Open Access Highly Accessed Research article

Genetic Structure of the Spanish Population

Javier Gayán1, José J Galan1, Antonio González-Pérez1, María Eugenia Sáez1, María Teresa Martínez-Larrad2, Carina Zabena2, M Carmen Rivero1, Ana Salinas1, Reposo Ramírez-Lorca1, Francisco J Morón1, Jose Luis Royo1, Concha Moreno-Rey1, Juan Velasco1, José M Carrasco1, Eva Molero1, Carolina Ochoa1, María Dolores Ochoa1, Marta Gutiérrez1, Mercedes Reina1, Rocío Pascual1, Alejandro Romo-Astorga1, Juan Luis Susillo-González1, Enrique Vázquez1, Luis M Real1, Agustín Ruiz1* and Manuel Serrano-Ríos2*

Author Affiliations

1 Department of Structural Genomics, Neocodex, Sevilla, Spain

2 CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Department of Internal Medicine II, Hospital Clínico San Carlos, Madrid, Spain

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BMC Genomics 2010, 11:326  doi:10.1186/1471-2164-11-326

Published: 25 May 2010

Abstract

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.