儿童急性中耳炎的全基因组关联研究确定FNDC1为致病基因。
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.
作者信息
van Ingen Gijs, Li Jin, Goedegebure André, Pandey Rahul, Li Yun Rose, March Michael E, Jaddoe Vincent W V, Bakay Marina, Mentch Frank D, Thomas Kelly, Wei Zhi, Chang Xiao, Hain Heather S, Uitterlinden André G, Moll Henriette A, van Duijn Cornelia M, Rivadeneira Fernando, Raat Hein, Baatenburg de Jong Robert J, Sleiman Patrick M, van der Schroeff Marc P, Hakonarson Hakon
机构信息
Department of Otolaryngology, Head and Neck Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
出版信息
Nat Commun. 2016 Sep 28;7:12792. doi: 10.1038/ncomms12792.
Acute otitis media (AOM) is among the most common pediatric diseases, and the most frequent reason for antibiotic treatment in children. Risk of AOM is dependent on environmental and host factors, as well as a significant genetic component. We identify genome-wide significance at a locus on 6q25.3 (rs2932989, P=2.15 × 10), and show that the associated variants are correlated with the methylation status of the FNDC1 gene (cg05678571, P=1.43 × 10), and further show it is an eQTL for FNDC1 (P=9.3 × 10). The mouse homologue, Fndc1, is expressed in middle ear tissue and its expression is upregulated upon lipopolysaccharide treatment. In this first GWAS of AOM and the largest OM genetic study to date, we identify the first genome-wide significant locus associated with AOM.
急性中耳炎（AOM）是最常见的儿科疾病之一，也是儿童抗生素治疗最常见的原因。AOM的风险取决于环境和宿主因素，以及显著的遗传因素。我们在6q25.3位点发现全基因组显著性（rs2932989，P = 2.15×10），并表明相关变异与FNDC1基因的甲基化状态相关（cg05678571，P = 1.43×10），进一步表明它是FNDC1的一个表达定量性状位点（P = 9.3×10）。小鼠同源基因Fndc1在中耳组织中表达，其表达在脂多糖处理后上调。在这项首次关于AOM的全基因组关联研究以及迄今为止最大的中耳炎遗传学研究中，我们确定了第一个与AOM相关的全基因组显著性位点。
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