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<p>While international efforts have characterized genetic variation in millions of individuals, the interplay of environmental, social, cultural and genetic factors is poorly understood for most worldwide populations. The province of Quebec in Canada has been the site of numerous genetic studies, often focusing on Mendelian diseases in founder sub-populations. Here, we analyze genome-wide genotyped variation in 29,337 Quebec residents from the multi-ancestry population-based cohort CARTaGENE (CaG) who provided DNA samples. We also sequence the whole-genome of 2,173 CaG participants with four grandparents born in Canada (<i>n</i> = 1879), Haiti (<i>n</i> = 163) and Morocco (<i>n</i> = 131). We use this genetic information to gain insight into Quebec’s demography and to help interpret the potential significance of variants identified in clinically important genes (e.g., <i>SPG7</i> implicated in hereditary spastic paraplegia). We validate an imputation panel constructed by phasing the CaG whole-genome sequence data and find, using genome-wide association studies (GWAS) of 42 clinically relevant traits, that it increases the number of associated loci by ~7% when compared to results obtained after imputation with the larger TOPMed imputation panel. We provide allele frequency information and GWAS results through dedicated and publicly available websites. The genetic data, paired with phenotypic and environmental information, is available for global research use.</p>

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A multi-ancestry genetic reference for the Quebec population

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月3日

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  • Peyton McClelland,
  • Georgette Femerling,
  • Rose Laflamme,
  • Alejandro Mejia-Garcia,
  • Mohadese Sayahian Dehkordi,
  • Hongyu Xiao,
  • Alex Diaz-Papkovich,
  • Justin Pelletier,
  • Jean-Christophe Grenier,
  • Ken Sin Lo,
  • Luke Anderson-Trocmé,
  • Justin Bellavance,
  • Vincent Chapdelaine,
  • Geneviève Gagnon,
  • Annelie De Mori,
  • Gerardo Martinez,
  • Kristen Mohler,
  • Thibault de Malliard,
  • Catherine Labbé,
  • Marjorie Labrecque,
  • Alexandre Montpetit,
  • Dan Spiegelman,
  • Guy A. Rouleau,
  • Jean-François Théroux,
  • Hufeng Zhou,
  • Simon L. Girard,
  • Julie G. Hussin,
  • Anne-Marie Laberge,
  • Claude Bhérer,
  • Martine Tetreault,
  • Sarah A. Gagliano Taliun,
  • Daniel Taliun,
  • Simon Gravel,
  • Guillaume Lettre

摘要

While international efforts have characterized genetic variation in millions of individuals, the interplay of environmental, social, cultural and genetic factors is poorly understood for most worldwide populations. The province of Quebec in Canada has been the site of numerous genetic studies, often focusing on Mendelian diseases in founder sub-populations. Here, we analyze genome-wide genotyped variation in 29,337 Quebec residents from the multi-ancestry population-based cohort CARTaGENE (CaG) who provided DNA samples. We also sequence the whole-genome of 2,173 CaG participants with four grandparents born in Canada (n = 1879), Haiti (n = 163) and Morocco (n = 131). We use this genetic information to gain insight into Quebec’s demography and to help interpret the potential significance of variants identified in clinically important genes (e.g., SPG7 implicated in hereditary spastic paraplegia). We validate an imputation panel constructed by phasing the CaG whole-genome sequence data and find, using genome-wide association studies (GWAS) of 42 clinically relevant traits, that it increases the number of associated loci by ~7% when compared to results obtained after imputation with the larger TOPMed imputation panel. We provide allele frequency information and GWAS results through dedicated and publicly available websites. The genetic data, paired with phenotypic and environmental information, is available for global research use.