Human Genetics

, Volume 129, Issue 5, pp 521–531 | Cite as

Genomic and genealogical investigation of the French Canadian founder population structure

  • Marie-Hélène Roy-Gagnon
  • Claudia Moreau
  • Claude Bherer
  • Pascal St-Onge
  • Daniel Sinnett
  • Catherine Laprise
  • Hélène Vézina
  • Damian Labuda
Original Investigation


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.

Supplementary material

439_2010_945_MOESM1_ESM.doc (1.8 mb)
Supplementary material 1 (DOC 1,819 kb)


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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Marie-Hélène Roy-Gagnon
    • 1
    • 2
  • Claudia Moreau
    • 2
  • Claude Bherer
    • 2
  • Pascal St-Onge
    • 2
  • Daniel Sinnett
    • 2
    • 3
  • Catherine Laprise
    • 4
    • 5
  • Hélène Vézina
    • 5
    • 6
  • Damian Labuda
    • 2
    • 3
  1. 1.Department of Social and Preventive MedicineUniversité de MontréalMontréalCanada
  2. 2.CHU Ste-Justine Research CenterMontréalCanada
  3. 3.Department of PediatricsUniversité de MontréalMontréalCanada
  4. 4.Department of Fundamental SciencesUniversité du Québec à ChicoutimiChicoutimiCanada
  5. 5.Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG)Université du Québec à ChicoutimiChicoutimiCanada
  6. 6.Department of Human SciencesUniversité du Québec à ChicoutimiChicoutimiCanada

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