Lewandowska Katarzyna B, Lechowicz Urszula, Roży Adriana, Falis Maria, Błasińska Katarzyna, Jakubowska Lilia, Franczuk Monika, Żołnowska Beata, Gryczka-Wróbel Justyna, Radwan-Rohrenschef Piotr, Lewandowska Anna, Witczak-Jankowska Olimpia, Sobiecka Małgorzata, Szturmowicz Monika, Tomkowski Witold Z
First Department of Lung Diseases, National Research Institute of Tuberculosis and Lung Diseases, Płocka 26, 01-138 Warsaw, Poland.
Department of Genetics and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Płocka 26, 01-138 Warsaw, Poland.
Int J Mol Sci. 2025 Feb 28;26(5):2218. doi: 10.3390/ijms26052218.
Idiopathic pulmonary fibrosis (IPF) is a rare disorder concerning elderly people, predominantly men, active or former smokers, with a progressive nature and leading to premature mortality. The cause of the disease is unknown. However, there are some risk factors, among which genetic predisposition plays a role. The aim of our single-centered observational study was to assess the correlation between single nucleotide polymorphism (SNP) of the gene (rs35705950) and the disease course, antifibrotic treatment effect, and survival in patients with IPF. A total of 93 patients entered the study, of whom 88 were treated with either nintedanib or pirfenidone. The GG genotype was found in 28 (30.1%) subjects, while the GT or TT genotypes were found in the remaining 65 (63.4%) and 6 (6.5%) patients, respectively. The T allele minor allele frequency (MAF) accounted for 38.2% of the whole group. Patients with different genotypes did not differ significantly regarding age, sex, pulmonary function tests' results, response to the antifibrotic treatment, or survival. However, we found a survival advantage in female patients and patients with higher pre-treatment TL,co. Treatment with antifibrotics significantly decreased the magnitude of FVC and TL,co decline compared to the time before treatment initiation, regardless of status. In conclusion, we found high prevalence of T allele of gene in patients with IPF; however, it showed no influence on disease trajectory, survival, or antifibrotic treatment effect in the presented cohort.
特发性肺纤维化（IPF）是一种多见于老年人（以男性为主，包括现吸烟者或既往吸烟者）的罕见疾病，具有进行性特点，可导致过早死亡。该病病因不明。然而，存在一些风险因素，其中遗传易感性起一定作用。我们单中心观察性研究的目的是评估基因（rs35705950）的单核苷酸多态性（SNP）与IPF患者的病程、抗纤维化治疗效果及生存率之间的相关性。共有93例患者进入研究，其中88例接受了尼达尼布或吡非尼酮治疗。28例（30.1%）受试者检测到GG基因型，其余65例（63.4%）和6例（6.5%）患者分别检测到GT或TT基因型。T等位基因的次要等位基因频率（MAF）占整个研究组的38.2%。不同基因型患者在年龄、性别、肺功能测试结果、抗纤维化治疗反应或生存率方面无显著差异。然而，我们发现女性患者和治疗前TL,co较高的患者具有生存优势。与治疗开始前相比，无论状态如何，抗纤维化治疗均显著降低了FVC和TL,co下降的幅度。总之，我们发现IPF患者中基因T等位基因的患病率较高；然而，在所研究队列中，它对疾病轨迹、生存率或抗纤维化治疗效果均无影响。
