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鉴定IFRD1作为囊性纤维化肺病的修饰基因

YuanYuan Gu¹, Isaac T W Harley, Lindsay B Henderson

¹Division of Molecular Immunology, Cincinnati Children's Hospital Research Foundation and the University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

|February 27, 2009

概括

基因分析确定IFRD1是影响囊性纤维化肺部疾病严重程度的关键因素. 该基因调节中性粒细胞的功能,影响患者的疾病进展和炎症.

科学领域:

遗传学是一个遗传学.
免疫学免疫学免疫学
肺部病理学肺部病理学

背景情况:

肺部疾病是囊性纤维化 (CF) 中的主要死亡原因,这是一种遗传性疾病.
肺部CF疾病的严重程度表明遗传性独立于CFTR突变.
慢性中性友好性炎症在CF中驱动着渐进的气道损伤.

研究的目的:

为了确定囊性纤维化肺部疾病严重程度的遗传修饰剂.
调查IFRD1在CF病变发生过程中的作用.

主要方法:

在CF患者中进行全基因组单核酸多态性 (SNP) 扫描.
在一个独立的队列中复制顶级遗传候选人.
在IFRd1缺乏的小鼠和人类受试者的功能研究.

主要成果:

IFRD1被确定为CF肺部疾病严重程度的修饰剂.
在小鼠中Ifrd1缺乏会损害中性粒细胞功能和细菌清除,但会减少炎症.
人类IFRD1多态性与中性粒细胞功能变异相关.

结论:

IFRD1通过调节中性粒细胞效应因子的功能来调节CF肺部疾病的病原性.
准IFRD1可能为CF肺部疾病提供治疗策略.

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