Contact dermatitis · 2013
Genotype-phenotype associations in filaggrin loss-of-function mutation carriers.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Landeck Lilla, Visser Maaike, Kezic Sanja, John Swen M
Аннотация
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.
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.
Предметные рубрики MeSH
Abnormalities, MultipleAdolescentAdultAgedCohort StudiesDarier DiseaseDermatitis, IrritantDermatitis, OccupationalEyebrowsFemaleFilaggrin ProteinsGenetic Association StudiesGenetic Predisposition to DiseaseHumansHyperpigmentationHypopigmentationImmunoglobulin EIntermediate Filament ProteinsMaleMiddle AgedMutationProspective StudiesYoung Adult