Chiriac Anca E, Popescu Roxana, Butnariu Lăcrămioara, Murgu Alina, Foia Liliana, Azoicai Doina
Department of Dermatology, Nicolina Medical Center, 700613 Iasi, Romania.
Department of Epidemiology, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.
Exp Ther Med. 2020 Dec;20(6):212. doi: 10.3892/etm.2020.9343. Epub 2020 Oct 15.
Association of atopic dermatitis (AD) and several mutations of various genes of the immune system, in particular filament-aggregating protein gene (FLG) has been investigated in many studies. The association between defective FLG and AD in the Romanian population has not been assessed or published. The present study focused on the genetic background of AD, aiming to assess the prevalence of FLG mutations in Romanian patients with AD. Genetic background of AD was tested for common FLG-mutations: R501X, 2282del4, S3247X and R2447X. The study involved 48 Romanian Caucasian children aged between two months and six years diagnosed with AD, and 48 healthy volunteers; DNA extraction involved 50% of the patients to give samples by using buccal swabs and 50% by collection of whole blood samples. Genetic predisposition was evaluated based on family history, atopy history and profilaggrin genotyping. DNA extracted from blood samples was adequate to study FLG mutations, although no mutation was identified. Genetic factors do not have a unique critical role in AD; therefore, environmental factors unquestionably play an important role in this disease, but the clear-cut part that these factors trigger toward increasing the risk of AD in childhood is still obscure.
许多研究都对特应性皮炎（AD）与免疫系统多种基因的若干突变，尤其是丝聚蛋白基因（FLG）进行了调查。罗马尼亚人群中FLG缺陷与AD之间的关联尚未得到评估或发表。本研究聚焦于AD的遗传背景，旨在评估罗马尼亚AD患者中FLG突变的患病率。对AD的遗传背景进行了常见FLG突变检测：R501X、2282del4、S3247X和R2447X。该研究纳入了48名年龄在2个月至6岁之间被诊断为AD的罗马尼亚白种儿童以及48名健康志愿者；DNA提取方面，50%的患者通过使用口腔拭子采集样本，50%的患者通过采集全血样本。基于家族病史、特应性病史和兜甲蛋白基因分型评估遗传易感性。尽管未发现突变，但从血样中提取的DNA足以用于研究FLG突变。遗传因素在AD中并非具有唯一的关键作用；因此，环境因素无疑在这种疾病中起着重要作用，但这些因素在增加儿童AD风险方面的确切作用仍不明确。
