Abstract: Idiopathic pulmonary fibrosis is an etiologically complex interstitial lung disease characterized by progressive scarring of the lungs with a subsequent decline in lung function. While much of the pathogenesis of IPF still remains unclear, it is now understood that genetic variation accounts for at least one-third of the risk of developing the disease. The single-most validated and most significant risk factor, genetic or otherwise, is a gain-of-function promoter variant in the MUC5B gene. While the functional impact of these IPF risk variants at the cellular and tissue levels are areas of active investigation, there is a growing body of evidence that these genetic variants may influence disease pathogenesis through modulation of innate immune processes.

Keywords: pulmonary fibrosis, interstitial lung disease, genetics, MUC5B, host defense, innate immunity


中文翻译：

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特发性肺纤维化的遗传危险因素：免疫发病机制的见解


摘要：特发性肺纤维化是一种病因复杂的间质性肺疾病，其特征是肺部进行性疤痕形成，随后肺功能下降。虽然 IPF 的大部分发病机制仍不清楚，但目前已知遗传变异至少占该病患病风险的三分之一。最有效、最重要的风险因素（无论是遗传因素还是其他因素）是MUC5B基因中的功能获得性启动子变体。虽然这些 IPF 风险变异在细胞和组织水平上的功能影响是积极研究的领域，但越来越多的证据表明这些遗传变异可能通过调节先天免疫过程影响疾病的发病机制。


关键词:肺纤维化, 间质性肺疾病, 遗传学, MUC5B, 宿主防御, 先天免疫