Genetic Diversity of Filaggrin Mutation and Its Clinical Implication in East Asian Atopic Dermatitis Patients

Background: Since the report on the association of Filaggrin(FLG) mutations with atopic dermatitis(AD), genetic diversity of FLG mutation was intensively investigated for European and other ethnic populations. However, except for the well-established racial difference between European and Asian, detailed analysis on the genetic diversity and its clinical implication of FLGmutation for East Asian ancestry was not performed, yet.

Objectives: We study geographic distribution of FLG mutations in East Asia and evaluate clinical significance of FLG mutations in East Asian AD patients.

Methods: We summarized data related to FLG mutations across East Asian countries, and then analyzed geographic distribution of FLG mutations in the light of human migration history in East Asia, and finally, we investigated the clinical significance of FLGmutations in East Asian AD patients.

Results: Through the genealogical analysis on the genetic diversities found in FLG mutations across East Asia, we confirmed that the distribution of FLG mutations among East Asian populations was consistent with hypothetical waves of human migrations along the southeastern coast of Asia. Similar to Europeans, FLG mutations were significant risk factor of AD for East Asian and palmar hyperlinearity was a useful clinical marker in screening carriers of FLG mutation, however, in contrast to European, FLG mutations do not increase the risk of concomitant asthma for East Asian.

Conclusion: Genetic diversity of FLG mutation across East Asia is consistent with hypothetical waves of human migration along the costal border of East Asia. And European and Asian of FLG mutation have similarity and differences.