Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
2014
Background We confirmed that the
filaggringene mutation c.3321delA is associated with
atopic dermatitisin our previous genome wide association study of the Chinese Han population. c.3321delA is the most common
filaggringene mutation in Chinese
atopic dermatitispatients 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 dermatitisclinical phenotypes in the Chinese Han population. Method The
filaggringene mutation c.3321delA was sequenced in 1,080
atopic dermatitispatients 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 dermatitisclinical phenotypes in the Chinese Han population. Results Analyses of the genetic model revealed that the
additive modelbest 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
filaggringene mutation c.3321delA is associated with clinical phenotypes of
atopic dermatitisin the Chinese Han population, which might help us gain a better understanding on the pathogenesis of
atopic dermatitis.
Keywords:
-
Correction
-
Source
-
Cite
-
Save
38
References
19
Citations
NaN
KQI