Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population

PLoS One. 2014 May 23;9(5):e98235. doi: 10.1371/journal.pone.0098235. eCollection 2014.

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.

Method: 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).

Conclusion: 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.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / ethnology
  • Child
  • Child, Preschool
  • China / epidemiology
  • China / ethnology
  • Dermatitis, Atopic / epidemiology
  • Dermatitis, Atopic / ethnology
  • Dermatitis, Atopic / genetics*
  • Dermatitis, Atopic / pathology
  • Female
  • Filaggrin Proteins
  • Humans
  • Infant
  • Intermediate Filament Proteins / genetics*
  • Male
  • Middle Aged
  • Models, Genetic*
  • Mutation*

Substances

  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins

Grants and funding

This study was funded by General Program of National Natural Science Foundation of China (31171224, 31000528), Program for New Century Excellent Talents in University (NCET-11-0889), Science and Technological Foundation of Anhui Province for Outstanding Youth (1108085J10), Pre-project of State Key Basic Research Program 973 of China (No. 2012CB722404), and Hospital incubation program (3101005002354). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.