Título: Genomics, epidemiology and demography of human populations from five Pyrenean regions
IP: Dr. Pedro Moral
Resumen del proyecto: The substructure of human populations plays a key role in explaining the pattern of neutral genetic variants in current populations, and it is closely linked to geographic phenomena such as isolation by distance or natural barriers, and to cultural factors such as religion or language. Furthermore, it is fundamental for interpreting the output from genetic epidemiological studies.
So far, much focus has been on studying the macro-spatial structure (i.e. continental and country level) of the genetic diversity of human populations, partly due to limitations on available sampled datasets, achievable spatial resolution with SNP microarrays based on common variants and available algorithms. However, recent studies on well characterized genealogical, anthropological and clinical information samples suggest that sub-populations (micro-spatial analysis) can provide much more information than macrospatial studies on the recent history of populations (impact of historical migrations, existence of small-scale geographical barriers, etc.) and helping on understanding genetic susceptibility to common diseases.
In this context, the human populations of the Pyrenees appear as a particularly interesting group within Europe, and almost unique in the Iberian Peninsula. First, because they are basically rural populations; second, they show a complex socio-ecological system; third, they are geographical barrier, both with respect to the Iberian Peninsula with the rest of Europe, and between valleys in the Pyrenees, and finally because they show particular genetic characteristics compared to other Spanish populations.
Entidad financiadora: Ministerio de Ciencia e Innovación