Department of Human Genetics, University of Chicago, Chicago Illinois, United States of America.
Rho Inc., Durham, North Carolina, United States of America.
PLoS Genet. 2023 Jan 13;19(1):e1010594. doi: 10.1371/journal.pgen.1010594. eCollection 2023 Jan.
Impaired lung function in early life is associated with the subsequent development of chronic respiratory disease. Most genetic associations with lung function have been identified in adults of European descent and therefore may not represent those most relevant to pediatric populations and populations of different ancestries. In this study, we performed genome-wide association analyses of lung function in a multiethnic cohort of children (n = 1,035) living in low-income urban neighborhoods. We identified one novel locus at the TDRD9 gene in chromosome 14q32.33 associated with percent predicted forced expiratory volume in one second (FEV1) (p = 2.4x10-9; βz = -0.31, 95% CI = -0.41- -0.21). Mendelian randomization and mediation analyses revealed that this genetic effect on FEV1 was partially mediated by DNA methylation levels at this locus in airway epithelial cells, which were also associated with environmental tobacco smoke exposure (p = 0.015). Promoter-enhancer interactions in airway epithelial cells revealed chromatin interaction loops between FEV1-associated variants in TDRD9 and the promoter region of the PPP1R13B gene, a stimulator of p53-mediated apoptosis. Expression of PPP1R13B in airway epithelial cells was significantly associated the FEV1 risk alleles (p = 1.3x10-5; β = 0.12, 95% CI = 0.06-0.17). These combined results highlight a potential novel mechanism for reduced lung function in urban youth resulting from both genetics and smoking exposure.
儿童早期肺功能受损与随后慢性呼吸道疾病的发展有关。大多数与肺功能相关的遗传关联都是在欧洲血统的成年人中发现的,因此可能无法代表与儿科人群和不同祖裔人群最相关的关联。在这项研究中,我们对生活在低收入城市社区的多民族儿童(n=1035)进行了肺功能全基因组关联分析。我们在 14q32.33 染色体上的 TDRD9 基因中发现了一个与一秒用力呼气量(FEV1)的预测百分比相关的新位点(p=2.4x10-9;βz=-0.31,95%CI=-0.41- -0.21)。孟德尔随机化和中介分析表明,这种对 FEV1 的遗传影响部分是由该基因座上气道上皮细胞的 DNA 甲基化水平介导的,而 DNA 甲基化水平也与环境烟草烟雾暴露有关(p=0.015)。气道上皮细胞中的启动子-增强子相互作用揭示了 TDRD9 中与 FEV1 相关的变异与 PPP1R13B 基因启动子区域之间的染色质相互作用环,该基因是 p53 介导的细胞凋亡的刺激物。气道上皮细胞中 PPP1R13B 的表达与 FEV1 风险等位基因显著相关(p=1.3x10-5;β=0.12,95%CI=0.06-0.17)。这些综合结果突出了一个潜在的新机制,即遗传和吸烟暴露都会导致城市青年肺功能下降。