Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations

C-K. Hsu, M. Akiyama, I. Nemoto-Hasebe, T. Nomura, A. Sandilands, S-C. Chao, J. Y-Y. Lee, H-M. Sheu, W. H. I. McLean, H. Shimizu

    Research output: Contribution to journalArticle

    28 Citations (Scopus)

    Abstract

    Background

    Mutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population.

    Objectives

    To elucidate filaggrin mutations in the Taiwanese population and further to clarify the population genetics of filaggrin gene mutations in the Asian populations.

    Methods

    In the present study, 12 individuals from four unrelated Taiwanese IV families were examined for FLG mutations. We carried out comprehensive sequencing of the entire FLG coding region using an overlapping polymerase chain reaction strategy.

    Results

    We identified three FLG mutations in the Taiwanese IV families. One mutation E1795X was a previously unidentified FLG mutation, which might be specific to the Taiwanese. Interestingly, another FLG mutation 3321delA is prevalent in the Japanese population and the other mutation Q2417X was found in the Singaporean Chinese population. No FLG mutation identified in the white European population was found in the Taiwanese population.

    Conclusions

    The present findings suggest that the Taiwanese population, as an East Asian group, share FLG mutations with both the Japanese and the Singaporean Chinese population. In addition, these results exemplify differences in the population genetics of filaggrin between Europe and Asia.

    Original languageEnglish
    Pages (from-to)448-451
    Number of pages4
    JournalBritish Journal of Dermatology
    Volume161
    Issue number2
    DOIs
    Publication statusPublished - Aug 2009

    Keywords

    • atopic eczema
    • filaggrin
    • FLG
    • ichthyosis
    • mutation
    • ATOPIC-DERMATITIS
    • FILAGGRIN GENE
    • PREVALENT
    • BARRIER
    • UNIQUE
    • ECZEMA

    Cite this

    Hsu, C-K. ; Akiyama, M. ; Nemoto-Hasebe, I. ; Nomura, T. ; Sandilands, A. ; Chao, S-C. ; Lee, J. Y-Y. ; Sheu, H-M. ; McLean, W. H. I. ; Shimizu, H. / Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. In: British Journal of Dermatology. 2009 ; Vol. 161, No. 2. pp. 448-451.
    @article{567d76c031bf4cbaa69444558c317b73,
    title = "Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations",
    abstract = "BackgroundMutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population.ObjectivesTo elucidate filaggrin mutations in the Taiwanese population and further to clarify the population genetics of filaggrin gene mutations in the Asian populations.MethodsIn the present study, 12 individuals from four unrelated Taiwanese IV families were examined for FLG mutations. We carried out comprehensive sequencing of the entire FLG coding region using an overlapping polymerase chain reaction strategy.ResultsWe identified three FLG mutations in the Taiwanese IV families. One mutation E1795X was a previously unidentified FLG mutation, which might be specific to the Taiwanese. Interestingly, another FLG mutation 3321delA is prevalent in the Japanese population and the other mutation Q2417X was found in the Singaporean Chinese population. No FLG mutation identified in the white European population was found in the Taiwanese population.ConclusionsThe present findings suggest that the Taiwanese population, as an East Asian group, share FLG mutations with both the Japanese and the Singaporean Chinese population. In addition, these results exemplify differences in the population genetics of filaggrin between Europe and Asia.",
    keywords = "atopic eczema, filaggrin, FLG, ichthyosis, mutation, ATOPIC-DERMATITIS, FILAGGRIN GENE, PREVALENT, BARRIER, UNIQUE, ECZEMA",
    author = "C-K. Hsu and M. Akiyama and I. Nemoto-Hasebe and T. Nomura and A. Sandilands and S-C. Chao and Lee, {J. Y-Y.} and H-M. Sheu and McLean, {W. H. I.} and H. Shimizu",
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    Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. / Hsu, C-K.; Akiyama, M.; Nemoto-Hasebe, I.; Nomura, T.; Sandilands, A.; Chao, S-C.; Lee, J. Y-Y.; Sheu, H-M.; McLean, W. H. I.; Shimizu, H.

    In: British Journal of Dermatology, Vol. 161, No. 2, 08.2009, p. 448-451.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations

    AU - Hsu, C-K.

    AU - Akiyama, M.

    AU - Nemoto-Hasebe, I.

    AU - Nomura, T.

    AU - Sandilands, A.

    AU - Chao, S-C.

    AU - Lee, J. Y-Y.

    AU - Sheu, H-M.

    AU - McLean, W. H. I.

    AU - Shimizu, H.

    PY - 2009/8

    Y1 - 2009/8

    N2 - BackgroundMutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population.ObjectivesTo elucidate filaggrin mutations in the Taiwanese population and further to clarify the population genetics of filaggrin gene mutations in the Asian populations.MethodsIn the present study, 12 individuals from four unrelated Taiwanese IV families were examined for FLG mutations. We carried out comprehensive sequencing of the entire FLG coding region using an overlapping polymerase chain reaction strategy.ResultsWe identified three FLG mutations in the Taiwanese IV families. One mutation E1795X was a previously unidentified FLG mutation, which might be specific to the Taiwanese. Interestingly, another FLG mutation 3321delA is prevalent in the Japanese population and the other mutation Q2417X was found in the Singaporean Chinese population. No FLG mutation identified in the white European population was found in the Taiwanese population.ConclusionsThe present findings suggest that the Taiwanese population, as an East Asian group, share FLG mutations with both the Japanese and the Singaporean Chinese population. In addition, these results exemplify differences in the population genetics of filaggrin between Europe and Asia.

    AB - BackgroundMutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population.ObjectivesTo elucidate filaggrin mutations in the Taiwanese population and further to clarify the population genetics of filaggrin gene mutations in the Asian populations.MethodsIn the present study, 12 individuals from four unrelated Taiwanese IV families were examined for FLG mutations. We carried out comprehensive sequencing of the entire FLG coding region using an overlapping polymerase chain reaction strategy.ResultsWe identified three FLG mutations in the Taiwanese IV families. One mutation E1795X was a previously unidentified FLG mutation, which might be specific to the Taiwanese. Interestingly, another FLG mutation 3321delA is prevalent in the Japanese population and the other mutation Q2417X was found in the Singaporean Chinese population. No FLG mutation identified in the white European population was found in the Taiwanese population.ConclusionsThe present findings suggest that the Taiwanese population, as an East Asian group, share FLG mutations with both the Japanese and the Singaporean Chinese population. In addition, these results exemplify differences in the population genetics of filaggrin between Europe and Asia.

    KW - atopic eczema

    KW - filaggrin

    KW - FLG

    KW - ichthyosis

    KW - mutation

    KW - ATOPIC-DERMATITIS

    KW - FILAGGRIN GENE

    KW - PREVALENT

    KW - BARRIER

    KW - UNIQUE

    KW - ECZEMA

    U2 - 10.1111/j.1365-2133.2009.09112.x

    DO - 10.1111/j.1365-2133.2009.09112.x

    M3 - Article

    VL - 161

    SP - 448

    EP - 451

    JO - British Journal of Dermatology

    JF - British Journal of Dermatology

    SN - 0007-0963

    IS - 2

    ER -