An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients

Background: Research of the filaggrin(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 patients has been performed.

Objective: This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients.

Methods: The study was made up of three groups including 9 IV patients, 111 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and ichthyosis vulgaris. In comparison to other sequencing methods, the overlapping long-range PCR was used.

Results: We revealed the genetic polymorphism of FLG in Koreans, and at the same time, we discovered new nonsense mutations, p.Y1767X and c.526delA, while confirmed that the previously reported c.3321delA, c.3222del4, p.K4022X in Korean patients.

Conclusion: 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.