A multi-ancestry genetic reference for the Quebec population
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.
Authors
- Claude Bhérer (ORCID: https://orcid.org/0000-0002-2744-7246)
- Marjorie Labrecque (ORCID: https://orcid.org/0000-0002-6150-4144)
- Thibault de Malliard
- Justin Pelletier (ORCID: https://orcid.org/0000-0001-7324-5226)
- Gerardo Sánchez Martínez (ORCID: https://orcid.org/0000-0002-3290-6195)
- Hyejin Lee (ORCID: https://orcid.org/0000-0001-8917-2842)
- Vincent Chapdelaine (ORCID: https://orcid.org/0000-0002-0299-8754)
- Catherine Labbé (ORCID: https://orcid.org/0000-0002-6058-9684)
- Jean‐François Théroux
- Georgette Femerling (ORCID: https://orcid.org/0000-0001-6543-3155)
- Luke Anderson-Trocmé (ORCID: https://orcid.org/0000-0001-9187-2792)
- Dan Spiegelman (ORCID: https://orcid.org/0000-0003-4971-8868)
- Simon Girard (ORCID: https://orcid.org/0000-0002-4089-2280)
- Geneviève Gagnon (ORCID: https://orcid.org/0009-0003-5747-7918)
- Alex Diaz-Papkovich (ORCID: https://orcid.org/0000-0002-2867-5494)
- Peyton McClelland (ORCID: https://orcid.org/0009-0009-7671-8506)
- Rose Laflamme
- M.H. Tetreault
- Kristen Mohler
- Mohadese Sayahian Dehkordi
- Daniel Taliun
- Justin Bellavance
- Julie G. Hussin
- Simon Gravel
- Hongyu Xiao
- Anne-Marie Laberge
- Alejandro Mejia-Garcia
- Jean-Christophe Grenier
- Alexandre Montpetit
- Hufeng Zhou
- Guy A. Rouleau
- Annelie De Mori
- Guillaume Lettre
Institutions
- Université du Québec à Chicoutimi (CA)
- Montreal Neurological Institute and Hospital (CA)
- Harvard University (US)
- Brown University (US)
- Montreal Heart Institute (CA)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Genome Canada (CA)
- McGill Genome Centre (CA)
- Centre Hospitalier de l’Université de Montréal (CA)
- Mila - Quebec Artificial Intelligence Institute (CA)
- Université Laval (CA)
- Génome Québec
- Université de Montréal (CA)
Publication Details
- Journal
- Nature Communications
- Published
- 2026-02-03
- DOI
- https://doi.org/10.1038/s41467-026-68820-7
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 23.21
Funders
- Genome Canada
- Alzheimer Society
- Fondation Institut de Cardiologie de Montréal
- Institut de Cardiologie de Montréal
- Alliance de recherche numérique du Canada
- Partenariat Canadien Contre Le Cancer
- Courtois Foundation
- National Institutes of Health
- Alzheimer Society Research Program
- Health Canada
- Canadian Institutes of Health Research
- Natural Sciences and Engineering Research Council of Canada
- Fonds de Recherche du Québec - Santé