现型广泛关联研究将儿童的支气管肺功能障碍与eosinophilia联系起来
Jelte Kelchtermans1,2,3, Michael E March4, Hakon Hakonarson5,4,6
1Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. kelchtermj@chop.edu.
Scientific reports
|September 13, 2024
概括
与支气管肺功能障碍症 (BPD) 相关的遗传变异也与乙素水平和喘有关,这表明2型炎症在BPD发展中的作用. 这一发现支持BPD和喘之间已知的流行病学联系.
科学领域:
- 遗传学 遗传学 是一个
- 肺部病理学 肺部病理学
- 免疫学 免疫学 免疫学
背景情况:
- 支气管肺功能障碍症 (BPD) 是早产的一个常见并发症.
- 双边障碍症的遗传基础在很大程度上是未知的.
- 了解遗传因素对于BPD的预防和治疗至关重要.
研究的目的:
- 调查以前与BPD相关的单核酸多态 (SNPs) 对其他表型的影响.
- 为了确定新的遗传关联和参与BPD病变的生物学途径.
- 探索BPD和其他呼吸道疾病之间的遗传联系.
主要方法:
- 利用了来自应用基因组学中心生物存储库的儿科队列.
- 分析了60种已知与BPD相关的SNP和2,146种被认为的表型之间的关联.
- 采用了甲基化数据,外部队列,并用于校证的in silico验证.
主要成果:
- 在一个大型的欧洲队列中,确定了rs3771150和rs3771171SNP之间的显著关联,以及中等氨酸细胞百分比.
- 在外部队列中复制了这些SNP-eosinophil协会.
- 发现这些SNP也与喘,COPD和FEV1/FVC比率有关,与ST2 (IL1RL1) 水平和2型炎症有关.
结论:
- 这些发现为BPD和喘之间的流行病学关联提供了遗传基础.
- 表明2型炎症在BPD的发病过程中可能发挥作用.
- 突出了ST2 (IL1RL1) 作为BPD和相关疾病的潜在治疗点.
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