Native American Admixture in the Quebec Founder Population. Moreau, C., Lefebvre, J., Jomphe, M., Bhérer, C., Ruiz-Linares, A., Vézina, H., Roy-Gagnon, M., & Labuda, D. PLoS ONE, 8(6):1-9, Public Library of Science, 6, 2013.
abstract   bibtex   
For years, studies of founder populations and genetic isolates represented the mainstream of genetic mapping in the effort to target genetic defects causing Mendelian disorders. The genetic homogeneity of such populations as well as relatively homogeneous environmental exposures were also seen as primary advantages in studies of genetic susceptibility loci that underlie complex diseases. European colonization of the St-Lawrence Valley by a small number of settlers, mainly from France, resulted in a founder effect reflected by the appearance of a number of population-specific disease-causing mutations in Quebec. The purported genetic homogeneity of this population was recently challenged by genealogical and genetic analyses. We studied one of the contributing factors to genetic heterogeneity, early Native American admixture that was never investigated in this population before. Consistent admixture estimates, in the order of one per cent, were obtained from genome-wide autosomal data using the ADMIXTURE and HAPMIX software, as well as with the fastIBD software evaluating the degree of the identity-by-descent between Quebec individuals and Native American populations. These genomic results correlated well with the genealogical estimates. Correlations are imperfect most likely because of incomplete records of Native founders’ origin in genealogical data. Although the overall degree of admixture is modest, it contributed to the enrichment of the population diversity and to its demographic stratification. Because admixture greatly varies among regions of Quebec and among individuals, it could have significantly affected the homogeneity of the population, which is of importance in mapping studies, especially when rare genetic susceptibility variants are in play. [ABSTRACT FROM AUTHOR]
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 title = {Native American Admixture in the Quebec Founder Population.},
 type = {article},
 year = {2013},
 identifiers = {[object Object]},
 keywords = {Anthropology,Biology,Comparative genomics,Cultural anthropology,EPIDEMIOLOGY,Epidemiology,Ethnic groups,Evolutionary biology,GENE mapping,GENE targeting,Gene flow,Gene pool,Genetic epidemiology,Genomics,Geographic and national differences,Geography,Haplotypes,Historical geography,Human geography,ISOLATING mechanisms (Biology),MUTATION (Biology),POPULATION genetics,Population biology,Population genetics,QUEBEC (Province),Regional geography,Research Article,Settlement patterns},
 pages = {1-9},
 volume = {8},
 month = {6},
 publisher = {Public Library of Science},
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 notes = {<m:note>Accession Number: 88908560; Moreau, Claudia 1 Lefebvre, Jean-François 1 Jomphe, Michèle 2 Bhérer, Claude 1 Ruiz-Linares, Andres 3 Vézina, Hélène 2 Roy-Gagnon, Marie-Hélène 1,4; Email Address: mroygagn@uottawa.ca Labuda, Damian 1,5; Email Address: damian.labuda@umontreal.ca; Affiliation:  1: 1 Centre de Recherche, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada  2: 2 Projet BALSAC, Université du Québec à Chicoutimi, Chicoutimi, Québec, Canada  3: 3 Department of Genetics, Evolution and Environment, University College London, London, United Kingdom  4: 4 Department of Epidemiology &amp; Community Medicine, University of Ottawa, Ottawa, Ontario, Canada  5: 5 Département de Pédiatrie, Université de Montréal, Montréal, Québec, Canada; Source Info: Jun2013, Vol. 8 Issue 6, p1; Subject Term: ISOLATING mechanisms (Biology); Subject Term: GENE mapping; Subject Term: GENE targeting; Subject Term: POPULATION genetics; Subject Term: MUTATION (Biology); Subject Term: EPIDEMIOLOGY; Subject Term: QUEBEC (Province); Author-Supplied Keyword: Anthropology; Author-Supplied Keyword: Biology; Author-Supplied Keyword: Comparative genomics; Author-Supplied Keyword: Cultural anthropology; Author-Supplied Keyword: Epidemiology; Author-Supplied Keyword: Ethnic groups; Author-Supplied Keyword: Evolutionary biology; Author-Supplied Keyword: Gene flow; Author-Supplied Keyword: Gene pool; Author-Supplied Keyword: Genetic epidemiology; Author-Supplied Keyword: Genomics; Author-Supplied Keyword: Geographic and national differences; Author-Supplied Keyword: Geography; Author-Supplied Keyword: Haplotypes; Author-Supplied Keyword: Historical geography; Author-Supplied Keyword: Human geography; Author-Supplied Keyword: Population biology; Author-Supplied Keyword: Population genetics; Author-Supplied Keyword: Regional geography; Author-Supplied Keyword: Research Article; Author-Supplied Keyword: Settlement patterns; Number of Pages: 9p; Document Type: Article</m:note>},
 abstract = {For years, studies of founder populations and genetic isolates represented the mainstream of genetic mapping in the effort to target genetic defects causing Mendelian disorders. The genetic homogeneity of such populations as well as relatively homogeneous environmental exposures were also seen as primary advantages in studies of genetic susceptibility loci that underlie complex diseases. European colonization of the St-Lawrence Valley by a small number of settlers, mainly from France, resulted in a founder effect reflected by the appearance of a number of population-specific disease-causing mutations in Quebec. The purported genetic homogeneity of this population was recently challenged by genealogical and genetic analyses. We studied one of the contributing factors to genetic heterogeneity, early Native American admixture that was never investigated in this population before. Consistent admixture estimates, in the order of one per cent, were obtained from genome-wide autosomal data using the ADMIXTURE and HAPMIX software, as well as with the fastIBD software evaluating the degree of the identity-by-descent between Quebec individuals and Native American populations. These genomic results correlated well with the genealogical estimates. Correlations are imperfect most likely because of incomplete records of Native founders’ origin in genealogical data. Although the overall degree of admixture is modest, it contributed to the enrichment of the population diversity and to its demographic stratification. Because admixture greatly varies among regions of Quebec and among individuals, it could have significantly affected the homogeneity of the population, which is of importance in mapping studies, especially when rare genetic susceptibility variants are in play. [ABSTRACT FROM AUTHOR]},
 bibtype = {article},
 author = {Moreau, Claudia and Lefebvre, Jean-François and Jomphe, Michèle and Bhérer, Claude and Ruiz-Linares, Andres and Vézina, Hélène and Roy-Gagnon, Marie-Hélène and Labuda, Damian},
 journal = {PLoS ONE},
 number = {6}
}
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