Genotype-phenotype associations in filaggrin loss-of-function mutation carriers.

Abstract

BACKGROUND:

Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris.

OBJECTIVES:

To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG loss-of-function mutations.

MATERIALS AND METHODS:

In a prospective cohort study, genotype was determined for 459 study subjects for four FLG null alleles, and investigated for selected history, clinical and laboratory features.

RESULTS:

Overall, 68 patients showed a mutation in the FLG alleles R501X, R2447X, S3247X, and/or 2282del4. Flexural eczema, xerosis cutis, pityriasis alba, dirty neck, pulpitis sicca, hyperlinear palms, keratosis pilaris and family history of eczema were positively associated with FLG mutations (p < 0.05). Although we observed a statistically significant correlation with higher serum IgE in FLG mutation carriers, allergic rhinoconjunctivitis and allergic asthma were not over-represented in this group.

CONCLUSION:

This study shows further genotype-phenotype correlations in patients with occupational irritant contact eczema and FLG mutation carrier status. These features may help to identify those with FLG mutations on a specific phenotype basis.

• Authors: Lilla Landeck, Maaike Visser, Sanja Kezic, Swen M John
• Journal: Contact dermatitis (Contact Dermatitis) Vol. 68 Issue 3 Pg. 149-55 (Mar 2013) ISSN: 1600-0536 [Electronic] England
• PMID: 23421459 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 John Wiley & Sons A/S.

Chemical References

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

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Adult
• Aged
• Cohort Studies
• Darier Disease (genetics)
• Dermatitis, Irritant (genetics)
• Dermatitis, Occupational (genetics)
• Eyebrows (abnormalities)
• Female
• Filaggrin Proteins
• Genetic Association Studies
• Genetic Predisposition to Disease
• Humans
• Hyperpigmentation (genetics)
• Hypopigmentation (genetics)
• Immunoglobulin E (blood)
• Intermediate Filament Proteins (genetics)
• Male
• Middle Aged
• Mutation
• Prospective Studies
• Young Adult