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Filaggrin Gene Mutations in Asian Races

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Filaggrin

Abstract

A total of 51 null mutations (28 nonsense mutations, 19 frameshift mutations, and 4 insertion mutations) in the filaggrin gene (FLG) have been identified in individuals with ichthyosis vulgaris, atopic dermatitis, or asthma from seven Asian populations (Japanese, mainland Chinese, Singaporean Chinese, Taiwanese, Korean, Pakistani, and Bangladeshi). The FLG mutation landscape in Asian individuals not only is different from European populations but also varies from each other. Thirty-nine (76.5 %) of 51 mutations are population-specific or family-specific. The mutation 3321delA has been found and demonstrated to be prevalent in five Asian populations (Japanese, Singaporean Chinese, mainland Chinese, Taiwanese, and Korean). In addition, the mutations S2554X, S2889X, and S3296X are common and specific to the Japanese; the relatively more prevalent mutations among Singaporean Chinese are G323X, S1515X, c.6950_6957del8, Q2417X, and E2422X. Another common mutation in mainland Chinese is K4671X, which was named as K4021X with a lower frequency in Japanese. Of note, two prevalent mutations (2282del4 and R501X) among European population were also prevalent in Bangladeshi and Pakistani, who share a common lineage with Europeans. This chapter reviews the spectrum of FLG mutations among seven Asian populations.

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References

  1. Zhang H, Guo Y, Wang W, Shi M, Chen X, Yao Z. Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. Allergy. 2011;66:420–7.

    Article  CAS  PubMed  Google Scholar 

  2. Li M, Liu Q, Liu J, Cheng R, Zhang H, Xue H, et al. Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis. J Eur Acad Dermatol Venereol. 2013;27:169–74.

    Article  CAS  PubMed  Google Scholar 

  3. Hsu CK, Akiyama M, Nemoto-Hasebe I, Nomura T, Sandilands A, Chao SC, et al. Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. Br J Dermatol. 2009;161:448–51.

    Article  CAS  PubMed  Google Scholar 

  4. Chen H, Common JE, Haines RL, Balakrishnan A, Brown SJ, Goh CS, et al. Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. Br J Dermatol. 2011;165:106–14.

    Article  CAS  PubMed  Google Scholar 

  5. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol. 2008;128:1436–41.

    Article  CAS  PubMed  Google Scholar 

  6. Imoto Y, Enomoto H, Fujieda S, Okamoto M, Sakashita M, Susuki D, et al. S2554X mutation in the filaggrin gene is associated with allergen sensitization in the Japanese population. J Allergy Clin Immunol. 2010;125:498–500 e2.

    Article  CAS  PubMed  Google Scholar 

  7. Lee DE, Park SY, Han JY, Ryu HM, Lee HC, Han YS. Association between filaggrin mutations and atopic dermatitis in Korean pregnant women. Int J Dermatol. 2013;52(6):772–3.

    Article  PubMed  Google Scholar 

  8. Ching GK, Hon KL, Ng PC, Leung TF. Filaggrin null mutations in childhood atopic dermatitis among the Chinese. Int J Immunogenet. 2009;36:251–4.

    Article  CAS  PubMed  Google Scholar 

  9. Samdani AJ, Naz N, Ahmed N. Molecular studies of ichthyosis vulgaris in Pakistani families. J Coll Physicians Surg Pak. 2010;20:644–8.

    PubMed  Google Scholar 

  10. Sinclair C, O’Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, et al. Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. Br J Dermatol. 2009;160:1113–5.

    Article  CAS  PubMed  Google Scholar 

  11. Zhang H, Guo Y, Wang W, Yu X, Yao Z. Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. Allergy. 2011;66:1253–4.

    Article  CAS  PubMed  Google Scholar 

  12. Chen H, Ho JC, Sandilands A, Chan YC, Giam YC, Evans AT, et al. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol. 2008;128:1669–75.

    Article  CAS  PubMed  Google Scholar 

  13. Naz N, Samdani AJ. Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. J Coll Physicians Surg Pak. 2011;21:382–3.

    PubMed  Google Scholar 

  14. Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WH, Shimizu H. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol. 2009;161:1387–90.

    Article  CAS  PubMed  Google Scholar 

  15. Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol. 2007;119:434–40.

    Article  CAS  PubMed  Google Scholar 

  16. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, et al. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol. 2009;129:1302–5.

    Article  CAS  PubMed  Google Scholar 

  17. Li M, Cheng R, Shi M, Liu J, Zhang G, Liu Q, et al. Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris and atopic dermatitis associated ichthyosis vulgaris. Br J Dermatol. 2013;168(6):1335–8.

    Article  CAS  PubMed  Google Scholar 

  18. Xiong Z, Luo S, Xu X, Zhang L, Peng H, Li W, et al. Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. Clin Exp Dermatol. 2012;37:177–80.

    Article  CAS  PubMed  Google Scholar 

  19. Zhang X, Liu S, Chen X, Zhou B, Liu D, Lei G, et al. Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. Br J Dermatol. 2010;163:63–9.

    CAS  PubMed  Google Scholar 

  20. Li M, Chen X, Chen R, Bao Y, Yao Z. Filaggrin gene mutations are associated with independent atopic asthma in Chinese patients. Allergy. 2011;66:1616–7.

    Article  CAS  PubMed  Google Scholar 

  21. Enomoto H, Hirata K, Otsuka K, Kawai T, Takahashi T, Hirota T, et al. Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. J Hum Genet. 2008;53:615–21.

    Article  CAS  PubMed  Google Scholar 

  22. Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, et al. De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol. 2008;128:1323–5.

    Article  CAS  PubMed  Google Scholar 

  23. Osawa R, Konno S, Akiyama M, Nemoto-Hasebe I, Nomura T, Nomura Y, et al. Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. J Invest Dermatol. 2010;130:2834–6.

    Article  CAS  PubMed  Google Scholar 

  24. Cheng R, Li M, Zhang H, Guo Y, Chen X, Tao J, et al. Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study. PLoS One. 2012;7:e49158.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  25. Kang TW, Lee JS, Oh SW, Kim SC. Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. Dermatology. 2009;218:186–7.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, Shanghai Shanghai, 200092, China

    Ruhong Cheng MD, Ming Li MD, Hui Zhang MD & Zhirong Yao MD

Authors
  1. Ruhong Cheng MD
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  2. Ming Li MD
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  3. Hui Zhang MD
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  4. Zhirong Yao MD
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Corresponding author

Correspondence to Zhirong Yao MD .

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Editors and Affiliations

  1. Department of Dermato-Allergology, National Allergy Research Centre, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

    Jacob P. Thyssen

  2. Department of Dermatology, University of California, San Francisco, California, USA

    Howard I. Maibach

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© 2014 Springer-Verlag Berlin Heidelberg

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Cheng, R., Li, M., Zhang, H., Yao, Z. (2014). Filaggrin Gene Mutations in Asian Races. In: Thyssen, J., Maibach, H. (eds) Filaggrin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54379-1_13

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  • DOI: https://doi.org/10.1007/978-3-642-54379-1_13

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-54378-4

  • Online ISBN: 978-3-642-54379-1

  • eBook Packages: MedicineMedicine (R0)

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