Genetic differences within or between human populations (population structure) has been studied using a variety of approaches over many years. Recently there has been an increasing focus on studying genetic differentiation at fine geographic scales, such as within countries. Identifying such structure allows the study of recent population history, and identifies the potential for confounding in association studies, particularly when testing rare, often recently arisen variants. The Iberian
A manuscript co-authored by Angel Carracedo, from the University of Santiago de Compostela, and (always according to him) pre-accepted in Nature, will offer more insight into the population substructure of Spain, based on autosomal DNA.
Carracedo’s lecture about DNA (in Galician), including his summary of the paper (from december 2017):
Some of the points made in the video:
The study shows a situation parallelling – as expected – the expansion of Spanish Medieval kingdoms during the Reconquista (and subsequent repopulation).
In it, the biggest surprise seems to be the greater substructure found in Galicia, the north-western Spanish
We examined tau haplotype frequencies in two different ethnical groups from the Basque Country (BC): Roma people and residents of European ancestry (general population). In addition, we analyzed the spatial distribution of tau haplotypes in Eurasian populations to explore the genetic affinities of the Romani groups living in Europe in a broader scope. The 17q21.31 genomic region was characterized through the genotyping of two diagnostic single nucleotide polymorphisms, SNPs (rs10514879 and rs199451), which allow the
Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where