Tsunemi Yuichiro, Saeki Hidehisa, Nakamura Koichiro, Sekiya Takashi, Hirai Koichi, Kakinuma Takashi, Fujita Hideki, Asano Noriko, Tanida Yuka, Wakugawa Motoshi, Torii Hideshi, Tamaki Kunihiko
Department of Dermatology, Faculty of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
J Dermatol Sci. 2002 Nov;30(2):100-7. doi: 10.1016/s0923-1811(02)00065-8.
Interleukin (IL)-13 plays an important role in the induction of immunoglobulin E (IgE) and in the pathogenesis of atopic dermatitis (AD). We investigated the allele and genotype frequencies of three IL-13 single nucleotide polymorphisms (SNPs) (A704C and C1103T in the promoter region and G4257A in exon 4) in Japanese patients with AD. For A704C and C1103T SNPs, there were no significant differences in allele or genotype frequencies between AD patients and controls. For G4257A SNP, A allele was significantly increased in AD patients (39.5%) compared with controls (29.4%) (P = 0.016). The same proportion of each genotype and allele was observed in the patient subgroup with and without asthma. Serum IgE levels and peripheral eosinophil counts were not significantly different among genotypes in G4257A SNP. There was also no significant difference in allele or genotype frequencies between AD patients with mild disease and those with severe disease, between those with family history of AD and those without it, or between those with family history of atopic disorders and those without it. This result suggests that 4257A allele is associated with susceptibility to AD and that it may function in the pathogenesis of AD itself, presumably by other mechanisms than inducing IgE production.
白细胞介素（IL）-13在免疫球蛋白E（IgE）的诱导以及特应性皮炎（AD）的发病机制中起重要作用。我们调查了日本AD患者中白细胞介素-13的三个单核苷酸多态性（SNP）（启动子区域的A704C和C1103T以及外显子4中的G4257A）的等位基因和基因型频率。对于A704C和C1103T这两个SNP，AD患者与对照组之间的等位基因或基因型频率没有显著差异。对于G4257A SNP，AD患者的A等位基因频率（39.5%）显著高于对照组（29.4%）（P = 0.016）。在有哮喘和无哮喘的患者亚组中观察到的每种基因型和等位基因比例相同。G4257A SNP各基因型之间的血清IgE水平和外周血嗜酸性粒细胞计数无显著差异。在轻度疾病和重度疾病的AD患者之间、有AD家族史和无AD家族史的患者之间、有特应性疾病家族史和无特应性疾病家族史的患者之间，等位基因或基因型频率也没有显著差异。这一结果表明，4257A等位基因与AD易感性相关，并且它可能在AD自身的发病机制中起作用，推测是通过不同于诱导IgE产生的其他机制。
