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An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients
박귀영,Kapsok Li,석준,서성준 대한의학회 2016 Journal of Korean medical science Vol.31 No.7
Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean atopic dermatitis (AD) patients has been performed. This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients. The study was made up of three groups including 9 Ichthyosis vulgaris (IV) patients, 50 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and IV. In comparison to other sequencing methods, the overlapping long-range PCR was used. We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. By using FLG sequencing techniques confirmed in this study, new mutations or genetic polymorphisms with ethnic characteristics would be detected and further larger studies of repeat number polymorphisms could be performed.
A Study on the Correlation of Skin Types with Genetic Factors and Environmental Factors in Koreans
박귀영,홍준기,신선혜,고영규,한혜성,문남주,안건영,서성준 대한피부과학회 2022 대한피부과학회지 Vol.60 No.4
Background: The Baumann skin type (BST) classification provides a new approach for clinical care of dermatologic patients. Objective: To investigate the correlation of skin types with genetic factors and environmental factors that have an important influence on Korean skin by comparing and analyzing the correlation between phenotype and genotype. Methods: From July to October 2016, 774 adults who visited the one online shopping mall were subjected to skin BST questionnaire and gene single-nucleotide polymorphism (SNP) tests. Oral epithelial cells of the subjects were collected using a Genoplan DNA analysis kit, and 14 genes were analyzed by a genetic analysis agency (Genoplan Inc., Fukuoka, Japan). Results: The most abundant skin type was OSNT (oily, sensitive, non-pigmented, tight) observed in 205 participants (26.5%). Of the filaggrin (FLG) SNPs, 143 participants (18.5%) had the GG (good) SNP; 391 (50.5%), GA (normal) SNP; and 240 (31.0%), AA (poor) SNP. Among those whose FLG SNP was GG (good), 121 (84.6%) were sensitive and 22 (15.4%) were resistant. Of those whose filaggrin (FLG) SNP was GA (normal), 337 (86.2%) were sensitive and 54 (13.8%) were resistant. Of those whose FLG SNP was AA (poor), 213 (88.8%) were sensitive and 27 (11.3%) were resistant. There was also a statistically significant difference in the fruit-vegetable consumption and use of a sunbathing bed between sensitive and resistant type in the groups that classified the FLG SNP as GA. Conclusion: This is the first study to investigate the association of BST with genetic factors and environmental factors.
박귀영,박미경,김은주,이미경,서성준 대한의학회 2011 Journal of Korean medical science Vol.26 No.7
IgE-dependent activation of mast cells and basophils through the high-affinity IgE receptor (FcεRI) is involved in the pathogenesis of allergen-induced immune responsiveness in atopic diseases like atopic dermatitis (AD). We sought to determine FcεRI gene polymorphisms are associated with AD in Korean patients, and analyzed the relevance of FcεRI gene polymorphisms and serum IgE levels. We conducted a case-control association analysis (175 patients and 56 controls) of Korean subjects. Genotyping was performed using the TaqMan fluorogenic 5´ nuclease assay, and serum levels of IgE were measured using a fluorescence enzyme immunoassay. We found that there were no significant relationships between FcεRI and AD, although there were trends towards an association between the 66T>C (rs2251746) polymorphism and total serum IgE levels in the Korean AD patients. In conclusion, while the 66T>C (rs2251746) of the FcεRIα polymorphism may be linked to AD and higher serum IgE levels, polymorphisms in the FcεRIβ gene did not confer susceptibility to AD in our patient sample.
박귀영,김동하,정미숙,이갑석,서성준 대한의학회 2010 Journal of Korean medical science Vol.25 No.5
Increased transepidermal water loss (TEWL) and downregulated antimicrobial peptides (AMPs) are observed in patients with atopic dermatitis (AD). Tacrolimus and ceramide-dominant emollients are effective in the treatment of AD by preventing the production of inflammatory cytokines and by correcting skin barrier dysfunctions,respectively. Present study was designed to investigate the relationship between antimicrobial and barrier factors by measuring the changes of AMPs and TEWL after topical application of tacrolimus and ceramide-dominant emollient in the patients with AD. A total of three patients with AD were treated with tacrolimus in one lesion and ceramide-dominant emollient in another lesion for 4 weeks. RT-PCR and western blotting revealed that the mRNA and protein expression levels of hBD-2 and LL-37 were increased on the both study sites. Immunohistochemical analysis showed significant increase of AMPs and IL-1a, while, IL-4 was decreased on the both study sites. The mean changes of TEWL and AMPs showed no statistical difference between both sites. Tacrolimus and ceramide-dominant emollient influence on both TEWL and AMPs expression in patients with AD, namely they have similar effects on both of the two. This study shows that restoration of permeability barrier function is accompanied by the concomitant improvement of antimicrobial defense in patients with AD.
Safety Evaluation of Stamp Type Digital Microneedle Devices in Hairless Mice
박귀영,김범준,장우선,임윤영,안주희,김명남,이상진,김찬웅,김성은 대한피부과학회 2013 Annals of Dermatology Vol.25 No.1
Background: Microneedles provide a minimally invasive means to transport molecules into the skin. A number of specific strategies have been employed to use microneedles for transdermal delivery. Objective: The purpose of this study was to investigate the safety of two new digital microneedle devices (Digital HandⓇ and Digital ProⓇ; Bomtech Electronics Co., Ltd., Seoul, Korea) for the perforation of skin in skin-hairless-1 mice. This device replaces conventional needles and is designed specifically for intradermal delivery. Methods: We used two newly developed digital microneedle devices to perforate the skin of skin-hairless-1 mice. We conducted a comparative study of the two digital microneedle devices and DTSⓇ (Disk type-microneedle Therapy System; DTS lab., Seoul, Korea). To evaluate skin stability, we performed visual and dermatoscopic inspections, measurements of transepidermal water loss, and biopsies. Results: The two novel digital microneedle devices did not induce significant abnormalities of the skin on visual or dermatoscopic inspection, regardless of needle size (0.25∼2.0 mm). No significant histopathological changes, such as inflammatory cell infiltration, desquamation of the stratum corneum, or disruption of the basal layer, were observed. The digital microneedle devices and microneedle therapy system produced similar results on measures of skin stability. Conclusion: These two novel digital microneedle devices are safe transdermal drug delivery systems.