Morin Andréanne, Laviolette Michel, Pastinen Tomi, Boulet Louis-Philippe, Laprise Catherine
Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, 740 Dr. Penfield Avenue, Montréal, Québec H3A 1A5 Canada.
Département des sciences fondamentales, Université du Québec à Chicoutimi, 555 boulevard de l'Université, Saguenay, Québec G7H 2B1 Canada.
Clin Epigenetics. 2017 Jan 18;9:3. doi: 10.1186/s13148-017-0310-1. eCollection 2017.
Allergic rhinitis is a common chronic disorder characterized by immunoglobulin E-mediated inflammation. To identify new genes associated with this trait, we performed genome- and epigenome-wide association studies and linked marginally significant CpGs located in genes or its promoter and SNPs located 1 Mb from the CpGs, by identifying methylation quantitative trait loci (mQTL). This approach relies on functional cellular aspects rather than stringent statistical correction. We were able to identify one gene with significant -mQTL for allergic rhinitis, caudal-type homeobox 1 (). We also identified 11 genes with marginally significant -mQTLs ( < 0.05) including one with both allergic rhinitis with or without asthma (). Moreover, most SNPs identified were not located closest to the gene they were linked to through -mQTLs counting the one linked to located in a gene previously associated with asthma and atopic dermatitis. By combining omics data, we were able to identify new genes associated with allergic rhinitis and better assess the genes linked to associated SNPs.
变应性鼻炎是一种常见的慢性疾病，其特征为免疫球蛋白E介导的炎症。为了鉴定与该性状相关的新基因，我们进行了全基因组和表观基因组关联研究，并通过鉴定甲基化数量性状位点（mQTL），将位于基因或其启动子中的边缘显著CpG与位于距CpG 1 Mb处的单核苷酸多态性（SNP）联系起来。这种方法依赖于细胞功能方面，而非严格的统计校正。我们能够鉴定出一个与变应性鼻炎具有显著mQTL的基因，即尾型同源盒1（Cdx1）。我们还鉴定出11个具有边缘显著mQTL（P<0.05）的基因，其中一个基因与伴或不伴哮喘的变应性鼻炎均相关（ADAM17）。此外，通过mQTL鉴定出的大多数SNP并非最靠近与其相连的基因，例如与位于先前与哮喘和特应性皮炎相关基因中的Cdx1相连的那个SNP。通过整合组学数据，我们能够鉴定出与变应性鼻炎相关的新基因，并更好地评估与相关SNP相连的基因。
