McClelland Peyton, Femerling Georgette, Laflamme Rose, Mejia-Garcia Alejandro, Dehkordi Mohadese Sayahian, Xiao Hongyu, Diaz-Papkovich Alex, Pelletier Justin, Grenier Jean-Christophe, Lo Ken Sin, Anderson-Trocmé Luke, Bellavance Justin, Chapdelaine Vincent, Gagnon Geneviève, Mori Annelie De, Martinez Gerardo, Mohler Kristen, de Malliard Thibault, Labbé Catherine, Labrecque Marjorie, Montpetit Alexandre, Spiegelman Dan, Rouleau Guy A, Théroux Jean-François, Zhou Hufeng, Girard Simon L, Hussin Julie G, Laberge Anne-Marie, Bhérer Claude, Tetreault Martine, Gagliano Taliun Sarah A, Taliun Daniel, Gravel Simon, Lettre Guillaume
Department of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Department of Human Genetics, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
medRxiv. 2025 May 16:2025.05.14.25327536. doi: 10.1101/2025.05.14.25327536.
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 individual Mendelian diseases in founder sub-populations. Here, we profiled and analyzed genome-wide genotyped variation in 29,337 Quebec residents from the large population-based cohort CARTaGENE (CaG), including rich phenotype and environmental data. We also sequenced the whole-genome of 2,173 CaG participants, including 163 and 132 individuals with grandparents born in Haiti and Morocco, respectively. 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. We built an imputation panel by phasing the CaG whole-genome sequence data and showed, using genome-wide association studies (GWAS), how it improves the discovery of phenotype-genotype associations in this population. We provide allele frequency information and GWAS results through dedicated and publicly available websites. The genetic data, paired with phenotypic and environmental information, is also available for research use upon scientific and ethical review.
虽然国际上的努力已经对数百万人的基因变异进行了特征描述，但对于全球大多数人群来说，环境、社会、文化和基因因素之间的相互作用仍知之甚少。加拿大魁北克省一直是众多基因研究的地点，这些研究通常聚焦于创始亚群中的单基因疾病。在这里，我们对来自基于人群的大型队列CARTaGENE（CaG）的29337名魁北克居民的全基因组基因分型变异进行了分析，其中包括丰富的表型和环境数据。我们还对2173名CaG参与者进行了全基因组测序，其中分别有163人和132人的祖父母出生在海地和摩洛哥。我们利用这些基因信息来深入了解魁北克的人口统计学，并帮助解释在临床重要基因中鉴定出的变异的潜在意义。我们通过对CaG全基因组序列数据进行定相构建了一个插补面板，并使用全基因组关联研究（GWAS）展示了它如何改善该人群中表型-基因型关联的发现。我们通过专门的公开网站提供等位基因频率信息和GWAS结果。经过科学和伦理审查后，这些基因数据以及配对的表型和环境信息也可供研究使用。
