阿司匹林加剧的呼吸道疾病与费拉格林,上皮完整性和细胞相互作用的变异有关
Elina Jerschow1,2, Robert Dubin2, Chien-Chang Chen1
1Mayo Clinic, Rochester, Minn.
The journal of allergy and clinical immunology. Global
|February 6, 2024
概括
整体外基因组测序确定了阿司匹林恶化呼吸道疾病 (AERD) 的遗传变异. 在5%的患者中发现了致病性 filaggrin 基因变异,这表明与 AERD.有遗传联系.
科学领域:
- 遗传学 是一个遗传学.
- 呼吸系统医学 呼吸系统医学
- 免疫学 免疫学 免疫学
背景情况:
- 阿司匹林加重的呼吸道疾病 (AERD) 显示出家族联系,多达6%的患者报告了家族病史.
- 遗传多态性被怀疑是AERD的贡献者,但缺乏整个外体序列 (WES) 研究.
研究的目的:
- 研究整个外体序列 (WES) 在识别与AERD相关的致病性遗传变异中的实用性.
- 探索AERD的潜在遗传基础,超出已知的家族倾向.
主要方法:
- 对39名被诊断患有AERD (喘和鼻) 的患者进行了整体外组测序 (WES).
- 人类表现型本体学术语用于表现型定义.
- 使用Exomiser软件进行了变体注释,过和优先排序.
主要成果:
- 在5%的AERD患者中发现了 filaggrin基因 (FLG) 的致病变体.
- 在41%的患者中发现了与上皮完整性和细胞相互作用相关的基因的额外变异 (例如,DSG3,DNAH9,COL7A1,COL17A1,CHD7,TSC2,SELP,PDGFRA).
- 41%的患者报告了家庭喘病史,5%的患者报告了家庭AERD病史.
结论:
- 整体外基因组测序 (WES) 显示,在5%的病例中,由于FLG变异,对AERD具有单一的敏感性.
- 影响表皮完整性和细胞相互作用的基因中的未确定的致病变体可能会导致AERD病原体.
- 对这些遗传因素的进一步研究是有必要的,以了解AERD病因.
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