Simultaneous detection of barrier- and immune-related gene variations in patients with atopic dermatitis by reverse blot hybridization assay

N. Y. Yoon, H. Y. Wang, M. Jun, M. Jung, D. H. Kim, N. R. Lee, K. W. Hong, S. J. Seo, E. Choi, J. Lee, H. Lee, E. H. Choi

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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, FLG, SPINK5, KLK7, DEFB1, TNFα, KDR, FCER1A, IL4, IL5,IL5RA, IL9, IL10, IL12, IL12R, IL13 and IL18, from Korean patients with AD, and compared the variation to that in nonatopic healthy controls. Results: The homozygous mutants of KLK7 and SPINK5-2475, and the heterozygous mutants of FLG 3321delA, SPINK5-1156, DEFB1, KDR, IL5RA, IL9 and IL12RB1 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 KLK7 mutation and AD in Koreans, which is the first such report, to our knowledge.

Original languageEnglish
Pages (from-to)430-436
Number of pages7
JournalClinical and Experimental Dermatology
Issue number4
Publication statusPublished - 2018 Jun

Bibliographical note

Funding Information:
This research was supported by a grant of the Korea Healthcare Technology R&D Project through the Korean Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant no. HI14C2687).

Publisher Copyright:
© 2018 British Association of Dermatologists

All Science Journal Classification (ASJC) codes

  • Dermatology


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