Human Genetics

, Volume 127, Issue 4, pp 455–458 | Cite as

A genome-wide survey does not show the genetic distinctiveness of Basques

  • Hafid LaayouniEmail author
  • Francesc Calafell
  • Jaume Bertranpetit
Short Report


Basques are a cultural isolate, and, according to mainly allele frequencies of classical polymorphisms, also a genetic isolate. We investigated the differentiation of Spanish Basques from the rest of Iberian populations by means of a dense, genome-wide SNP array. We found that F ST distances between Spanish Basques and other populations were similar to those between pairs of non-Basque populations. The same result is found in a PCA of individuals, showing a general distinction between Iberians and other South Europeans independently of being Basques. Pathogen-mediated natural selection may be responsible for the high differentiation previously reported for Basques at very specific genes such as ABO, RH, and HLA. Thus, Basques cannot be considered a genetic outlier under a general genome scope and interpretations on their origin may have to be revised.


Quality Control Criterion Genetic Distinctiveness Informative SNPs Iberian Population North African Origin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



This research was supported by Genoma España (Proyecto Piloto CeGen), Dirección General de Investigación, Ministerio de Ciencia y Tecnología, Spain (grants SAF2007-63171, BFU2007-63657) and Direcció General de Recerca, Generalitat de Catalunya (2005SGR00608). SNP genotyping services were provided by the Spanish “Centro Nacional de Genotipado” (CEGEN; Bioinformatic services were kindly provided by the Genomic Diversity node, Spanish Bioinformatic Institute (

Supplementary material

439_2010_798_MOESM1_ESM.doc (244 kb)
Supplementary material 1 (DOC 244 kb)


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Hafid Laayouni
    • 1
    • 2
    Email author
  • Francesc Calafell
    • 1
    • 2
  • Jaume Bertranpetit
    • 1
    • 2
  1. 1.IBE, Institute of Evolutionary Biology (UPF-CSIC), CEXS-UPF-PRBBBarcelona, CataloniaSpain
  2. 2.Centro de Investigación Biomédica En Red, Epidemiología y Salud Pública (CIBERESP)BarcelonaSpain

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