title: Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population.
abstract: BACKGROUND
  We confirmed that the filaggrin gene mutation c.3321delA is associated with atopic dermatitis in our previous genome wide association study of the Chinese Han population. c.3321delA is the most common filaggrin gene mutation in Chinese atopic dermatitis patients but is not present in European populations.
  
  
  OBJECTIVE
  To investigate the genetic model for the c.3321delA mutation and to determine the correlation between c.3321delA and atopic dermatitis clinical phenotypes in the Chinese Han population.
  
  
  METHODS
  The filaggrin gene mutation c.3321delA was sequenced in 1,080 atopic dermatitis patients and 908 controls from the Chinese population. The χ2 test, ANOVA,nonparametric tests and logistic regression were used to investigate the relationship between the c.3321delA genotype and atopic dermatitis clinical phenotypes in the Chinese Han population.
  
  
  RESULTS
  Analyses of the genetic model revealed that the additive model best described the c.3321delA mutation (P = 3.09E-11, OR = 3.43, 95%CI = 2.38-4.96). Stratified analyses showed that the c.3321delA allele frequency distribution is significantly associated with concomitant skin xerosis (P = 1.68E-03, OR = 2.13,95%CI = 1.32-3.46), palmar hyperlinearity (P = 3.64E-17, OR = 4.0,95%CI = 2.86-5.70), white dermatographism (P = 4.25E-03, OR = 1.82,95%CI = 1.22-2.71), food intolerance (P = 1.51E-03, OR = 1.76,95%CI = 1.23-2.50) and disease severity ( P = 9.67E-05).
  
  
  CONCLUSIONS
  Our study indicates that the filaggrin gene mutation c.3321delA is associated with clinical phenotypes of atopic dermatitis in the Chinese Han population, which might help us gain a better understanding on the pathogenesis of atopic dermatitis.
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Li
authors.initials: L
authors.lastname: Meng
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Huayang
authors.initials: H
authors.lastname: Tang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xianfa
authors.initials: X
authors.lastname: Tang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jiang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Jinhua
authors.initials: J
authors.lastname: Zhao
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Gao
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Li
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xuhui
authors.initials: X
authors.lastname: Fu
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Weiyi
authors.initials: W
authors.lastname: Yao
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Wenying
authors.initials: W
authors.lastname: Zhan
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wu
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Dawei
authors.initials: D
authors.lastname: Duan
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Changbing
authors.initials: C
authors.lastname: Shen
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Cheng
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xianbo
authors.initials: X
authors.lastname: Zuo
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Liangdan
authors.initials: L
authors.lastname: Sun
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China; Department of Dermatology at No.2 Hospital, Anhui Medical University, Hefei, Anhui, China; Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology / Q000208:ethnology; D003876:Dermatitis, Atopic / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins