FOXO3a基因多态性与埃及儿童支气管哮喘的关系

Niha Elrifai, Hanan A. Al-Wakeel, H. Osman, Rania El Taweel
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引用次数: 6

摘要

背景:FOXO3a蛋白在免疫反应中起着多种关键作用。FOXO3抑制T细胞增殖,通过上调促凋亡蛋白诱导T细胞凋亡,并抑制T细胞活化,阻止自身免疫。FOXO3a基因在支气管哮喘发病机制中的作用已在少数民族中进行了研究,并揭示了其在哮喘发病机制方面的意义。目的:本研究的目的是检测FOXO3a基因(rs13217795)单核苷酸多态性与埃及儿童支气管哮喘、特应性和哮喘严重程度之间的关系。方法:对开罗大学儿童医院肺科门诊随访的75名2至12岁哮喘儿童和75名年龄和性别匹配的健康对照进行横断面病例对照研究。除了使用PCR-RFLP技术对FOXO3a基因多态性进行基因分型外,还对候选者进行临床评估。结果:在病例组和对照组中,杂合子型CT的发生率最高。突变型TT病例和对照组的基因型频率分别为12%和16%,T等位基因频率分别为37.2%和46.7%,CC基因型在哮喘患者和对照组中分别为37.3%和22.6%,C等位基因在病例和对照中分别为62.8%和53.3%。FOXO3a基因多态性的不同基因型在哮喘患者和对照组之间没有观察到统计学上的显著差异(p=0.161)埃及哮喘儿童的基因多态性(rs13217795)显示,病例和对照组TT基因型突变频率较低。在目前的研究中,FOXO3a多态性在哮喘或特应性的发病机制中没有作用。此外,它与疾病的严重程度无关。关键词:哮喘,FOXO3a,基因,儿童,埃及,多态性
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FOXO3a gene polymorphism and bronchial asthma in Egyptian children
Background: FOXO3a proteins play multiple crucial roles in immune response. FOXO3 inhibits T cell proliferation, induces T cell apoptosis via upregulation of proapoptotic proteins and it suppresses T cell activation preventing autoimmunity. The role of FOXO3a gene in the pathogenesis of bronchial asthma has been studied in few ethnic groups and revealed its implication in asthma pathogenesis. Objectives: The aim of the current study is to detect the association between single nucleotide polymorphism of the FOXO3a gene (rs13217795) and bronchial asthma, atopy and asthma severity in Egyptian children. Methods: The current cross-sectional case-control study was performed on 75 asthmatic children aged 2 to 12 years following up in the pulmonology outpatient clinic in Children's hospital, Cairo University and 75 age and sex matched healthy controls. Candidates were subjected to clinical evaluation in addition to genotyping for the FOXO3a gene polymorphism using PCR-RFLP technique. Results: The highest frequency was for the heterozygous type CT in both cases and controls groups. The genotype frequencies of mutant type TT for cases and controls were 12 % and 16% respectively, and the T allele frequencies were 37.2% in cases and 46.7% in the control group while CC genotype was present in 37.3% of asthmatic patients and 22.6% in the controls and the C allele was detected in 62.8% and 53.3% for cases and controls respectively. No statistically significant differences were observed between asthmatic patients and controls regarding the different genotypes of the FOXO3a gene polymorphism (p=0.161). No significant association was detected between the different genotypes of the FOXO3a gene polymorphism and the atopic status (p=0.536) or the different grades of asthma severity (p= 0.545). Conclusions: The study of FOXO3a gene polymorphism (rs13217795) in asthmatic Egyptian children revealed low frequency of the mutant TT genotype among cases and controls. In the current study, FOXO3a polymorphism has no role in the pathogenesis of asthma or atopy. Moreover, it has no relation to degree of disease severity. Keywords: Asthma, FOXO3a, gene, children, Egyptian, polymorphism
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