Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
J Dermatol Sci. 2011 Apr;62(1):16-21. doi: 10.1016/j.jdermsci.2011.01.007. Epub 2011 Jan 22.
The genes encoding IL-9 and IL-9R have recently been implicated in the genetic basis of asthma and allergy. Although studies performed on transgenic and knockout mice have shown conflicting results, no evidence of skin changes has ever been reported in these animals.
To find association of the SNPs in IL-9 and IL-9R genes and interaction of these genes in atopic dermatitis.
We genotyped 5 SNPs from the IL-9 and IL-9R genes of 1090 subject samples (631 AD patients and 459 normal controls). A luciferase assay was then performed for the rs31563 (-4091G/A) SNP located in the IL-9 gene promoter region.
The rs31563 (-4091G/A) SNP in the IL-9 gene was significantly associated with the AD phenotype, especially allergic-type AD. In the luciferase assay, the rs31563 G construct was observed to have 1.54 times higher activity than the rs31563 A construct. Although no association was found between SNPs in IL-9R gene and AD, the rs3093467 SNP showed association with non-allergic AD. In the gene-gene interaction analysis, we found that IL-9/IL-9R genotype rs31563 GG/rs3093467 TT conveyed a greater risk for AD phenotype development.
Significant evidence exists to suggest that the rs31563 SNP (-4091G/A) located in the IL-9 gene is associated with an increased susceptibility to AD. Similarly, the rs3093467 SNP in IL-9R gene seems to be associated with an increased risk for developing non-allergic AD. In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT genotype combination (IL-9/IL-9R) was found to exert a synergistic effect in the development of the AD phenotype. As the classes of helper T cells are diverse and the function of IL-9 cytokine has not been fully described, the cutaneous function of IL-9 needs to be further explored in future studies.
IL-9 和 IL-9R 基因的编码最近被牵连到哮喘和过敏的遗传基础中。尽管在转基因和基因敲除小鼠上进行的研究得出了相互矛盾的结果，但这些动物从未报告过皮肤变化的证据。
寻找 IL-9 和 IL-9R 基因中的 SNPs 关联以及这些基因在特应性皮炎中的相互作用。
我们对 1090 个样本（631 名 AD 患者和 459 名正常对照）的 IL-9 和 IL-9R 基因中的 5 个 SNP 进行了基因分型。然后对位于 IL-9 基因启动子区域的 rs31563（-4091G/A）SNP 进行了荧光素酶检测。
IL-9 基因中的 rs31563（-4091G/A）SNP 与 AD 表型显著相关，特别是过敏型 AD。在荧光素酶检测中，观察到 rs31563 G 构建体的活性比 rs31563 A 构建体高 1.54 倍。尽管在 IL-9R 基因中的 SNP 与 AD 之间未发现关联，但 rs3093467 SNP 与非过敏型 AD 相关。在基因-基因相互作用分析中，我们发现 IL-9/IL-9R 基因型 rs31563 GG/rs3093467 TT 对 AD 表型发展的风险更大。
有充分证据表明，位于 IL-9 基因中的 rs31563 SNP（-4091G/A）与 AD 的易感性增加有关。同样，IL-9R 基因中的 rs3093467 SNP 似乎与非过敏型 AD 发病风险增加有关。在随后的基因-基因相互作用分析中，发现 rs31563 GG/rs3093467 TT 基因型组合（IL-9/IL-9R）在 AD 表型的发展中具有协同作用。由于辅助性 T 细胞的种类繁多，IL-9 细胞因子的功能尚未完全描述，因此需要在未来的研究中进一步探索 IL-9 的皮肤功能。
