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首页> 外文期刊>Allergy >Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.
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Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.

机译：中国汉族特应性皮炎患者中丝蛋白基因的突变。

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BACKGROUND: Recently, loss-of-function mutations in the filaggrin gene (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and also predisposing factors for atopic dermatitis (AD) and AD-associated phenotypes. Until now, over thirty mutations in FLG have been identified in patients with IV and AD, but the FLG mutation spectrum is not clear for Chinese Han patients with AD. This study aimed to investigate the role of FLG mutations in AD and AD-associated phenotypes in a Chinese population. METHODS: We carried out a comprehensive sequencing of the entire FLG coding region in 261 Han AD patients. RESULTS: In our research, we identified ten novel mutations (R826X, 3222del4, R1140X, 4271delAA, Q1790X, 5757del4, 6834del5, 6950del8, S2706X and K4671X) and eight reported mutations (441delA, R501X, 3321delA, R1474X, Q2417X, E2422X, 7945delA and R4306X) in FLG. FLG mutations were present in 31.4% of our AD patients. Mutations 3321delA and K4671X, with a frequency of 14.6% and 9.2%, respectively, were two of the most common mutations in this AD cohort. FLG null alleles (compound genotypes) were significantly associated with AD (P < 0.001) and AD associated with food sensitization (P = 0.012). However, we did not observe a positive association between FLG mutations and other AD-associated phenotypes, including asthma, allergic rhinitis and elevated total serum IgE level. CONCLUSION: Our study increases the total number of reported FLG mutations. Moreover, we further confirm that FLG mutations are strong predisposing factors for AD in Han Chinese.
机译：背景：最近，已确定丝蛋白基因（FLG）的功能丧失突变是寻常鱼鳞病（IV）的病因，也是特应性皮炎（AD）和与AD相关的表型的诱因。到目前为止，在IV和AD患者中已经鉴定出超过30种FLG突变，但是对于中国汉族AD患者FLG突变谱尚不清楚。这项研究旨在调查在中国人群中FLG突变在AD和与AD相关的表型中的作用。方法：我们对261例汉族AD患者的整个FLG编码区进行了全面的测序。结果：在我们的研究中，我们鉴定了十个新突变（R826X，3222del4，R1140X，4271delAA，Q1790X，5757del4、6834del5、6950del8，S2706X和K4671X）和八个报告的突变（441delA，R501X，3321delA，R1474X，Q2417X，E2422和FLG中的R4306X）。 FLG突变存在于31.4％的AD患者中。突变3321delA和K4671X的频率分别为14.6％和9.2％，是该AD队列中最常见的两个突变。 FLG无效等位基因（复合基因型）与AD显着相关（P <0.001），而AD与食物敏感性相关（P = 0.012）。但是，我们没有观察到FLG突变与其他与AD相关的表型之间存在正相关，包括哮喘，过敏性鼻炎和总血清IgE水平升高。结论：我们的研究增加了报告的FLG突变的总数。此外，我们进一步证实FLG突变是汉族人AD的强大诱因。

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