The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees

The genetic variation of the European population at a macro-geographic scale follows genetic gradients which reflect main migration events. However, less is known about factors affecting mating patterns at a micro-geographic scale. In this study we have analyzed 726,718 autosomal single nucleotide v...

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Bibliographic Details
Authors: Fibla, Joan; Maceda Porto, Iago, 1986-; Laplana, Marina; Guerrero, Montserrat; Martín Álvarez, Miguel; Burgueño, Jesús; Camps, Agustí; Fàbrega, Jordi; Felisart, Josefina; Grané, Joan; Remón, José Luis; Serra, Jordi; Moral, Pedro; Lao Grueso, Oscar, 1976-
Format: Article
Status:Published version
Publication date:2023
Country:España
Institution:Universitat Pompeu Fabra
Repository:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/56246
Online Access:http://hdl.handle.net/10230/56246
http://dx.doi.org/10.3389/fgene.2022.1100440
Access Level:Open access
Keyword:Bishopric boundaries
Genetic variation
Inbreeding
Population differentiation
Rural catalan Pyrenees
Rural population
Description
Summary:The genetic variation of the European population at a macro-geographic scale follows genetic gradients which reflect main migration events. However, less is known about factors affecting mating patterns at a micro-geographic scale. In this study we have analyzed 726,718 autosomal single nucleotide variants in 435 individuals from the catalan Pyrenees covering around 200 km of a vast and abrupt region in the north of the Iberian Peninsula, for which we have information about the geographic origin of all grand-parents and parents. At a macro-geographic scale, our analyses recapitulate the genetic gradient observed in Spain. However, we also identified the presence of micro-population substructure among the sampled individuals. Such micro-population substructure does not correlate with geographic barriers such as the expected by the orography of the considered region, but by the bishoprics present in the covered geographic area. These results support that, on top of main human migrations, long ongoing socio-cultural factors have also shaped the genetic diversity observed at rural populations.