On Hye Rang, Lee Sang Eun, Kim Song Ee, Hong Won Jin, Kim Hyun Jung, Nomura Toshifumi, Suzuki Shotaro, Shimizu Hiroshi, Kim Soo Chan
Department of Dermatology, Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Department of Dermatology, Seoul Medical Center, Seoul, Korea.
Yonsei Med J. 2017 Mar;58(2):395-400. doi: 10.3349/ymj.2017.58.2.395.
Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. The aim of this study was to examine the spectrum of FLG mutations in Koreans with AD. We also investigated the association of FLG mutations and clinical features of AD and compared the Korean FLG landscape with that of other East Asian countries.
Seventy Korean patients with AD were enrolled in this study. Fourteen FLG mutations previously detected in Korean, Japanese, and Chinese patients were screened by genotyping.
Four FLG null mutations (3321delA, K4022X, S3296X, and S2889X) were identified in eleven patients (15.7%). The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%). FLG mutations were significantly associated with elevated IgE (≥200 KIU/L and/or MAST-CLA >3+, p=0.005), palmar hyperlinearity (p<0.001), and a family history of allergic disease (p=0.021).
This study expanded our understanding of the landscape of FLG mutations in Koreans and revealed an association between FLG mutations and AD phenotype.
特应性皮炎（AD）是一种慢性复发性湿疹样炎症性皮肤病。丝聚蛋白基因（FLG）突变是AD的主要易感因素。亚洲和欧洲人群在FLG突变的频率和谱型上存在种族差异。此外，亚洲人群中已报道了一组独特的FLG突变。本研究的目的是检测韩国AD患者中FLG突变的谱型。我们还研究了FLG突变与AD临床特征之间的关联，并将韩国的FLG情况与其他东亚国家进行了比较。
本研究纳入了70例韩国AD患者。通过基因分型筛查了先前在韩国、日本和中国患者中检测到的14种FLG突变。
在11例患者（15.7%）中鉴定出4种FLG无义突变（3321delA、K4022X、S3296X和S2889X）。韩国AD患者中最常检测到的突变是3321delA（n = 6，9.1%）和K4022X（n = 3，4.5%）。FLG突变与IgE升高（≥200 KIU/L和/或MAST-CLA>3+，p = 0.005）、掌纹增粗（p<0.001）以及过敏性疾病家族史（p = 0.021）显著相关。
本研究扩展了我们对韩国人FLG突变情况的认识，并揭示了FLG突变与AD表型之间的关联。
