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摩洛哥人群中MUC5B基因多态性与特发性肺纤维化易感性的关系

MUC5B Polymorphism and Susceptibility to Idiopathic Pulmonary Fibrosis in Morocco.

作者信息

Senhaji Lamiyae, Abbassi Meriame, Senhaji Nadia, Benmaamar Soumaya, Dani Lamyae, El Rhazi Karima, Karhate Meryem, Serraj Mounia, El Biaze Mohamed, Benjelloun Mohammed Chakib, Ouldim Karim, Bouguenouch Laila, Amara Bouchra

机构信息

Department of Pulmonology, Hassan II University Hospital Center, Fez, MAR.

Epidemiology and Research in Health Science Laboratory, Faculty of Medicine, Pharmacy, and Dental Medicine, Sidi Mohamed Ben Abdellah University, Fez, MAR.

出版信息

Cureus. 2025 Jun 26;17(6):e86806. doi: 10.7759/cureus.86806. eCollection 2025 Jun.

Abstract

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disease of unknown etiology. It has been demonstrated in European, American, and Asian populations that genetic factors, particularly the MUC5B rs35705950 SNP, represent a significant risk factor for the development of this disease. To date, no studies have been performed within African populations, thereby necessitating the execution of the present investigation. Methods A case-control study was conducted from September 2021 to May 2024. It included 55 patients diagnosed with IPF and 61 control subjects. Comprehensive demographic, clinical, radiological, functional, and therapeutic data were collected. Additionally, genetic analysis for the MUC5B rs35705950 SNP was carried out in the genetic department of the University Hospital Hassan II of Fez (Morocco). Results The patient cohort predominantly consisted of men, with a sex ratio of 49 men to six women. The mean age was 67.72 ± 6.406 years. Of the subjects, 58.2% were former smokers. Dyspnea was the most prevalent symptom (89.1%). Radiological assessments revealed that 70.9% of patients exhibited definite usual interstitial pneumonia. The median survival time was recorded at 4.75 years. Statistical analysis indicated a significant association between the MUC5B rs35705950 SNP and IPF (p = 0.0001). Conclusions This study confirms that the MUC5B rs35705950 SNP is a major risk factor for IPF within the African population. It represents the first investigation of its kind on the African continent, with the hope that it will motivate further research efforts in Africa to yield more representative data.

摘要

特发性肺纤维化(IPF)是一种病因不明的慢性进行性间质性肺疾病。在欧洲、美洲和亚洲人群中已证实,遗传因素,尤其是MUC5B rs35705950单核苷酸多态性(SNP),是该疾病发生的重要危险因素。迄今为止,尚未在非洲人群中开展相关研究,因此有必要进行本项调查。方法 于2021年9月至2024年5月开展了一项病例对照研究。研究纳入了55例确诊为IPF的患者和61例对照受试者。收集了全面的人口统计学、临床、放射学、功能和治疗数据。此外,在摩洛哥非斯哈桑二世大学医院的遗传学科室对MUC5B rs35705950 SNP进行了基因分析。结果 患者队列主要为男性,男女比例为49∶6。平均年龄为67.72±6.406岁。受试者中,58.2%为既往吸烟者。呼吸困难是最常见的症状(89.1%)。放射学评估显示,70.9%的患者表现为明确的普通型间质性肺炎。中位生存时间为4.75年。统计分析表明,MUC5B rs35705950 SNP与IPF之间存在显著关联(p = 0.0001)。结论 本研究证实,MUC5B rs35705950 SNP是非洲人群中IPF的主要危险因素。这是非洲大陆首次开展此类研究,希望能促使非洲开展更多研究以获得更具代表性的数据。

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