Genomic and genealogical investigation of the French Canadian founder population structure |
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Authors: | Marie-Hélène Roy-Gagnon Claudia Moreau Claude Bherer Pascal St-Onge Daniel Sinnett Catherine Laprise Hélène Vézina Damian Labuda |
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Institution: | 1.Department of Social and Preventive Medicine,Université de Montréal,Montréal,Canada;2.CHU Ste-Justine Research Center,Montréal,Canada;3.Department of Pediatrics,Université de Montréal,Montréal,Canada;4.Department of Fundamental Sciences,Université du Québec à Chicoutimi,Chicoutimi,Canada;5.Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG),Université du Québec à Chicoutimi,Chicoutimi,Canada;6.Department of Human Sciences,Université du Québec à Chicoutimi,Chicoutimi,Canada |
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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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