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Genomic and genealogical investigation of the French Canadian founder population structure

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Abstract

Characterizing the genetic structure of worldwide populations is important for understanding human history and is essential to the design and analysis of genetic epidemiological studies. In this study, we examined genetic structure and distant relatedness and their effect on the extent of linkage disequilibrium (LD) and homozygosity in the founder population of Quebec (Canada). In the French Canadian founder population, such analysis can be performed using both genomic and genealogical data. We investigated genetic differences, extent of LD, and homozygosity in 140 individuals from seven sub-populations of Quebec characterized by different demographic histories reflecting complex founder events. Genetic findings from genome-wide single nucleotide polymorphism data were correlated with genealogical information on each of these sub-populations. Our genomic data showed significant population structure and relatedness present in the contemporary Quebec population, also reflected in LD and homozygosity levels. Our extended genealogical data corroborated these findings and indicated that this structure is consistent with the settlement patterns involving several founder events. This provides an independent and complementary validation of genomic-based studies of population structure. Combined genomic and genealogical data in the Quebec founder population provide insights into the effects of the interplay of two important sources of bias in genetic epidemiological studies, unrecognized genetic structure and cryptic relatedness.

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Acknowledgments

We are grateful to all participants who generously shared their DNA and information required to reconstruct their genealogies and to Laurent Richard from the Historical Geography Laboratory at Laval University (QC, Canada) for cartography work. Support of the Réseau de Médecine Génétique Appliquée (RMGA) of the Fonds de la Recherche en Santé du Québec (FRSQ) as well as of the Canadian Institutes of Health Research (CIHR; to DL and HV) is gratefully acknowledged. CB was supported by a studentship from the Fondation de l’Hôpital Sainte-Justine and the Fondation des Étoiles and is now scholar from the FRSQ.

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Authors and Affiliations

  1. Department of Social and Preventive Medicine, Université de Montréal, Montréal, QC, Canada

    Marie-Hélène Roy-Gagnon

  2. CHU Ste-Justine Research Center, Montréal, QC, Canada

    Marie-Hélène Roy-Gagnon, Claudia Moreau, Claude Bherer, Pascal St-Onge, Daniel Sinnett & Damian Labuda

  3. Department of Pediatrics, Université de Montréal, Montréal, QC, Canada

    Daniel Sinnett & Damian Labuda

  4. Department of Fundamental Sciences, Université du Québec à Chicoutimi, Chicoutimi, QC, Canada

    Catherine Laprise

  5. Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG), Université du Québec à Chicoutimi, Chicoutimi, QC, Canada

    Catherine Laprise & Hélène Vézina

  6. Department of Human Sciences, Université du Québec à Chicoutimi, Chicoutimi, QC, Canada

    Hélène Vézina

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  1. Marie-Hélène Roy-Gagnon
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  2. Claudia Moreau
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Correspondence to Marie-Hélène Roy-Gagnon or Damian Labuda.

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Roy-Gagnon, MH., Moreau, C., Bherer, C. et al. Genomic and genealogical investigation of the French Canadian founder population structure. Hum Genet 129, 521–531 (2011). https://doi.org/10.1007/s00439-010-0945-x

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