Genetic Structure of the Spanish Population

Background Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias. Results In this study we have sampled over 800 unrelated individuals from the p...

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Detalles Bibliográficos
Autores: Gayán, Javier, Galan, José J., González-Pérez, Antonio, Sáez, María Eugenia, Martínez-Larrad, María Teresa, Zabena, Carina, Ramírez Lorca, Reposo, Real Navarrete, Luis Miguel, Serrano-Ríos, Manuel
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2010
País:España
Institución:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/176814
Acceso en línea:https://hdl.handle.net/11441/176814
https://doi.org/10.1186/1471-2164-11-326
Access Level:acceso abierto
Palabra clave:Copy-Number Variations
Human Genome
European Populations
Haplotype Map
Association
Prevalence
Disease
Descripción
Sumario:Background Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias. Results In this study we have sampled over 800 unrelated individuals from the population of Spain, and have genotyped them with a genome-wide coverage. We have carried out linkage disequilibrium, haplotype, population structure and copy-number variation (CNV) analyses, and have compared these estimates of the Spanish population with existing data from similar efforts. Conclusions In general, the Spanish population is similar to the Western and Northern Europeans, but has a more diverse haplotypic structure. Moreover, the Spanish population is also largely homogeneous within itself, although patterns of micro-structure may be able to predict locations of origin from distant regions. Finally, we also present the first characterization of a CNV map of the Spanish population. These results and original data are made available to the scientific community.