Shirkani Afshin, Mansouri Atena, Farid Hosseini Reza, Jabbari Azad Farahzad, Alsadat Mahmoudian Reihaneh, Montazer Mehdi, Samimi Abdolreza, Momtazi-Borojeni Amir Abbas, Abbaszadegan Mohammad Reza, Gholamin Mehran
Allergy and Clinical immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr. Iran.
Nanotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
Rep Biochem Mol Biol. 2019 Jul;8(2):111-118.
Allergic Rhinitis (AR) is an IgE-mediated inflammatory disorder with high morbidity rates. The eitiology of this disease is understood to occur from a complex interaction between genetic and environmental factors. T helper type 2 cells have been shown to have a crucial role in atopic disease due to their production of the cytokines, intelukin and , involved in inflammation. Research has shown single nucleotide polymorphisms (SNP) of the and genes to be associated increased levels of IgE and with allergic diseases such as, allergic rhinitis, asthma, and atopic dermatitis. Specifically, the rs2243250 SNP of IL-4 and the rs20541 SNP of have been shown to be associated with AR.
A case-control study was designed to investigate the relationship between the two SNPs rs2243250 and rs20541 with the incidence of AR. The SNPs were examined in patients with AR and healthy controls (86 patients and 86 controls). Blood samples were collected and DNA was extracted to evaluate the SNPs by RFLP-PCR.
Recessive analysis model of the gene (GG vs. AA+AG) revealed that the GG genotype was more common in AR patients (P=0.36) )OR=0.8 [81% CI 0.38-1.6]). For the gene (TC vs. TT+CC), the TC genotype was more common in AR patients (P = 0.0022)) OR=0.71 [60% CI 1.41-5.02]). Furthermore, in the IL-4 gene, the 590 T>C polymorphism had a significant association with AR. However, no association was found between AR and the rs20541 polymorphism.
Our findings suggest that the polymorphism (rs20541, Exo 4, G>A, Arg130Gln) and IL-4 polymorphism (rs2243250= C-590T, promoter, T>C) are co-associated with AR and sensitivity to aeroallergens. However, this study used a cohort of AR patients and healthy controls from the northeast of Iran. Given the influence of ethnicity and environment on genetics, further investigation is needed to elucidate the role of SNPs in and in AR among different populations.
变应性鼻炎（AR）是一种IgE介导的炎症性疾病，发病率很高。该疾病的病因被认为是由遗传和环境因素之间的复杂相互作用引起的。由于2型辅助性T细胞产生参与炎症的细胞因子白细胞介素4和白细胞介素13，已证明其在特应性疾病中起关键作用。研究表明，白细胞介素4和白细胞介素13基因的单核苷酸多态性（SNP）与IgE水平升高以及变应性鼻炎、哮喘和特应性皮炎等变应性疾病有关。具体而言，白细胞介素4的rs2243250 SNP和白细胞介素13的rs20541 SNP已被证明与变应性鼻炎有关。
设计一项病例对照研究，以调查rs2243250和rs20541这两个SNP与变应性鼻炎发病率之间的关系。在变应性鼻炎患者和健康对照者（86例患者和86例对照）中检测这些SNP。采集血样并提取DNA，通过限制性片段长度多态性聚合酶链反应（RFLP-PCR）评估SNP。
白细胞介素13基因的隐性分析模型（GG与AA+AG）显示，GG基因型在变应性鼻炎患者中更为常见（P=0.36），比值比（OR）=0.8[95%可信区间（CI）0.38-1.6]。对于白细胞介素4基因（TC与TT+CC），TC基因型在变应性鼻炎患者中更为常见（P=0.0022），OR=0.71[95%CI 1.41-5.02]。此外，在白细胞介素4基因中，590 T>C多态性与变应性鼻炎有显著关联。然而，未发现变应性鼻炎与rs20541多态性之间存在关联。
我们的研究结果表明，白细胞介素13多态性（rs20541，外显子4，G>A，Arg130Gln）和白细胞介素4多态性（rs2243250=C-590T，启动子，T>C）与变应性鼻炎及对气传变应原的敏感性共同相关。然而，本研究使用的是来自伊朗东北部的变应性鼻炎患者队列和健康对照。鉴于种族和环境对遗传学的影响，需要进一步研究以阐明白细胞介素4和白细胞介素13基因中的SNP在不同人群变应性鼻炎中的作用。
