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

Thumbnail Image

Departments

Organizational Unit

School / College / Institute

Organizational Unit
SCHOOL OF MEDICINE
Upper Org Unit

Program

KU Authors

Co-Authors

Acar, Neşe Vardar
Cavkaytar, Özlem
Yılmaz, Ebru Arık
Büyüktiryaki, Betül
Soyer, Özge
Şahiner, Ümit Murat
Şekerel, Bülent Enis
Karaaslan, Çağatay

Publication Date

Language

Embargo Status

NO

Journal Title

Journal ISSN

Volume Title

Alternative Title

Abstract

Background/aim: filaggrin is a protein complex involved in epidermal differentiation and skin barrier formation. Mutations of the filaggrin gene (FLG) arc 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 FIG gene and determine the association between FIG loss-of-function (LOF) mutations and FA and/or AD in Turkish children. Materials and methods: four PLC loss-of-function (WO 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. PCRRFLP was performed for genotyping R501X, 2282del14, and R2447X mutations; 53247X was genotyped using a TaqMan-based allelic discrimination assay. Results were confirmed by DNA sequence analysis in 50 randomly chosen patients for all mutations. Results: 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. Three patients and one healthy control were heterozygous carriers of wild-type 2282del4. Neither patients nor controls carried R2447X or S3247X PLC mutations. There were no combined mutations determined in heterozygous mutation carriers. Conclusions: although R501X, 2282del4, R2447X, and S3247X mutations are very common in European populations, we found that FIG mutations were infrequent and there is no significant association with food allergy and/or atopic dermatitis in Turkish individuals.

Source

Publisher

TÜBİTAK

Subject

Medicine, General and internal medicine

Citation

Has Part

Source

Turkish Journal of Medical Sciences

Book Series Title

Edition

DOI

10.3906/sag-1910-162

item.page.datauri

Link

Rights

Copyrights Note

Endorsement

Review

Supplemented By

Referenced By

0

Views

2

Downloads

View PlumX Details