Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders
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- dc.contributor.author Bassaganyas Bars, Laia, 1985-ca
- dc.contributor.author Riveira Muñoz, Evaca
- dc.contributor.author García Aragonés, Manelca
- dc.contributor.author González Ruiz, Juan Ramónca
- dc.contributor.author Cáceres Aguilar, Marioca
- dc.contributor.author Armengol i Dulcet, Lluísca
- dc.contributor.author Estivill, Xavier, 1955-ca
- dc.date.accessioned 2015-03-17T08:17:58Z
- dc.date.available 2015-03-17T08:17:58Z
- dc.date.issued 2013ca
- dc.description.abstract Background: There is increasing evidence of the importance of copy number variants (CNV) in genetic diversity among individuals and populations, as well as in some common genetic diseases. We previously characterized a common 32-kb insertion/deletion variant of the PSORS4 locus at chromosome 1q21 that harbours the LCE3C and LCE3B genes. This variant allele (LCE3C_LCE3B-del) is common in patients with psoriasis and other autoimmune disorders from certain ethnic groups./nResults: Using array-CGH (Agilent 244 K) in samples from the HapMap and Human Genome Diversity Panel (HGDP) collections, we identified 54 regions showing population differences in comparison to Africans. We provided here a comprehensive population-genetic analysis of one of these regions, which involves the 32-kb deletion of the PSORS4 locus. By a PCR-based genotyping assay we characterised the profiles of the LCE3C_LCE3B-del and the linkage disequilibrium (LD) pattern between the variant allele and the tag SNP rs4112788. Our results show that most populations tend to have a higher frequency of the deleted allele than Sub-Saharan Africans. Furthermore, we found strong LD between rs4112788G and LCE3C_LCE3B-del in most non-African populations (r2 >0.8), in contrast to the low concordance between loci (r2 <0.3) in the African populations. Conclusions: These results are another example of population variability in terms of biomedical interesting CNV. The frequency distribution of the LCE3C_LCE3B-del allele and the LD pattern across populations suggest that the differences between ethnic groups might not be due to natural selection, but the consequence of genetic drift caused by the strong bottleneck that occurred during “out of Africa” expansion.en
- dc.description.sponsorship The study was supported by grants from European Commission (AnEuploidy -LSHG-CT-2006-037627- and ENGAGE -ENGAGE_201413-), the “Plan Nacional” Programme of the Spanish Ministry of Economy and Competivity (NOVADIS SAF2008-00357), and the Generalitat de Catalunya (2009 SGR 0008). Mario Cáceres was supported by the Ramón y Cajal Program (Spanish Ministry of Science and Education)en
- dc.format.mimetype application/pdfca
- dc.identifier.citation Bassaganyas L, Riveira-Muñoz E, García-Aragonés M, González JR, Cáceres M, Armengol L et al. Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. BMC Genomics. 2013; 14: 261. DOI 10.1186/1471-2164-14-261ca
- dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-14-261
- dc.identifier.issn 1471-2164ca
- dc.identifier.uri http://hdl.handle.net/10230/23195
- dc.language.iso engca
- dc.publisher BioMed Centralca
- dc.relation.ispartof BMC Genomics. 2013; 14: 261
- dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/201413ca
- dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/037627
- dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/SAF2008-00357
- dc.rights © 2013 Bassaganyas et al.; licensee BioMed Central Ltd. This 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.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.rights.uri http://creativecommons.org/licenses/by/2.0
- dc.subject.keyword Copy number variantsen
- dc.subject.keyword Psoriasisen
- dc.subject.keyword Autoimmune disordersen
- dc.subject.keyword LCE3C_LCE3B-delen
- dc.subject.keyword Genetic variationen
- dc.subject.keyword Genetic driften
- dc.subject.keyword Human populationsen
- dc.subject.other Malalties autoimmunitàriesca
- dc.subject.other Cromosomes humansca
- dc.subject.other Genoma humàca
- dc.title Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disordersca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca