English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/149607
Compartir / Impacto:
Estadísticas
Add this article to your Mendeley library MendeleyBASE
Citado 10 veces en Web of Knowledge®  |  Pub MebCentral Ver citas en PubMed Central  |  Ver citas en Google académico
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Título

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

AutorDopazo, Joaquín; Rodríguez-Pérez, Juan Antonio ; Daub, Josephine T.; Muntané, Gerard; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo
Palabras clavePharmacogenomic variants
Exome sequencing
Population variability
Disease variants
Fecha de publicación13-ene-2016
EditorOxford University Press
CitaciónMolecular Biology and Evolution 33(5): 1205-1218 (2016)
ResumenRecent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local variability motivated the whole-exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. Like in other studies, a considerable number of rare variants were found (almost one-third of the described variants). There were also relevant differences in allelic frequencies in polymorphic variants, including ~10,000 polymorphisms private to the Spanish population. The allelic frequencies of variants conferring susceptibility to complex diseases (including cancer, schizophrenia, Alzheimer disease, type 2 diabetes, and other pathologies) were overall similar to those of other populations. However, the trend is the opposite for variants linked to Mendelian and rare diseases (including several retinal degenerative dystrophies and cardiomyopathies) that show marked frequency differences between populations. Interestingly, a correspondence between differences in allelic frequencies and disease prevalence was found, highlighting the relevance of frequency differences in disease risk. These differences are also observed in variants that disrupt known drug binding sites, suggesting an important role for local variability in population-specific drug resistances or adverse effects. We have made the Spanish population variant server web page that contains population frequency information for the complete list of 170,888 variant positions we found publicly available (http://spv.babelomics.org/), We show that it if fundamental to determine population-specific variant frequencies to distinguish real disease associations from population-specific polymorphisms. © 2016 The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.
DescripciónDopazo, Joaquín et al.
Versión del editorhttps://doi.org/10.1093/molbev/msw005
URIhttp://hdl.handle.net/10261/149607
DOI10.1093/molbev/msw005
Identificadoresissn: 0737-4038
e-issn: 1537-1719
Aparece en las colecciones: (CABIMER) Artículos
(IBE) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
accesoRestringido.pdf15,38 kBAdobe PDFVista previa
Visualizar/Abrir
Mostrar el registro completo
 



NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.