A genome-wide survey does not show the genetic distinctiveness of Basques.
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.
Laayouni
Hafid
H
IBE, Institute of Evolutionary Biology (UPF-CSIC), CEXS-UPF-PRBB, Barcelona, Catalonia, Spain. hafid.laayouni@upf.edu
Calafell
Francesc
F
Bertranpetit
Jaume
J
D000483:Alleles; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D025341:Principal Component Analysis; D013030:Spain