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A new study conducted by the RCSI University of Medicine and Health Sciences, based in Dublin, Ireland, and Sequence Bio, a precision medicine and genomics company based in St. John’s, Newfoundland and Labrador (NL), Canada. , produced the most detailed genetic analysis of people living in the Canadian province to date, demonstrating a unique founder population structure that could be used for the identification and study of health-related genetic variants.
The study, titled ‘Newfoundland and Labrador: a mosaic founding population of an Irish and British diaspora 300 years ago’, has been published in the journal Nature. Communications Biology.
By studying the genetic profiles of 1,807 individual volunteers from Sequence Bio’s Newfoundland and Labrador Genome Project (NLGP), and comparing the resulting fine-scale genetic structure of NL to reference data sets for Ireland and England, the scientists demonstrated that a significant proportion of the NL-derived population can be traced back to settlers who migrated mainly from south-east Ireland and south-west England some three centuries ago.
“By looking at the ways in which Newfoundlands and Labradors are genetically related to each other, and even to present-day Irish and English individuals, we were able to show that European ancestry in NL is primarily descended from Irish and English settlers in the late 18th to early 18th centuries. century,” explains Dr Edmund Gilbert, Professor in the School of Pharmacy and Biomolecular Sciences at RCSI and FutureNeuro, the Science Foundation of Ireland’s (SFI) Research Center for Rare and Chronic Neurological Diseases.
Dr Gilbert, the study’s first author, used well-characterized population reference data sets, such as the Irish DNA Atlas, to link English and Irish ancestry in NL to specific regions of Ireland, and to track how isolation social and geographic influenced NL communities at the level of their DNA.
Dr Gerald Mugford, Research Director at Sequence Bio, commented on the study: “Through this expert collaboration with RCSI, we now have a much deeper understanding of the ancestry of the current NL population and the origins of variants. genes that could be significant for the disease. discovery of genes in the province”.
Further analysis of the genetic data also shows multiple population bottlenecks, or reductions in population size, that occurred independently in the region about 300 years ago due to geographic isolation and the tendency of people to settle with others from the same country of origin and religious affiliation.
Professor Gianpiero Cavalleri, Professor of Human Genetics in RCSI’s School of Pharmacy and Biomolecular Sciences and Deputy Director of the SFI FutureNeuro Research Centre, helped lead the comparative study of genomes from Canada, Ireland and England. He said: “Genetic analysis supports historical accounts that around 25,000 European settlers arrived in the Netherlands in the 18th and 19th centuries, mainly from Ireland (mainly from Waterford, Wexford, south Kilkenny, south-east Tipperary and southeast Cork) and Dorset and Devon in England, as well as fishing ports such as Dartmouth, Plymouth or Southampton.
“In the study, we were able to see that Catholic background in Newfoundland and Labrador is still strongly associated with Irish genetic ancestry, just as Protestant background is with English genetic ancestry.”
Dr. Michael Phillips, lead author of the study, commented: “Our findings support the population structure of NL as a unique genetic landscape with founder effects.” He also pointed to the possible clinical and health-related significance of these patterns. “Because NL resembles that of other isolated island populations, there may be an opportunity to study the genetic makeup of specific subpopulations in NL to identify rare genetic variants that contribute to the risk and severity of certain diseases.”
The study was produced in collaboration with researchers from the Irish Genealogical Society, Trinity College Dublin, the US National Human Genome Research Institute and Oxford’s Weatherall Institute for Molecular Medicine.
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