Loss-of-function mutations in the filaggrin gene and alopecia areata:: Strong risk factor for a severe course of disease in patients comorbid for atopic disease
Loss-of-function mutations in the filaggrin gene and alopecia areata:: Strong risk factor for a severe course of disease in patients comorbid for atopic disease
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DOI：
10.1038/sj.jid.5700915
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发表时间：
2007-11-01
影响因子：
6.5
通讯作者：
Noethen, Markus M.
中科院分区：
文献类型：
--
作者：
Betz, Regina C.;Pforr, Jana;Noethen, Markus M.
斑秃（AA）是一种常见的皮肤病，影响近2%的一般人群。AA与特应性疾病的相关性已被反复报道。聚丝蛋白基因（FLG）的功能缺失突变可能被认为是AA中有希望的候选者，因为它们已被观察到是特应性皮炎的强风险因素。在AA患者（n=449）和对照组（n=473）的大样本中对FLG突变R501 X和2282 del 4进行基因分型。虽然在患者样本中未观察到显著相关性，但FLG突变与AA患者中特应性皮炎的存在显著相关。此外，FLG突变的存在对共病患者AA的临床病程有很大影响。例如，在患有特应性皮炎的AA患者中，22名突变携带者中有19名表现出严重的疾病形式（P 0.003;比值比（OR）5.47（95%置信区间（CI）：1.59-18.76））。总之，我们的数据表明，当AA发生与FLG相关的特应性障碍，AA的临床表现可能会更严重。
Alopecia areata (AA) is a common dermatological disease, which affects nearly 2% of the general population. Association of AA with atopic disease has been repeatedly reported. Loss-of-function mutations in the filaggrin gene (FLG) may be considered as promising candidates in AA, as they have been observed to be a strong risk factor in atopic dermatitis. The FLG mutations R501X and 2282del4 were genotyped in a large sample of AA patients (n=449) and controls (n=473). Although no significant association was observed in the patient sample overall, FLG mutations were significantly associated with the presence of atopic dermatitis among AA patients. Furthermore, the presence of FLG mutations had a strong impact on the clinical course of AA in comorbid patients. For example, 19 of the 22 mutation carriers among AA patients with atopic dermatitis showed a severe form of the disease ( P 0.003; odds ratio ( OR) 5.47 ( 95% confidence interval (CI): 1.59-18.76)). In conclusion, our data suggest that when AA occurs in conjunction with FLG-associated atopic disorder, the clinical presentation of AA may be more severe.