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.