caa a22 4500 445861878 CHVBK 20180317145446.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s00439-010-0945-x doi (NATIONALLICENCE)springer-10.1007/s00439-010-0945-x Genomic and genealogical investigation of the French Canadian founder population structure [Elektronische Daten] [Marie-Hélène Roy-Gagnon, Claudia Moreau, Claude Bherer, Pascal St-Onge, Daniel Sinnett, Catherine Laprise, Hélène Vézina, Damian Labuda] 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. Springer-Verlag, 2011 Roy-Gagnon Marie-Hélène Department of Social and Preventive Medicine, Université de Montréal, Montréal, QC, Canada aut Moreau Claudia CHU Ste-Justine Research Center, Montréal, QC, Canada aut Bherer Claude CHU Ste-Justine Research Center, Montréal, QC, Canada aut St-Onge Pascal CHU Ste-Justine Research Center, Montréal, QC, Canada aut Sinnett Daniel CHU Ste-Justine Research Center, Montréal, QC, Canada aut Laprise Catherine Department of Fundamental Sciences, Université du Québec à Chicoutimi, Chicoutimi, QC, Canada aut Vézina Hélène Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG), Université du Québec à Chicoutimi, Chicoutimi, QC, Canada aut Labuda Damian CHU Ste-Justine Research Center, Montréal, QC, Canada aut Human Genetics Springer-Verlag 129/5(2011-05-01), 521-531 0340-6717 129:5<521 2011 129 439 https://doi.org/10.1007/s00439-010-0945-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0945-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Roy-Gagnon Marie-Hélène Department of Social and Preventive Medicine, Université de Montréal, Montréal, QC, Canada aut NATIONALLICENCE 700 1- Moreau Claudia CHU Ste-Justine Research Center, Montréal, QC, Canada aut NATIONALLICENCE 700 1- Bherer Claude CHU Ste-Justine Research Center, Montréal, QC, Canada aut NATIONALLICENCE 700 1- St-Onge Pascal CHU Ste-Justine Research Center, Montréal, QC, Canada aut NATIONALLICENCE 700 1- Sinnett Daniel CHU Ste-Justine Research Center, Montréal, QC, Canada aut NATIONALLICENCE 700 1- Laprise Catherine Department of Fundamental Sciences, Université du Québec à Chicoutimi, Chicoutimi, QC, Canada aut NATIONALLICENCE 700 1- Vézina Hélène Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG), Université du Québec à Chicoutimi, Chicoutimi, QC, Canada aut NATIONALLICENCE 700 1- Labuda Damian CHU Ste-Justine Research Center, Montréal, QC, Canada aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/5(2011-05-01), 521-531 0340-6717 129:5<521 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer