Native American admixture in the Quebec founder population

PLoS One. 2013 Jun 12;8(6):e65507. doi: 10.1371/journal.pone.0065507. Print 2013.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Founder Effect
  • Genetic Variation*
  • Genetics, Population*
  • HapMap Project
  • Humans
  • Indians, North American / genetics*
  • Linkage Disequilibrium
  • Quebec
  • White People / genetics*

Grants and funding

This research was supported by Réseau de Médecine Génétique Appliquée of Fonds de Recherche en Santé du Québec (FRSQ) (HV and DL) and by FRSQ grant (MHRG). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.