Filaggrin loss-of-function mutations are not associated with atopic dermatitis that develops in late childhood or adulthood

Abstract

Background: The influence of filaggrin gene (FLG) mutations on early- vs. late-onset development of atopic dermatitis (AD), allergic contact dermatitis (ACD) and chronic irritant contact dermatitis (CICD) is not completely understood.

Objectives: To assess the association between FLG mutations and development of AD, ACD and CICD.

Methods: This study assessed 241 patients with AD. AD developed during infancy in 85 patients, during childhood in 79 patients (32 early and 47 late) and during adulthood in 77 patients. We also included 100 patients with ACD and 44 with CICD, as well as 164 healthy controls. Four prevalent FLG loss-of-function mutations were genotyped (R501X, 2282del4, R2447X and S3247X).

Results: The 2282del4 mutation was significantly associated with a greater risk of AD in the entire group [odds ratio (OR) 4·33, 95% confidence interval (CI) 1·26-14·96]. However, the 2282del4 mutation was associated only with AD that developed during infancy or in early childhood (≤ 8 years: OR 20·91, 95% CI 2·73-159·9), not with AD development in late childhood or adulthood (> 8 or > 18 years), or ACD or CICD. Similar associations were also observed for the combined 2282del4 or R501X genotype. Carriers of FLG mutations also experienced a longer duration of AD and required hospitalization more often.

Conclusions: FLG mutations are associated with only the early onset of AD, not late onset. Other factors should receive attention in patients with late-onset AD.