School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.
FutureNeuro SFI Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland.
Commun Biol. 2023 Apr 28;6(1):469. doi: 10.1038/s42003-023-04844-9.
The founder population of Newfoundland and Labrador (NL) is a unique genetic resource, in part due to its geographic and cultural isolation, where historical records describe a migration of European settlers, primarily from Ireland and England, to NL in the 18th and 19th centuries. Whilst its historical isolation, and increased prevalence of certain monogenic disorders are well appreciated, details of the fine-scale genetic structure and ancestry of the population are lacking. Understanding the genetic origins and background of functional, disease causing, genetic variants would aid genetic mapping efforts in the Province. Here, we leverage dense genome-wide SNP data on 1,807 NL individuals to reveal fine-scale genetic structure in NL that is clustered around coastal communities and correlated with Christian denomination. We show that the majority of NL European ancestry can be traced back to the south-east and south-west of Ireland and England, respectively. We date a substantial population size bottleneck approximately 10-15 generations ago in NL, associated with increased haplotype sharing and autozygosity. Our results reveal insights into the population history of NL and demonstrate evidence of a population conducive to further genetic studies and biomarker discovery.
纽芬兰与拉布拉多省（NL）的创始人群体是一种独特的遗传资源，部分原因在于其地理和文化上的隔离，历史记录描述了 18 世纪和 19 世纪欧洲移民者，主要来自爱尔兰和英国，向 NL 的迁移。尽管其历史上的隔离以及某些单基因疾病的高发率已得到充分认识，但有关该人群的精细遗传结构和祖先的详细信息却很缺乏。了解功能、致病遗传变异的遗传起源和背景将有助于该省的遗传图谱绘制工作。在这里，我们利用 1807 名 NL 个体的密集全基因组 SNP 数据来揭示 NL 内部的精细遗传结构，这些结构围绕着沿海社区聚类，并与基督教教派相关。我们表明，NL 的大多数欧洲祖先可以追溯到爱尔兰和英国的东南和西南地区。我们追溯到大约 10-15 代前 NL 发生了一次人口规模的瓶颈，这与增加的单倍型共享和自交有关。我们的研究结果揭示了 NL 人口历史的深入见解，并提供了有利于进一步遗传研究和生物标志物发现的人口证据。
