Narożna Beata, Hoffmann Aleksandra, Sobkowiak Paulina, Schoneich Natalia, Bręborowicz Anna, Szczepankiewicz Aleksandra
Laboratory of Molecular and Cell Biology, Department of Pulmonology, Pediatric Allergy and Clinical Immunology, Poznan University of Medical Sciences, Poznan, Poland.
Laboratory of Molecular and Cell Biology, Department of Pulmonology, Pediatric Allergy and Clinical Immunology, Poznan University of Medical Sciences, Poznan, Poland.
Adv Med Sci. 2016 Mar;61(1):40-5. doi: 10.1016/j.advms.2015.07.003. Epub 2015 Aug 8.
Interleukin 4 (IL4), interleukin 4 receptor (IL4R) and interleukin 13 (IL13) play a key role in the pathogenesis of allergy and asthma development. IL4 and IL13 strongly influence bronchial hyperreactivity in response to allergen, airway remodeling, airway inflammation and airway smooth muscle proliferation. Both IL4 and IL13 exert biologic effect via interleukin 4 receptor. The aim of this study was to evaluate the impact of the polymorphisms within interleukin 4 (rs2243250, rs2227284), interleukin 4 receptor α chain (rs1805010, rs1805011) and interleukin 13 (rs20541) genes on the incidence of allergic phenotype in Polish pediatric population.
MATERIAL/METHODS: We compared 177 asthmatic pediatric patients with 194 healthy children. Five polymorphisms within IL4, IL13 and IL4Rα genes were analyzed. Genotypes of four polymorphisms (rs2243250, rs2227284, rs1805011, rs20541) were assigned by TaqMan SNP Genotyping Assays (Applied Biosystems), whereas rs18050100 polymorphism was established using PCR-RFLP method.
We observed an association of rs1805011 polymorphism of IL4Rα gene with allergy (p=0.021), mild asthma (p=0.00005) and atopic dermatitis (p=0.0056). Significant correlation was found between rs20541 in IL-13 gene and the positive skin prick test results (p=0.029), along with rs2243250 polymorphism with clinical atopy (p=0.033) and rs2227284 with total IgE levels (p=0.00047). No associations were found for rs1805010.
Our results indicate that rs1805011 polymorphism of IL4Rα gene seems to influence allergy risk, especially mild asthma and atopic dermatitis predisposition in Polish children. Subgroup analysis of three other SNPs revealed possible influence on allergy development.
白细胞介素4（IL4）、白细胞介素4受体（IL4R）和白细胞介素13（IL13）在过敏和哮喘发病机制中起关键作用。IL4和IL13对过敏原引起的支气管高反应性、气道重塑、气道炎症及气道平滑肌增殖有强烈影响。IL4和IL13均通过白细胞介素4受体发挥生物学效应。本研究旨在评估白细胞介素4（rs2243250、rs2227284）、白细胞介素4受体α链（rs1805010、rs1805011）和白细胞介素13（rs20541）基因内多态性对波兰儿童群体过敏表型发生率的影响。
材料/方法：我们将177例哮喘儿童患者与194例健康儿童进行比较。分析了IL4、IL13和IL4Rα基因内的5种多态性。4种多态性（rs2243250、rs2227284、rs1805011、rs20541）的基因型通过TaqMan SNP基因分型检测法（应用生物系统公司）确定，而rs1805010多态性则采用PCR-RFLP方法确定。
我们观察到IL4Rα基因的rs1805011多态性与过敏（p = 0.021）、轻度哮喘（p = 0.00005）和特应性皮炎（p = 0.0056）有关。发现IL-13基因中的rs20541与皮肤点刺试验阳性结果之间存在显著相关性（p = 0.029），rs2243250多态性与临床特应性（p = 0.033）以及rs2227284与总IgE水平（p = 0.00047）之间存在显著相关性。未发现rs1805010有相关性。
我们的结果表明，IL4Rα基因的rs1805011多态性似乎影响过敏风险，尤其是波兰儿童的轻度哮喘和特应性皮炎易感性。对其他3个单核苷酸多态性的亚组分析揭示了对过敏发展的可能影响。
