Liher Imaz, Ana María Aransay
and Naiara Rodríguez-Ezpeleta

A population genetics study by Basque researchers confirms that native Basque population, both in Spanish regions and the French Basque Country, is a genetically homogeneous group clearly distinguishable from other European populations, as published by the journal Human Genetics.

The study was conducted by a consortium made up of CIC bioGUNE, the Department of Genetics, Physical Anthropology and Animal Physiology of University of the Basque Country (UPV/EHU) and the Basque Biobank for Research (O+Ehun) of the B+I+O Basque Foundation.

This project, launched in 2005 by collecting samples, is the first large-scale population study which includes individual genetic data of Basque citizens living in French and Spanish territories. In this sense, “it is very satisfactory to present such a robust study”, says Ana Mª Aransay, project co-ordinator and manager of the Genomic Analysis Platform of CIC bioGUNE.

A total of 60,000 genetic markers from 240 European citizens have been analyzed, of which 83 are Basque-Spanish (22 from each region of the Autonomous Basque Community –Alava, Biscay and Gipuzkoa–, and 17 from the Foral Community of Navarre), and 24 Basque-French. The remaining 133 people are from different European populations (France, Northern Italy, Tuscany, Orkney Islands –Scotland–, Sardinia, Russia and Republic of Adygea –Russia–).

Genetic data from European populations have been obtained from the HGDP-CEPH Human Genome Diversity Cell Line Panel database, belonging to the Fondation Jean Dausset. Otherwise, the samples and genetic data from the Basque-Spanish citizens have been gathered specifically for this study and will be available for future studies. The samples of the Spanish-Basque citizens categorised in this study form part of the Basque Biobank (O + Ehun) collection.

"The study suggests that there is no special 'particular' genetic feature in the Basque population compared with other regions, as the Basques can be as 'particular' genetically speaking as the Sardinians, Orcadians, Russians, etc.", states Naiara Rodríguez-Ezpeleta, researcher of CIC bioGUNE who participated in the study. "The conclusion of the study is that the Basques are as different from other European populations as those European populations that are considered to be isolated, i.e., that Europe is divided into groups and one of these groups are the Basques", says Rodríguez-Ezpeleta.