分析在患有特应性皮炎的奥地利和德国患者中四种常见的丝聚合蛋白突变（R501X、2282del4、R2447X 和 S3247X）。
Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
机构信息
Department of Dermatology, Division of Immunology, Allergy and Infectious Diseases, Medical University of Vienna, Vienna, Austria.
出版信息
J Eur Acad Dermatol Venereol. 2010 May;24(5):607-10. doi: 10.1111/j.1468-3083.2009.03469.x. Epub 2009 Oct 23.
BACKGROUND
Recently, mutations in the filaggrin gene (FLG) have been shown to be a major predisposing factor for atopic dermatitis (AD).
OBJECTIVE
In this study, we evaluated the influence of four prevalent mutations (R501X, 2282del4, R2447X and S3247X) in a large cohort of 462 Austrian and German AD patients and in 402 control individuals.
RESULTS
We found a strong association of the FLG mutations with AD. Subgroup analysis revealed a significantly higher proportion of patients with an early age of disease onset and significantly higher median serum IgE levels among mutation carriers. Furthermore, we observed an overrepresentation of null alleles in AD patients with concomitant asthma compared with those without this co-morbidity.
CONCLUSION
Our data confirm and extend the knowledge of the influence of FLG mutations in AD.
背景
最近，丝聚蛋白基因（FLG）的突变被证实是特应性皮炎（AD）的一个主要易感因素。
目的
在这项研究中，我们评估了 462 名奥地利和德国 AD 患者及 402 名对照个体中 4 种常见突变（R501X、2282del4、R2447X 和 S3247X）的影响。
结果
我们发现 FLG 突变与 AD 有很强的关联。亚组分析显示，突变携带者的疾病发病年龄更早，血清 IgE 水平中位数更高。此外，我们还观察到在伴有哮喘的 AD 患者中，无功能等位基因的出现频率高于无这种合并症的患者。
结论
我们的数据证实并扩展了 FLG 突变在 AD 中的作用的相关知识。
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