Channing Division of Network Medicine.
Division of Rheumatology, Immunology and Allergy.
Pharmacogenet Genomics. 2019 Apr;29(3):65-68. doi: 10.1097/FPC.0000000000000366.
Asthma is the most common chronic disease in children. Inhaled corticosteroids (ICS) are the first-line treatment for asthma control, but up to one-third of children have a poor treatment response. The mechanism of ICS resistance is poorly understood, and the role of DNA methylation in ICS treatment response is not known. We examined the association between peripheral blood DNA methylation and ICS treatment response in 152 pediatric persistent asthmatics from the Childhood Asthma Management Program. Response to ICS was measured by the percentage change in forced expiratory volume in 1 s (FEV1) 8 weeks after treatment initiation. The top CpG sites with a nominal P value less than 0.001 were correlated with gene expression using Pearson's and partial correlations. In 152 participants, mean±SD age was 9.8±2.0 years and median change in FEV1 after ICS initiation was 4.6% (interquartile range: 10.4%). A total of 545 CpG sites were differentially methylated (nominal P<0.05), and seven CpG sites had a nominal P value less than 0.001. Relative hypermethylation of cg20434811, cg02822723, cg14066280, cg27254601, and cg23913400 and relative hypomethylation of cg24937126 and cg24711626 were associated with an increase in FEV1 on ICS treatment. One CpG site was associated with gene expression. Relative hypermethylation of cg27254601 was associated with both an increase in FEV1 and BOLA2 expression (ρ=0.25, P=0.02). We identified a novel association between BOLA2 methylation, gene expression, and ICS response as measured by lung function. Pharmacoepigenetics has the potential to detect treatment sensitivity in persistent childhood asthma.
哮喘是儿童最常见的慢性疾病。吸入性皮质类固醇(ICS)是控制哮喘的一线治疗方法,但多达三分之一的儿童对治疗反应不佳。ICS 耐药的机制尚不清楚,DNA 甲基化在 ICS 治疗反应中的作用也不清楚。我们在儿童哮喘管理计划(Childhood Asthma Management Program)中检查了 152 名持续性哮喘儿童的外周血 DNA 甲基化与 ICS 治疗反应之间的关系。ICS 治疗反应通过治疗开始后 8 周时用力呼气量(FEV1)的百分比变化来衡量。使用 Pearson 和偏相关,将具有名义 P 值小于 0.001 的前 CpG 位点与基因表达相关联。在 152 名参与者中,平均年龄±标准差为 9.8±2.0 岁,ICS 启动后 FEV1 的中位数变化为 4.6%(四分位距:10.4%)。共有 545 个 CpG 位点发生差异甲基化(名义 P<0.05),7 个 CpG 位点的名义 P 值小于 0.001。cg20434811、cg02822723、cg14066280、cg27254601 和 cg23913400 的相对过甲基化和 cg24937126 和 cg24711626 的相对低甲基化与 ICS 治疗后 FEV1 的增加相关。一个 CpG 位点与基因表达相关。cg27254601 的相对过甲基化与 FEV1 和 BOLA2 表达的增加均相关(ρ=0.25,P=0.02)。我们发现了一种新的关联,即 BOLA2 甲基化、基因表达与肺功能测量的 ICS 反应之间的关联。药物遗传学有可能检测到持续性儿童哮喘的治疗敏感性。