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Functional Significance of Single-Nucleotide Polymorphism (rs11204981) in Filaggrin (flg) Gene for the Treatment of Bronchial Asthma in Children with Atopic Dermatitis

机译:单核苷酸多态性(FLG)基因的单核苷酸多态性(RS11204981)在特应性皮炎儿童支气管哮喘治疗中的单核苷酸多态性(FLG)基因的功能意义

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摘要

Objective. The objective of this study was to determine the correlation between single-nucleotide polymorphism in filaggrin gene and expression of filaggrin mRNA in buccal epithelium and the phenotype of bronchial asthma with atopic dermatitis in medical history of children. Methods. Filaggrin genotyping (rs11204981) was carried out in group of patients with bronchial asthma and control group using real-time polymerase chain reaction (PCR). The level of mRNA expression was assessed by reverse transcription and subsequent real-time PCR. Results. We have found that 5 % of patients in the study group and 2 % in the control group had a minor allele (AA), 27 and 36 %, respectively, — heterozygous allele (GA), 67 and 61 % — major allele (GG). Variants with the AA genotype of the FLG rs11204981 were found 2.4 times more often in patients from the study group than in controls. Heterozygous variant had significantly higher expression in filaggrin in buccal epithelium. Conclusions. We believe that polymorphism in filaggrin gene (rs11204981) can serve as an important prognostic marker for the phenotype of bronchial asthma and atopic dermatitis, and that high levels of expression in the heterozygous state may indicate the protective role of this genotype in the development of allergy.
机译:客观的。本研究的目的是确定单核苷酸多态性之间在聚丝蛋白基因和聚丝蛋白mRNA的表达在颊上皮和支气管哮喘的特应性皮炎儿童的医疗史表型的相关性。方法。聚丝蛋白基因分型(rs11204981)的混合物在的支气管哮喘患者和对照组使用实时聚合酶链反应(PCR)基团进行。 mRNA表达水平通过逆转录和随后的实时PCR评估。结果。我们发现,患者的研究组在5%和2%,对照组中有一个轻微的等位基因(AA),分别为27和36%, - 杂合子等位基因(GA),67和61% - 主要等位基因(GG )。变与FLG rs11204981的AA基因型比对照中发现的2.4倍多发于患者的研究组。杂变体在口腔上皮细胞有丝聚蛋白高显著表达。结论。我们相信,在聚丝蛋白基因(rs11204981),其多态性可以作为一个重要的预后标志物用于治疗支气管哮喘和过敏性皮炎,并在杂合状态,高水平表达的表型,可能表明这种基因型的过敏发展的保护作用。

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