | Castellano

All of RECERCAT

By Communities &
Collections By Defense Date By Authors By Titles By Subject

This Collection

By Defense Date By Authors By Titles By Subject

Statistics

View Statistics All RECERCAT

My RECERCAT

Other repositories directory

RECERCAT Home > Universitat Pompeu Fabra > Articles, congressos, llibres > View document

To access the full text documents, please follow this link: http://hdl.handle.net/10230/23019

dc.contributor.author	Ballana Guix, Ester
dc.contributor.author	González Ruiz, Juan Ramón
dc.contributor.author	Bosch Pagès, Nina
dc.contributor.author	Estivill, Xavier, 1955-
dc.date	2007
dc.identifier.citation	Ballana E, González J, Bosch N, Estivill X. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. BMC Genomics. 2007 January; 8:14.
dc.identifier.citation	1471-2164
dc.identifier.citation	http://dx.doi.org/10.1186/1471-2164-8-14
dc.identifier.uri	http://hdl.handle.net/10230/23019
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	BioMed Central
dc.relation	BMC Genomics. 2007 January; 8:14.
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	© 2007 Ballana et al; licensee BioMed Central Ltd. /nThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.rights	http://creativecommons.org/licenses/by/2.0
dc.subject	Genomes
dc.subject	Immunitat
dc.title	Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
dc.description.abstract	Background: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The α-defensin cluster on human chromosome 8p23.1 is one of the better-characterized CNVs, in which high copy number variability affecting the DEFA1 and DEFA3 genes has been reported. Moreover, the DEFA3 gene has been found to be absent in a significant proportion of control population subjects. CNVs involving immune genes, such as α-defensins, are possibly contributing to innate immunity differences observed between individuals and influence predisposition and susceptibility to disease. Results: We have tested the DEFA3 absence in 697 samples from different human populations. The proportion of subjects lacking DEFA3 has been found to vary from 10% to 37%, depending on the population tested, suggesting differences in innate immune function between populations. Absence of DEFA3 was correlated with the region's haplotype block structure. African samples showed a higher intra-populational variability together with the highest proportion of subjects without DEFA3 (37%). Association analysis of DEFA3 absence with 136 SNPs from a 100-kb region identified a conserved haplotype in the Caucasian population, extending for the whole region. Conclusion: Complexity and variability are essential genomic features of the α-defensin cluster at the 8p23.1 region. The identification of population differences in subjects lacking the DEFA3 gene may be suggestive of population-specific selective pressures with potential impact on human health.
dc.description.abstract	This work was financially supported by Fundació La Marató de TV3 (993610), Instituto de Salud Carlos III, FIS-ISCIII (G03/203, PI052347 and CIBER-CB06/02/0058) and Departament d'Universitats i Societat de la Informació, Generalitat de Catalunya (2005SGR00008). The Spanish National Genotyping Center (CeGen) is founded by Genoma España. EB is recipient of a FI fellowship from Departament d'Universitats i Societat de la Informació, Generalitat de Catalunya (2003FI00066). NB is a recipient of a BEFI fellowship from Instituto de Salud Carlos III FIS-ISCIII.
dc.description.abstract	http://dx.doi.org/10.1186/1471-2164-8-14

Show simple item record

All of RECERCAT

This Collection

Statistics

My RECERCAT

Related documents

Other documents of the same author