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한국인 아토피피부염 환자에서의 필라그린 유전자 변이 여부에 따른 임상 양상 비교

Comparison of Clinical Features according to FLG Mutation in Korean Atopic Dermatitis Patients

대한피부과학회지 2019년 57권 7호 p.363 ~ 370
이한일 ( Lee Han-Il ) - 연세대학교 원주의과대학 피부과학교실

왕혜영 ( Wang Hye-young ) - 옵티팜
이혜영 ( Lee Hye-Young ) - 연세대학교 보건과학대학 임상병리학과
최응호 ( Choi Eung-Ho ) - 연세대학교 원주의과대학 피부과학교실


Background: Mutation in the gene encoding filaggrin (FLG) is a major predisposing factor for atopic dermatitis (AD), in association with distinct features such as increased allergic sensitization, higher severity, and frequent skin infections. Genetic diversity in FLG mutations exists across ethnicities.

Objective: This study aimed to investigate the clinical features of AD according to the presence of FLG mutation in Korean individuals.

Methods: We performed reverse blot hybridization assay to detect FLG mutation in Korean patients with AD.
Classifying subjects into AD with or without FLG mutation, clinical features of AD and patch test results were compared between the two groups.

Results: Among a total of 281 subjects, 39 (13.9%) were found to have FLG mutation. AD with FLG mutation was associated with higher risk of impetigo and eczema herpeticum but lower risk of prurigo nodularis. In the patch test, there was no difference in positive reactions of major contact allergens between the groups.

Conclusion: In Korean patients with AD, FLG mutation was associated with more frequent skin infections but not with personal or family history of atopic diseases, allergic sensitization, contact allergy, and protracted course. It is important to consider other skin-barrier-related genes, such as KLK7 and SPINK5, and immune response-related genes in conjunction.


Atopic dermatitis; Filaggrin; Skin barrier; Reverse blot hybridization assay
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