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Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

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dc.contributor.author Muiños Gimeno, Margarita
dc.contributor.author Montfort, Magda
dc.contributor.author Bayés, Mònica
dc.contributor.author Estivill, Xavier, 1955-
dc.contributor.author Espinosa Parrilla, Yolanda, 1971-
dc.date.accessioned 2012-03-13T12:28:54Z
dc.date.available 2012-03-13T12:28:54Z
dc.date.issued 2010
dc.identifier.citation Muiños-Gimeno M, Montfort M, Bayés M, Estivill X, Espinosa-Parrilla Y. Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease. European Journal of Human Genetics. 2010;18(2):218-26. DOI: 10.1038/ejhg.2009.165
dc.identifier.issn 1018-4813
dc.identifier.uri http://hdl.handle.net/10230/16289
dc.description.abstract MicroRNAs (miRNA) are recognized posttranscriptional gene repressors involved in the control of almost every biological process. Allelic variants in these regions may be an important source of phenotypic diversity and contribute to disease susceptibility. We analyzed the genomic organization of 325 human miRNAs (release 7.1, miRBase) to construct a panel of 768 single-nucleotide polymorphisms (SNPs) covering approximately 1 Mb of genomic DNA, including 131 isolated miRNAs (40%) and 194 miRNAs arranged in 48 miRNA clusters, as well as their 5-kb flanking regions. Of these miRNAs, 37% were inside known protein-coding genes, which were significantly associated with biological functions regarding neurological, psychological or nutritional disorders. SNP coverage analysis revealed a lower SNP density in miRNAs compared with the average of the genome, with only 24 SNPs located in the 325 miRNAs studied. Further genotyping of 340 unrelated Spanish individuals showed that more than half of the SNPs in miRNAs were either rare or monomorphic, in agreement with the reported selective constraint on human miRNAs. A comparison of the minor allele frequencies between Spanish and HapMap population samples confirmed the applicability of this SNP panel to the study of complex disorders among the Spanish population, and revealed two miRNA regions, hsa-mir-26a-2 in the CTDSP2 gene and hsa-mir-128-1 in the R3HDM1 gene, showing geographical allelic frequency variation among the four HapMap populations, probably because of differences in natural selection. The designed miRNA SNP panel could help to identify still hidden links between miRNAs and human disease.
dc.description.sponsorship This work was supported by the 'Instituto Carlos III and Fondo de Investigaciones Sanitarias' [CIBER-CB06/02/0058, CIBER-SAM, FIS/ISCIII:P1052565, ISCIII:GO3/184], the 'Fundació la Marató-TV3' [014331], the 'Departament d’Universitats Innovació i Empresa, Generalitat de Catalunya' [2005SGR00008] and the European Union Sixth Framework Programme Integrated Project SIROCCO [Grant LSHG-CT-2006-037900]
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof European Journal of Human Genetics. 2010;18(2):218-26
dc.rights © 2010 Macmillan Publishers Limited All rights reserved
dc.subject.other Genètica humana -- Variació
dc.subject.other Interaccions ARN-proteïnes
dc.title Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/ejhg.2009.165
dc.subject.keyword miRNA
dc.subject.keyword Single nucleotide polymorphism
dc.subject.keyword HapMap
dc.subject.keyword Population genetics
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP6/037900
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/acceptedVersion


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