ArticleEuropean journal of human genetics : EJHG2016
Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Introgression across ploidies contributes to genetic diversity in introduced urbanbioRxiv : the preprint server for biology · 2026Article
- Transcriptomic analysis of human cartilage identified potential therapeutic targets for hip osteoarthritis.Human molecular genetics · 2025Article
- Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population.European journal of human genetics : EJHG · 2025Article
- Postoperative joint pain is associated with long-term all-cause mortality after total joint arthroplasty.PloS one · 2025Article
- Association between dietary selenium intake and the prevalence of prediabetes in Newfoundland population: a cross-sectional study.Frontiers in nutrition · 2025Article
- "Unnatural resources?": parallels and distinctions between the Newfoundland Genome and traditional resource sectors.Journal of community genetics · 2024Article
- Impact of the COVID-19 pandemic on diagnosis of renal cell carcinoma and disease stage at presentation.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2024Article
- Genomic heterozygosity is associated with a lower risk of osteoarthritis.BMC genomics · 2024Article
- A population-based analysis of the epidemiology of penile cancer in Newfoundland and Labrador.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2024Article
- Specialty Care and Counselling about Hereditary Cancer Risk Improves Adherence to Cancer Screening and Prevention in Newfoundland and Labrador Patients withCurrent oncology (Toronto, Ont.) · 2023Article
- The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Communications biology · 2023Article
- Article
- The Association of Upper Body Obesity with Insulin Resistance in the Newfoundland Population.International journal of environmental research and public health · 2021Article
- Macrophage migration inhibitory factor may play a protective role in osteoarthritis.Arthritis research & therapy · 2021Article
- The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.European journal of human genetics : EJHG · 2020Article
- Estimating Lactase Nonpersistence Distributions in the Multi-Ethnic Canadian Demographic: A Population-Based Study.Journal of the Canadian Association of Gastroenterology · 2020Article
- A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.Molecular genetics & genomic medicine · 2020Article
- Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia.BMC medical genetics · 2018Article
- Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.Human mutation · 2018Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
The population of the province of Newfoundland and Labrador (NL) has been a resource for genetic studies because of its historical isolation and increased prevalence of several monogenic disorders. Controversy remains regarding the genetic substructure and the extent of genetic homogeneity, which have implications for disease gene mapping. Population substructure has been reported from other isolated populations such as Iceland, Finland and Sardinia. We undertook this study to further our understanding of the genetic architecture of the NL population. We enrolled 494 individuals randomly selected from NL. Genome-wide SNP data were analyzed together with that from 14 other populations including HapMap3, Ireland, Britain and Native American samples from the Human Genome Diversity Project. Using multidimensional scaling and admixture analysis, we observed that the genetic structure of the NL population resembles that of the British population but can be divided into three clusters that correspond to religious/ethnic origins: Protestant English, Roman Catholic Irish and North American aboriginals. We observed reduced heterozygosity and an increased inbreeding coefficient (mean=0.005), which corresponds to that expected in the offspring of third-cousin marriages. We also found that the NL population has a significantly higher number of runs of homozygosity (ROH) and longer lengths of ROH segments. These results are consistent with our understanding of the population history and indicate that the NL population may be ideal for identifying recessive variants for complex diseases that affect populations of European origin.
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