Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

• Published in: European journal of human genetics : EJHG Vol. 29; no. 10; pp. 1557 - 1565
• Main Authors: Maceda, Iago, Álvarez, Miguel Martín, Athanasiadis, Georgios, Tonda, Raúl, Camps, Jordi, Beltran, Sergi, Camps, Agustí, Fàbrega, Jordi, Felisart, Josefina, Grané, Joan, Remón, José Luis, Serra, Jordi, Moral, Pedro, Lao, Oscar
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.10.2021; Springer International Publishing
• Subjects: Consanguinity; Gene Pool; Genomes; Haplotypes; Humans; Linkage Disequilibrium; Nucleotide sequence; Polymorphism, Genetic; Population; Population structure; Reproductive Isolation; Rural areas; Rural Population; Rural populations; Spain; Whole Genome Sequencing - statistics & numerical data; Spain
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/s41431-021-00875-0

The area of the Spanish Pyrenees is particularly interesting for studying the demographic dynamics of European rural areas given its orography, the main traditional rural condition of its population and the reported higher patterns of consanguinity of the region. Previous genetic studies suggest a gradient of genetic continuity of the area in the West to East axis. However, it has been shown that micro-population substructure can be detected when considering high-quality NGS data and using spatial explicit methods. In this work, we have analyzed the genome of 30 individuals sequenced at 40× from five different valleys in the Spanish Eastern Pyrenees (SEP) separated by less than 140 km along a west to east axis. Using haplotype-based methods and spatial analyses, we have been able to detect micro-population substructure within SEP not seen in previous studies. Linkage disequilibrium and autozygosity analyses suggest that the SEP populations show diverse demographic histories. In agreement with these results, demographic modeling by means of ABC-DL identify heterogeneity in their effective population sizes despite of their close geographic proximity, and suggests that the population substructure within SEP could have appeared around 2500 years ago. Overall, these results suggest that each rural population of the Pyrenees could represent a unique entity.