Ching G K, Hon K-L, Ng P-C, Leung T-F
Department of Pediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.
Int J Immunogenet. 2009 Aug;36(4):251-4. doi: 10.1111/j.1744-313X.2009.00859.x.
Atopic dermatitis (AD) is associated with loss or reduced expression of filaggrin (FLG). We evaluated five FLG null mutations, namely R501X, 2282del4, R2447X, S2554X, and S2889X, in 174 Chinese children with AD and 191 matched controls. 2282del4, R2447X, S2554X and S2889X mutations were not found in these patients. Heterozygous carriage of R501X was only found in four male patients, and associated with long-term disease severity. FLG mutations prevalent in Caucasian and other Asian populations are rarely found in our series.
特应性皮炎（AD）与丝聚合蛋白（FLG）缺失或表达降低有关。我们评估了174例中国AD患儿和191例匹配对照中的五个FLG无效突变，即R501X、2282del4、R2447X、S2554X和S2889X。这些患者中未发现2282del4、R2447X、S2554X和S2889X突变。仅在四名男性患者中发现了R501X的杂合携带，且与长期疾病严重程度相关。在我们的研究系列中很少发现白种人和其他亚洲人群中普遍存在的FLG突变。
