Liu Jiahao, Yi Zihan, Chen Ting, Ying Yinghua, Hu Yue
Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang, China.
Department of Endoscopy Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang, China.
Int J Med Sci. 2025 Jun 12;22(12):2992-3006. doi: 10.7150/ijms.113226. eCollection 2025.
Idiopathic pulmonary fibrosis (IPF), a chronic progressive fibrosing interstitial lung disease with an unclear etiology, is characterized by progressive respiratory impairment and a median survival of 3-5 years. The pathophysiology associated with genetic factors in IPF remains largely unknown, despite the fact that both familial and sporadic IPF exhibit genetic susceptibility. In this review, we comprehensively examine genetic variations associated with the functional roles of mucin 5B (MUC5B), telomerase complex, surfactant proteins, cytokines, signaling pathways, and epigenetic mechanisms. A multifaceted perspective derived from genetic, epidemiological, and clinical studies demonstrates that genetic variations exert differential impacts on the development, progression, and prognosis of IPF. We advocate for the application of genetic knowledge to facilitate the refinement of diagnostic approaches, enhance the assessment of therapeutic strategies and prognostic outcomes, and underscore the significance of personalized therapy for IPF.
特发性肺纤维化（IPF）是一种病因不明的慢性进行性纤维化间质性肺疾病，其特征为进行性呼吸功能损害，中位生存期为3至5年。尽管家族性和散发性IPF均表现出遗传易感性，但与IPF遗传因素相关的病理生理学仍 largely unknown。在本综述中，我们全面研究了与黏蛋白5B（MUC5B）、端粒酶复合物、表面活性蛋白、细胞因子、信号通路和表观遗传机制的功能作用相关的基因变异。来自遗传、流行病学和临床研究的多方面观点表明，基因变异对IPF的发生、发展和预后产生不同影响。我们主张应用遗传知识来促进诊断方法的完善，加强对治疗策略和预后结果的评估，并强调IPF个性化治疗的重要性。
