National Allergy Research Centre, Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, 2900 Hellerup, Denmark.
Contact Dermatitis. 2010 Aug;63(2):89-95. doi: 10.1111/j.1600-0536.2010.01748.x.
Filaggrin null (FLG) mutations lead to skin barrier disruption with a reduced resistance towards exogenous agents and also influence the course of disease in atopic dermatitis.
To examine the association between FLG mutations and contact allergy, polysensitization, hand eczema at first appearance of disease, occurrence, and course of dermatitis.
A venous blood sample from 430 individuals was genotyped for FLG mutations R501X and 2282del4 with polymerase chain reaction followed by typing through hybridization to paramagnetic polystyrene beads and analysis on a BioPlex 200. All individuals had a minimum of one positive patch test reaction.
In all, 3.5% were 2282del4 heterozygote and 5.1% were R501X heterozygote. An odds ratio (OR) of 1.49 [95% confidence interval (CI) 0.74-3.00] was found for nickel allergy, OR 0.84 (95% CI 0.41-1.74) for polysensitization, OR 0.78 (95% CI 0.25-2.43) for dermatitis, OR 0.96 (95% CI 0.48-1.92) for hand eczema at debut, OR 1.25 (95% CI 0.99-1.57) for duration of disease, and OR 0.76 (95% CI 0.59-0.97) for age at onset.
No association between nickel allergy, polysensitization, hand eczema at first appearance or occurrence of dermatitis, and FLG mutations was found. However, patients with FLG mutations had an earlier age of onset compared with the wild-type genotype and a trend towards longer duration of disease.
丝聚蛋白缺失(FLG)突变可导致皮肤屏障破坏,对外源性物质的抵抗力降低,还可影响特应性皮炎的疾病进程。
研究 FLG 突变与接触过敏、多敏反应、疾病首次出现时的手部湿疹、发生和皮炎病程之间的相关性。
采用聚合酶链反应(PCR)后杂交至顺磁聚苯乙烯珠和生物素 200 分析对 430 例个体的静脉血样本进行 FLG 突变 R501X 和 2282del4 基因分型。所有个体均至少有一项阳性斑贴试验反应。
共发现 3.5%为 2282del4 杂合子,5.1%为 R501X 杂合子。镍过敏的比值比(OR)为 1.49(95%置信区间[CI] 0.74-3.00),多敏反应的 OR 为 0.84(95%CI 0.41-1.74),皮炎的 OR 为 0.78(95%CI 0.25-2.43),疾病首次出现时的手部湿疹的 OR 为 0.96(95%CI 0.48-1.92),疾病病程的 OR 为 1.25(95%CI 0.99-1.57),发病年龄的 OR 为 0.76(95%CI 0.59-0.97)。
FLG 突变与镍过敏、多敏反应、疾病首次出现时的手部湿疹或皮炎的发生无相关性。然而,与野生型基因型相比,FLG 突变患者的发病年龄更早,疾病病程更长。