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High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations
Authors:Naiara Rodríguez-Ezpeleta  Jon Álvarez-Busto  Liher Imaz  María Regueiro  María Nerea Azcárate  Roberto Bilbao  Mikel Iriondo  Ana Gil  Andone Estonba  Ana María Aransay
Affiliation:1. Genome Analysis Platform, Functional Genomics Unit, CIC bioGUNE, Bizkaia Technology Park, Building 502, 48160, Derio, Spain
4. Department of Molecular and Human Genetics, College of Medicine, Florida International University, Miami, FL, 33199, USA
2. Basque Foundation for Health Innovation and Research, Plaza Asua 1, 48150, Sondika, Spain
5. Centro Vasco de Transfusión y Tejidos Humanos, Barrio Labeaga s/n, 48960, Galdakao, Spain
3. Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country, 48940, Leioa, Spain
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.
Keywords:
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