Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Allergy. 2014 Apr;69(4):537-40. doi: 10.1111/all.12369. Epub 2014 Jan 28.
Mutations in FLG coding profilaggrin cause ichthyosis vulgaris and are an important predisposing factor for atopic dermatitis. Until now, most case-control studies and population-based screenings have been performed only for prevalent mutations. In this study, we established a high-throughput FLG mutation detection system by real-time PCR with a set of two double-dye probes and conducted comprehensive screening for almost all of the Japanese-population-specific FLG mutations (ten FLG mutations). The present comprehensive screening for all ten FLG mutations provided a more precise prevalence rate for FLG mutations (11.1%, n = 820), which seemed high compared with data of previous reports based on screening for limited numbers of FLG mutations. Our comprehensive screening suggested that population-specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027-3.936, P < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema.
FLG 编码 profilaggrin 的突变导致寻常型鱼鳞病，并且是特应性皮炎的一个重要易感因素。到目前为止，大多数病例对照研究和基于人群的筛查仅针对常见突变进行。在这项研究中，我们通过实时 PCR 建立了一个高通量的 FLG 突变检测系统，使用一组两个双染料探针，并对几乎所有日本人群特异性的 FLG 突变（十个 FLG 突变）进行了全面筛查。目前对所有十个 FLG 突变的全面筛查提供了更准确的 FLG 突变流行率（11.1%，n=820），与以前基于有限数量的 FLG 突变筛查的报告数据相比，这似乎很高。我们的全面筛查表明，人群特异性的 FLG 突变可能是花粉症的一个重要易感因素（优势比=2.01[95%置信区间：1.027-3.936，P<0.05]），尽管本研究的样本量太小，无法对特应性皮炎患者和非特应性皮炎患者中 FLG 突变与花粉症之间的关联进行可靠的亚表型分析，并且尚不清楚 FLG 突变与花粉症之间的关联是否由于 FLG 突变与患有特应性皮炎的花粉症患者之间的密切关联。
