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High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations

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Abstract

A recent study reported that Basques do not constitute a genetically distinct population, and that Basques from Spanish and French provinces do not show significant genetic similarity. These conclusions disagree with numerous previous studies, and are not consistent with the historical and linguistic evidence that supports the distinctiveness of Basques. In order to further investigate this controversy, we have genotyped 83 Spanish Basque individuals and used these data to infer population structure based on more than 60,000 single nucleotide polymorphisms of several European populations. Here, we present the first high-throughput analysis including Basques from Spanish and French provinces, and show that all Basques constitute a homogeneous group that can be clearly differentiated from other European populations.

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Acknowledgments

We wish to thank all participating individuals for blood donation, Lore Erriondo (Udako Euskal Unibertsitatea) for assistance in sample collection, Miguel Angel Vesga for technical support, and Ewa Gubb, Ane Fullaondo and Michael P. Cummings for useful comments on the manuscript. This project was supported by the Department of Industry, Tourism and Trade of the Government of the Autonomous Community of the Basque Country (Etortek Research Programs 2005/2006/2007) and from the Innovation Technology Department of the County of Biscay.

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Correspondence to Naiara Rodríguez-Ezpeleta or Ana María Aransay.

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Rodríguez-Ezpeleta, N., Álvarez-Busto, J., Imaz, L. et al. High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations. Hum Genet 128, 113–117 (2010). https://doi.org/10.1007/s00439-010-0833-4

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