Department of Dermatology, DIAID, Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Waehringer Guertel 18-20 1090 Vienna, Austria.
Eur J Dermatol. 2013 Apr 1;23(2):142-5. doi: 10.1684/ejd.2013.1955.
Recently, the two single nucleotide polymorphisms, rs7927894 on chromosome 11q13.5 and rs877776 within the region of the hornerin gene, were identified as novel susceptibility variants for atopic dermatitis in the first genome wide association study in atopic dermatitis.
The aim of our study was to evaluate the influence of these two genetic variants on atopic dermatitis and disease-related phenotypes in the Austrian population.
275 atopic dermatitis patients and 243 controls were genotyped for the two variants rs7927894 and rs877776 by using Taqman based allelic discrimination assays.
When comparing patients with controls we found a significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis (OR: 1.71; CI 1.14-2.59; p=0.010). Subgroup analysis revealed no significant association of rs7927894 with early age of onset of the disease, concomitant asthma and allergic rhinoconjunctivitis, total serum IgE levels and family history of atopy. The analysis of the rs877776 variant showed neither a relevant difference in the allelic distribution between patients and controls nor a statistically significant association with any of the analyzed atopic dermatitis phenotypes.
In summary our data show a statistically significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis but not with other disease-related phenotypes. Therefore, we assume that the rs7927894 single nucleotide polymorphism selectively influences eczema development. More investigations in distinct study populations are needed to assess the role of this interesting polymorphism in atopic dermatitis.
最近,在特应性皮炎的首次全基因组关联研究中,发现了两个位于 11q13.5 染色体上的 rs7927894 单核苷酸多态性和 hornerin 基因内的 rs877776 单核苷酸多态性,它们是特应性皮炎的新的易感变异。
本研究旨在评估这两种遗传变异对奥地利人群特应性皮炎和疾病相关表型的影响。
使用 Taqman 基于等位基因鉴别检测法,对 275 例特应性皮炎患者和 243 例对照者进行 rs7927894 和 rs877776 两个变体的基因分型。
与对照组相比,我们发现 11q13.5 染色体上的 rs7927894 变体与特应性皮炎显著相关(OR:1.71;CI 1.14-2.59;p=0.010)。亚组分析显示,rs7927894 与疾病的早发年龄、伴发哮喘和过敏性鼻结膜炎、总血清 IgE 水平以及特应性家族史无关。rs877776 变体的分析显示,患者和对照组之间的等位基因分布没有显著差异,也与分析的任何特应性皮炎表型没有统计学显著关联。
总之,我们的数据显示,11q13.5 染色体上的 rs7927894 变体与特应性皮炎有统计学显著关联,但与其他疾病相关表型无关。因此,我们假设 rs7927894 单核苷酸多态性选择性地影响湿疹的发展。需要在不同的研究人群中进行更多的研究,以评估这种有趣的多态性在特应性皮炎中的作用。