Loss-of-function polymorphisms in the filaggrin gene are associated with an increased susceptibility to chronic irritant contact dermatitis: a case-control study

Abstract

Our study shows that FLG null alleles are associated with increased susceptibility to CICD; whether or not the FLG null allele is an independent risk factor needs further study.

Individual Susceptibility to Occupational Contact Dermatitis

“…In the case-control study of de Jongh et al 23) an odds ratio (OR) of 2 was found for FLG loss-off-function mutations with respect to chronic ICD. Furthermore, in the control group consisting of apprentices involved in activities with high risk of skin irritation, skin abnormalities on the hands before the start of the vocational training were four times more prevalent in the carriers of FLG mutations.…”

“…In that study, atopy was defined as a history of asthma or dermatitis or hayfever. Recently, de Jongh et al 23) reported that a large proportion (37%) of patients with chronic ICD had present or previous flexural eczema, which is one of the main features of AD. In the control group consisting of apprentices in training for high risk occupations, a history of a self-reported flexural eczema was only present in 20%.…”

“…Recent studies investigated the polymorphisms of genes involved in maintaining of the skin barrier function: the filaggrin gene (FLG) (LCE) gene 22,23) . Both genes are located within the epidermal differentiation complex on chromosome 1q21, a dense cluster of genes involved in the terminal epidermal differentiation and formation of the stratum corneum 24) .…”

Epidemiology of Contact Dermatitis

“…Thus, the effect of atopic dermatitis seemed to level off with increasing age. Whether association between hand eczema on the one hand and atopic dermatitis or atopy on the other hand is explained by null mutations in the filaggrin gene (de Jongh et al, 2008;Carlsen et al, 2011), by an altered immune response McFadden et al, 2011), or by their combination is currently unknown. Future studies should aim to investigate the distribution of these risk factors.…”

An update on the genetics of atopic dermatitis: Scratching the surface in 2009

“…The FLG mutations have also been consistently associated with risk of other atopic traits, including asthma, hay fever, rhinoconjunctivitis, and allergen-specific IgE [79][80][81][82][83][84][85][86] . Recently, Gao and colleagues (unpublished data) evaluated whether FLG polymorphisms contribute to the serious complication of AD resulting from disseminated cutaneous HSV infections, eczema herpeticum, and determined that the frequency of the R501X mutation was three times higher (24% vs. 8%, respectively) and the relative risk for disease nearly double for eczema herpeticum compared to AD without eczema herpeticum (odds ratio [OR]=11.8 vs. 6.2; P=0.0008).…”