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Simultaneous detection of barrier‐ and immune‐related gene variations in patients with atopic dermatitis by reverse blot hybridization assay
Author(s) -
Yoon N. Y.,
Wang H. Y.,
Jun M.,
Jung M.,
Kim D. H.,
Lee N. R.,
Hong K.W.,
Seo S. J.,
Choi E.,
Lee J.,
Lee H.,
Choi E. H.
Publication year - 2018
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13367
Subject(s) - single nucleotide polymorphism , immunology , atopic dermatitis , biology , gene , immune system , genetics , pathogenesis , atopy , microbiology and biotechnology , allergy , genotype
Summary Background Hereditary factors are involved in the pathogenesis of atopic dermatitis ( AD ). However, AD ‐related gene variations are significantly different across ethnicities. Aim To identify mutations and single‐nucleotide polymorphisms ( SNP s) in barrier‐ or immune‐related genes from Korean patients with AD and compare the variations with those observed in nonatopic healthy controls ( HC s), and to use novel reverse blot hybridization assay ( REBA ) for AD ‐related gene variants. Methods We carried out REBA to simultaneously detect variations in genes related to barrier or immune function, namely, FLG , SPINK 5 , KLK 7 , DEFB 1 , TNF α, KDR , FCER 1A, IL 4, IL 5, IL5RA, IL 9, IL 10, IL12 , IL12R , IL 13 and IL 18 , from Korean patients with AD , and compared the variation to that in nonatopic healthy controls. Results The homozygous mutants of KLK 7 and SPINK 5‐ 2475, and the heterozygous mutants of FLG 3321delA, SPINK 5‐ 1156, DEFB 1, KDR , IL 5 RA , IL 9 and IL 12 RB 1 were significantly more frequent in AD . It has been predicted that the larger the number of gene variants, the higher the odds ratio of AD prevalence; however, we did not find any significant correlation between the number of gene variants and AD severity. Conclusion Using REBA , we identified more genetic variants that can predict AD occurrence. We also verified that REBA can be used to easily and accurately detect multiple AD ‐related gene variants simultaneously. In addition, we identified a correlation between KLK 7 mutation and AD in Koreans, which is the first such report, to our knowledge.