New study details ancestry and other contributions to the genetic substructure of the Newfoundland and Labrador founder population

October 29, 2024

New study details ancestry and other contributions to the genetic substructure of the Newfoundland and Labrador founder population

St. John’s, Newfoundland and Labrador, Canada 

The population of Newfoundland and Labrador (NL) is largely derived from settlers who migrated primarily from England and Ireland in the 1700s–1800s. Previously described as an isolated founder population, based on historical and demographic studies, data on the genetic ancestry of this population remains fragmentary.

In this study, titled Characterization of Y chromosome diversity in Newfoundland and Labrador: evidence for a structured founding population, we describe the largest investigation of patrilineal ancestry in NL.

To determine the paternal genetic structure of the population, 1,110 Y chromosomes from an NL-based cohort were analyzed using 5,761 Y-specific SNPs. We identified 160 distinct terminal haplogroups, the majority of which (71.4%) belong to the R1b haplogroup. When compared with global reference populations, the NL population haplogroup composition and frequencies primarily resemble those observed in English and Irish ancestral source populations. There is also evidence of genetic contributions from Basque, French, Portuguese, and Spanish fishermen and early settlers who frequented NL.

The clustering and expansion of Y haplogroups in conjunction with the geographical and religious clusters illustrate that limited subsequent in-migration, geographic isolation, and societal factors have contributed to the genetic substructure of the NL population and its designation as a founder population.

This study is the most detailed of its kind and highlights NL as an excellent example of a population exhibiting founder effects resulting from limited genetic input followed by generations of geographical and societal isolation. These data, combined with previous research from Sequence Bio, provide a better understanding of the NL genetic population structure and it’s suitability for the identification and study of health-related genetic variants.

Read the full study, published in Nature’s European Journal of Human Genetics, here.