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-Ezpeleta
  • Jon Álvarez-Busto
  • Liher Imaz
  • María Regueiro
  • María Nerea Azcárate
  • Roberto Bilbao
  • Mikel Iriondo
  • Ana Gil
  • Andone Estonba
  • Ana María Aransay
Short Report

DOI: 10.1007/s00439-010-0833-4

Cite this article as:
Rodríguez-Ezpeleta, N., Álvarez-Busto, J., Imaz, L. et al. Hum Genet (2010) 128: 113. doi:10.1007/s00439-010-0833-4

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.

Supplementary material

439_2010_833_MOESM1_ESM.doc (350 kb)
Supplementary material 1 (DOC 350 kb)

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Naiara Rodríguez-Ezpeleta
    • 1
  • Jon Álvarez-Busto
    • 1
  • Liher Imaz
    • 1
  • María Regueiro
    • 1
    • 4
  • María Nerea Azcárate
    • 2
    • 5
  • Roberto Bilbao
    • 2
  • Mikel Iriondo
    • 3
  • Ana Gil
    • 3
  • Andone Estonba
    • 3
  • Ana María Aransay
    • 1
  1. 1.Genome Analysis Platform, Functional Genomics UnitCIC bioGUNEDerioSpain
  2. 2.Basque Foundation for Health Innovation and ResearchSondikaSpain
  3. 3.Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and TechnologyUniversity of the Basque CountryLeioaSpain
  4. 4.Department of Molecular and Human Genetics, College of MedicineFlorida International UniversityMiamiUSA
  5. 5.Centro Vasco de Transfusión y Tejidos HumanosGaldakaoSpain