Whole-genome sequencing of 40 individuals from the Faroe Islands has shed new light on how this remote North Atlantic population descended from an ancient founder group and how evolutionary forces have shaped their genomes over time. The findings, published in eLife, offer insights into the genetic underpinnings of diseases that occur at elevated rates on the islands, including type 2 diabetes and multiple sclerosis.
The Faroe Islands sit between Iceland and Norway and are home to descendants of a founder population whose settlement history remains only partially understood. Records suggest a small number of founders arrived from Scandinavia and the British Isles around the 9th century CE, though archaeological evidence points to potentially earlier habitation. All sequencing for the study was conducted locally, in the FarGen laboratory on the Faroe Islands, as part of the Faroe Genome (FarGen) project.
"No population genomic studies of this scale have yet been carried out on whole-genome sequencing data from Faroese individuals to date. An in-depth analysis of individuals' genomic architecture may reveal how the islands' demographic history has contributed to present-day health and disease in the population and may shed light on why there's a high prevalence of certain diseases such as type 2 diabetes and multiple sclerosis," said Iman Hamid, co-first author of the study.
A key finding involved runs of homozygosity—continuous stretches of identical genotypes inherited from both parents. Faroese individuals carry a higher proportion of long runs of homozygosity than even Finnish individuals, a well-studied founder population, suggesting a more recent or stronger evolutionary bottleneck in Faroese history and a significant reduction in genetic diversity at some point in the past.
Sequencing data also identified genes that underwent positive selection in the Faroese population. Many overlapped with the British population, reflecting shared ancestry, but several were unique. These included the lactase persistence gene, potentially tied to the later introduction of dairy into the traditional diet, along with POLQ, involved in DNA repair and cancer, and SLC10A1, which plays a role in vitamin D absorption—relevant given the islands' northern latitude and limited UV exposure.
Ancestry analysis comparing Faroese genomes against European datasets spanning 3,000 years suggests the present-day population descended from already-admixed founders of both Northern and Western European ancestry.
"Our study highlights the impact of evolutionary processes, such as ancient admixture and positive selection, on the present-day genetic make-up of the Faroese population. Future studies should combine genomic data with physical traits to provide insights into the genetic mechanisms underlying those traits, especially those involved in autoimmune and metabolic disease on the Islands," said Noomi Gregersen, corresponding author of the study.
The Faroe Islands sit between Iceland and Norway and are home to descendants of a founder population whose settlement history remains only partially understood. Records suggest a small number of founders arrived from Scandinavia and the British Isles around the 9th century CE, though archaeological evidence points to potentially earlier habitation. All sequencing for the study was conducted locally, in the FarGen laboratory on the Faroe Islands, as part of the Faroe Genome (FarGen) project.
"No population genomic studies of this scale have yet been carried out on whole-genome sequencing data from Faroese individuals to date. An in-depth analysis of individuals' genomic architecture may reveal how the islands' demographic history has contributed to present-day health and disease in the population and may shed light on why there's a high prevalence of certain diseases such as type 2 diabetes and multiple sclerosis," said Iman Hamid, co-first author of the study.
A key finding involved runs of homozygosity—continuous stretches of identical genotypes inherited from both parents. Faroese individuals carry a higher proportion of long runs of homozygosity than even Finnish individuals, a well-studied founder population, suggesting a more recent or stronger evolutionary bottleneck in Faroese history and a significant reduction in genetic diversity at some point in the past.
Sequencing data also identified genes that underwent positive selection in the Faroese population. Many overlapped with the British population, reflecting shared ancestry, but several were unique. These included the lactase persistence gene, potentially tied to the later introduction of dairy into the traditional diet, along with POLQ, involved in DNA repair and cancer, and SLC10A1, which plays a role in vitamin D absorption—relevant given the islands' northern latitude and limited UV exposure.
Ancestry analysis comparing Faroese genomes against European datasets spanning 3,000 years suggests the present-day population descended from already-admixed founders of both Northern and Western European ancestry.
"Our study highlights the impact of evolutionary processes, such as ancient admixture and positive selection, on the present-day genetic make-up of the Faroese population. Future studies should combine genomic data with physical traits to provide insights into the genetic mechanisms underlying those traits, especially those involved in autoimmune and metabolic disease on the Islands," said Noomi Gregersen, corresponding author of the study.