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- Title
Simultaneous detection of barrier‐ and immune‐related gene variations in patients with atopic dermatitis by reverse blot hybridization assay.
- Authors
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.
- Abstract
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 (SNPs) in barrier‐ or immune‐related genes from Korean patients with AD and compare the variations with those observed in nonatopic healthy controls (HCs), 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, <italic>FLG</italic>,<italic> SPINK5</italic>,<italic> KLK7</italic>,<italic> DEFB1</italic>,<italic> TNF</italic>α, <italic>KDR</italic>,<italic> FCER1A, IL4, IL5,</italic><italic>IL5RA, IL</italic><italic>9, IL10, IL12</italic>,<italic> IL12R</italic>,<italic> IL13 and IL18</italic>, from Korean patients with AD, and compared the variation to that in nonatopic healthy controls. Results: The homozygous mutants of <italic>KLK7</italic> and <italic>SPINK5‐</italic>2475, and the heterozygous mutants of <italic>FLG</italic> 3321delA, <italic>SPINK5‐</italic>1156, <italic>DEFB1, KDR, IL5RA, IL9</italic> and <italic>IL12RB1</italic> 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 <italic>KLK7</italic> mutation and AD in Koreans, which is the first such report, to our knowledge.
- Subjects
HUMAN genetic variation; ATOPIC dermatitis; SINGLE nucleotide polymorphisms; IMMUNE response
- Publication
Clinical & Experimental Dermatology, 2018, Vol 43, Issue 4, p430
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/ced.13367