Rare occurrence of common filaggrin mutations in Turkish children with food allergy and atopic dermatitis

Turkish Journal of Medical Sciences
Neşe Vardar AcarCansin Saçkesen

Abstract

Filaggrin is a protein complex involved in epidermal differentiation and skin barrier formation. Mutations of the filaggrin gene (FLG) are associated with allergen sensitization and allergic diseases like atopic dermatitis (AD), allergic rhinitis, food allergy (FA), and asthma. The aim of the study is to reveal the frequency of change in the FLG gene and determine the association between FLG loss-of-function (LOF) mutations and FA and/or AD in Turkish children. Four FLG loss-of-function (LOF) mutations known to be common in European populations were analyzed in 128 healthy children, 405 food-allergic children with or without atopic dermatitis, and 61 children with atopic dermatitis. PCR-RFLP was performed for genotyping R501X, 2282del4, and R2447X mutations; S3247Xwas genotyped using a TaqMan-based allelic discrimination assay. Results were confirmed by DNA sequence analysis in 50 randomly chosen patients for all mutations. A total of 466 patients [(67% male, 1 (0.7–2.8) years] and 128 healthy controls [59% male, 2.4 (1.4–3.5) years)] were included in this study. Two patients were heterozygous carriers of wild-type R501X, but none of the controls carried this mutation. T...Continue Reading

Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

SPSS

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