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

Hum Genet. 2010 Apr;127(4):455-8. doi: 10.1007/s00439-010-0798-3. Epub 2010 Feb 16.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Ethnicity / genetics*
  • Female
  • Gene Frequency
  • Genetics, Population
  • Genome-Wide Association Study
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Principal Component Analysis
  • Spain