Department of Medical Microbiology & Immunology, Faculty of Medicine, Benha University, Egypt.
Department of Chest Diseases & Tuberculosis, Faculty of Medicine, Benha University, Egypt.
Egypt J Immunol. 2022 Oct;29(4):25-32.
Asthma is a common chronic inflammatory condition with a highly complex genetic predisposition and environmental factors which play an important role in its development. Polymorphism in FOXO3a transcription factor has been linked to a number of inflammatory and respiratory diseases such as bronchiolitis and idiopathic pulmonary fibrosis suggesting that it may be implicated in the pathogenesis of asthma. This study aimed to investigate FOXO3a SNP (rs13217795) association with bronchial asthma and its degree of severity in adult Egyptian population. This case control study included 60 asthmatic patients and 40 apparently healthy controls. Peripheral blood samples were collected from all participants. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The study revealed high frequency of the mutant TT genotype of FOXO3a gene in asthma patients (51.7%) than controls (12.5%) with OR= 7.48 & 95% CI (2.58-21.71) (P˂0.05) and in severe cases (41.9%) compared to mild and moderate cases (25.8% and12.5%, respectively). T allele frequency showed significant statistical association with asthma, OR= 12.40, 95% CI (5.65-27.19) (P˂0.05). However, there was no association between T allele and disease severity. The high frequency of the mutant TT genotype among patients and sever cases may indicates that FOXO3a rs13217795 C>T single nucleotide polymorphism can be considered as a risk factor in development and severity of asthma.
哮喘是一种常见的慢性炎症性疾病,具有高度复杂的遗传易感性和环境因素,这些因素在其发病机制中起着重要作用。FOXO3a 转录因子的多态性与许多炎症和呼吸系统疾病有关,如细支气管炎和特发性肺纤维化,这表明它可能与哮喘的发病机制有关。本研究旨在探讨 FOXO3a SNP(rs13217795)与埃及成人支气管哮喘及其严重程度的相关性。这项病例对照研究包括 60 名哮喘患者和 40 名健康对照者。所有参与者均采集外周血样本。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行基因分型。研究结果显示,哮喘患者 FOXO3a 基因的突变 TT 基因型频率(51.7%)高于对照组(12.5%)(OR=7.48,95%CI(2.58-21.71),P˂0.05),且在重度病例(41.9%)中高于轻度和中度病例(分别为 25.8%和 12.5%)。T 等位基因频率与哮喘有显著的统计学相关性,OR=12.40,95%CI(5.65-27.19),P˂0.05)。然而,T 等位基因与疾病严重程度之间没有相关性。患者和重度病例中突变 TT 基因型的高频率可能表明,FOXO3a rs13217795 C>T 单核苷酸多态性可被视为哮喘发生和严重程度的危险因素。