中间丝聚合蛋白基因多态性与特应性皮炎发病及临床表型的相关性

doi:10.3760/cma.j.issn.0412-4030.2017.11.007

中华皮肤科杂志 ›› 2017, Vol. 50 ›› Issue (11): 806-809.doi: 10.3760/cma.j.issn.0412-4030.2017.11.007

中间丝聚合蛋白基因多态性与特应性皮炎发病及临床表型的相关性

张卉程茹虹李明姚志荣

200092 上海交通大学医学院附属新华医院皮肤科

收稿日期:2017-05-22 修回日期:2017-07-31 发布日期:2017-11-02
通讯作者: 姚志荣 E-mail:dermatology.yao@sohu.com

Association of polymorphisms in the filaggrin gene with the occurrence and clinical phenotypes of atopic dermatitis

Zhang Hui, Cheng Ruhong, Li Ming, Yao Zhirong

Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Received:2017-05-22 Revised:2017-07-31 Published:2017-11-02

摘要/Abstract

摘要： 目的探讨中间丝聚合蛋白（FLG）基因多态性与特应性皮炎（AD）发病及临床表型的相关性。方法采用问卷调查的形式收集261例AD患者伴发过敏性鼻炎、哮喘病史和疾病严重度评分等资料，对部分患者进行混合食物过敏原和混合吸入性过敏原筛选、血清总IgE抗体和嗜酸性粒细胞阳离子蛋白水平检测。采用重叠PCR和DNA测序法对上述AD患者和276例健康对照FLG基因3号外显子17个多态性位点（R444G、T454A、P478S、H519N、D836D、S1482Y、A1805V、R1891Q、1961Q、S2166S、Y2194H、H2330H、D2339N、S2366T、E2398Q、K2444E、E2652D）进行基因分型。结果二项逻辑回归分析和卡方检验未发现17种FLG多态位点与AD发病相关（均P > 0.05）。H519N与AD伴发哮喘相关（χ2 = 8.680，P = 0.011），AA基因型可增加AD患者发生哮喘的风险（P = 0.004，OR = 1.061， 95% CI 1.016 ~ 1.109）。S2366T和K2444E与AD患者食物敏感相关（χ2值分别为6.520和6.121，P值分别为0.038和0.047），S2366T的GG + GC基因型（P = 0.012，OR = 1.396， 95% CI 1.054 ~ 1.849）和G等位基因（P = 0.037，OR = 1.350， 95% CI 1.008 ~ 1.807）可提高AD患者食物敏感的风险。K2444E的AA + AG基因型（P = 0.013，OR = 1.393， 95% CI 1.049 ~ 1.850）和G等位基因（P = 0.028，OR = 1.380， 95% CI 1.025 ~ 1.857）可提高AD患者食物敏感的风险。结论中国汉族人群 FLG基因多态性可能是一些 AD相关临床表型的危险因素，H519N可能与AD伴发哮喘相关，S2366T和K2444E则可能与AD伴食物敏感相关。

Abstract: Zhang Hui, Cheng Ruhong, Li Ming, Yao Zhirong Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China Corresponding author: Yao Zhirong, Email: zryaoxh@sina.com 【Abstract】 Objective To investigate the association of polymorphisms in the filaggrin （FLG） gene with the occurrence and clinical phenotypes of atopic dermatitis （AD）. Methods A questionnaire survey was carried out to collect data from 261 patients with AD, including the diagnosis of allergic rhinitis and asthma, and the severity of AD. Mixed food allergen screening test and mixed inhaled allergen screening test were performed in a part of patients, so was the detection of total serum IgE and eosinophil cationic protein （ECP）. Among the above AD patients and 276 healthy controls, 17 polymorphic sites in exon 3 of the FLG gene, including R444G, T454A, P478S, H519N, D836D, S1482Y, A1805V, R1891Q, 1961Q, S2166S, Y2194H, H2330H, D2339N, S2366T, E2398Q, K2444E and E2652D, were genotyped by overlapping PCR and DNA sequencing. Results Binary logistic regression analysis and chi-square test showed no correlations between the 17 polymorphic sites in the FLG gene and the occurrence of AD （all P > 0.05）. However, the H519N polymorphic site was associated with AD complicated by asthma （χ2 = 8.680, P = 0.011）, and the AA genotype of H519N could increase the risk of asthma in the AD patients （P = 0.004, OR = 1.061, 95% CI: 1.016 - 1.109）. The S2366T and K2444E polymorphic sites were associated with food sensitization in the AD patients （χ2 = 6.520, 6.121, P = 0.038, 0.047, respectively）, and the GG + CG genotype of S2366T （P = 0.012, OR = 1.396, 95% CI: 1.054 - 1.849）and its G allele （P = 0.037, OR = 1.350, 95% CI: 1.008 - 1.807） both could increase the risk of food sensitization in the AD patients. Similarly, the AA + GA genotype of K2444E （P = 0.013, OR = 1.393, 95% CI: 1.049 - 1.850） and its G allele （P = 0.028, OR = 1.380, 95% CI: 1.025 - 1.857） could increase the risk of food sensitization in the AD patients. Conclusions The FLG polymorphisms may be predisposing factors for some AD-related clinical phenotypes in Chinese Han population. The H519N gene may be associated with AD complicated by asthma, and the S2366T and K2444E genes may be related to food sensitization in AD patients.

张卉程茹虹李明姚志荣. 中间丝聚合蛋白基因多态性与特应性皮炎发病及临床表型的相关性[J]. 中华皮肤科杂志, 2017,50(11):806-809. doi:10.3760/cma.j.issn.0412-4030.2017.11.007

Zhang Hui, Cheng Ruhong, Li Ming, Yao Zhirong. Association of polymorphisms in the filaggrin gene with the occurrence and clinical phenotypes of atopic dermatitis[J]. Chinese Journal of Dermatology, 2017, 50(11): 806-809.doi:10.3760/cma.j.issn.0412-4030.2017.11.007

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中间丝聚合蛋白基因多态性与特应性皮炎发病及临床表型的相关性

Association of polymorphisms in the filaggrin gene with the occurrence and clinical phenotypes of atopic dermatitis

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