Short Report

Human Genetics

, Volume 128, Issue 1, pp 113-117

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

  • Naiara Rodríguez-EzpeletaAffiliated withGenome Analysis Platform, Functional Genomics Unit, CIC bioGUNE Email author 
  • , Jon Álvarez-BustoAffiliated withGenome Analysis Platform, Functional Genomics Unit, CIC bioGUNE
  • , Liher ImazAffiliated withGenome Analysis Platform, Functional Genomics Unit, CIC bioGUNE
  • , María RegueiroAffiliated withGenome Analysis Platform, Functional Genomics Unit, CIC bioGUNEDepartment of Molecular and Human Genetics, College of Medicine, Florida International University
  • , María Nerea AzcárateAffiliated withBasque Foundation for Health Innovation and ResearchCentro Vasco de Transfusión y Tejidos Humanos
  • , Roberto BilbaoAffiliated withBasque Foundation for Health Innovation and Research
  • , Mikel IriondoAffiliated withDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country
  • , Ana GilAffiliated withDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country
  • , Andone EstonbaAffiliated withDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country
    • , Ana María AransayAffiliated withGenome Analysis Platform, Functional Genomics Unit, CIC bioGUNE Email author 

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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.