Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Am J Otolaryngol. 2013 Nov-Dec;34(6):676-81. doi: 10.1016/j.amjoto.2013.05.002. Epub 2013 Sep 26.
Allergic rhinitis (AR) is an inflammatory disorder of the upper airway. T-helper (Th)2 cytokines seems to have major roles behind the scene of unpleasant symptoms resulted from AR. Expression of interleukin (IL)-4 and its receptor could be affected by single nucleotide polymorphisms (SNPs). This study assessed the effect of 4 genetic variants within genes of IL-4 and IL-4R in AR.
Allele frequencies of one IL-4R variant (rs1801275) and three SNPs of IL-4 (rs2243248, rs2243250, and rs2070874) were investigated in 98 patients with AR, compared to a group of controls, using PCR sequence-specific-primers (PCR-SSP) method.
Homozygosity for the C allele of rs2243250 in IL-4 was significantly overrepresented in the patient group. CC genotype in rs2070874 significantly was correlated with AR. GG/CC/CC and TT/TT/TT (rs2243248, rs2243250, and rs2070874) haplotypes in the IL-4 gene had a significant negative correlation with AR.
SNPs in IL-4 are associated with AR and could change the clinical picture of the disease in patients.
变应性鼻炎（AR）是一种上呼吸道的炎症性疾病。辅助性 T 细胞（Th）2 细胞因子似乎在 AR 引起的不适症状背后发挥着主要作用。白细胞介素（IL）-4 及其受体的表达可能受到单核苷酸多态性（SNP）的影响。本研究评估了 IL-4 和 IL-4R 基因内的 4 种遗传变异在 AR 中的作用。
采用 PCR 序列特异性引物（PCR-SSP）法，检测 98 例 AR 患者和对照组中 IL-4R 基因中一个变异体（rs1801275）和三个 SNP（rs2243248、rs2243250 和 rs2070874）的等位基因频率。
IL-4 中 rs2243250 的 C 等位基因纯合子在患者组中明显过表达。rs2070874 的 CC 基因型与 AR 显著相关。IL-4 基因中的 GG/CC/CC 和 TT/TT/TT（rs2243248、rs2243250 和 rs2070874）单倍型与 AR 呈显著负相关。
IL-4 中的 SNP 与 AR 相关，并可能改变患者疾病的临床特征。
