Presentation: Barrier Related Gene Mutations in Atopic Dermatitis ( World Allergy Congress)

Wednesday, 14 October 2015

Hall D1 Foyer (Floor 3) (Coex Convention Center)

Na Young Yoon, MD , Dermatology, Yonsei University Wonju College of Medicine, Wonju, South Korea

Hye-Young Wang, PhD , M&d, Inc, Wonju, South Korea

Minyoung Jung, PhD , Dermatology, Yonsei University Wonju College of Medicine, Wonju, South Korea

Dong Hye Kim , Dermatology, Yonsei University Wonju College of Medicine, Wonju, South Korea

Seong Jun Seo, MD.PhD. , Department of Dermatology, Chung-Ang University Hospital, Seoul, South Korea

Eunhee Choi, PhD , Institute of Lifestyle Medicine, Wonju, South Korea

Hyeyoung Lee, PhD , Department of Biomedical Laboratory Science, College of Health Sciences, Wonju, South Korea

Eung Ho Choi, MD, PhD , Dermatology, Yonsei University Wonju College of Medicine, Wonju, South Korea

Background: Hereditary factors of atopic dermatitis(AD) have been emphasized recently. AD-related gene mutations vary significantly across ethnicities. We tried to find mutations in FLG, SPINK5 and KLK7 genes from Korean AD patients and we aimed to develop a reverse blot hybridization assay(REBA) to apply to AD-related genes for the first time.

Methods: We divided the AD subjects into moderate to severe AD and mild AD groups and also divided them into extrinsic and intrinsic AD groups. We checked on gene mutations using the REBA in AD and non-atopy control subjects.

Results: The mutant type(MT) of KLK7 was significantly more frequent in AD subjects than in control and higher in the moderate to severe group compared to the mild group. The MT frequency was not different between the intrinsic and extrinsic AD groups. In the SPINK5mutation, AD subjects more frequently had the mixed type of 603-49A>T(Glu335Val), the MT of 1188T>C(His396His) and 2475G>T(Glu825Asp) compared to control, but there was no difference between intrinsic and extrinsic AD. Among AD subjects, the moderate to severe AD group had more gene mutations compared to the mild group.

Conclusion: We found a correlation between the KLK7 mutation, the mutations in 1188T>C and 2475G>T, and 603-49A>T of SPINK5and AD which have not been reported in Asians including Koreans. Above all things, we verified that the REBA can be applied to detect multiple barrier-related gene mutations in AD easily, simply, and accurately.

1110 Barrier Related Gene Mutations in Atopic Dermatitis