ORAI1 genetic polymorphisms associated with the susceptibility of atopic dermatitis in Japanese and Taiwanese populations

Wei-Chiao Chang, Chih-Hung Lee, Tomomitsu Hirota, Li-Fang Wang, Satoru Doi, Akihiko Miyatake, Tadao Enomoto, Kaori Tomita, Masafumi Sakashita, Takechiyo Yamada, Shigeharu Fujieda, Koji Ebe, Hidehisa Saeki, Satoshi Takeuchi, Masutaka Furue, Wei-Chiao Chen, Yi-Ching Chiu, Wei Pin Chang, Chien-Hui Hong, Edward HsiSuh-Hang Hank Juo, Hsin-Su Yu, Yusuke Nakamura, Mayumi Tamari

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29 Citations (Scopus)


Atopic dermatitis is a chronic inflammatory skin disease. Multiple genetic and environmental factors are thought to be responsible for susceptibility to AD. In this study, we collected 2,478 DNA samples including 209 AD patients and 729 control subjects from Taiwanese population and 513 AD patients and 1027 control subject from Japanese population for sequencing and genotyping ORAI1. A total of 14 genetic variants including 3 novel single-nucleotide polymorphisms (SNPs) in the ORAI1 gene were identified. Our results indicated that a non-synonymous SNP (rs3741596, Ser218Gly) associated with the susceptibility of AD in the Japanese population but not in the Taiwanese population. However, there is another SNP of ORAI1 (rs3741595) associated with the risk of AD in the Taiwanese population but not in the Japanese population. Taken together, our results indicated that genetic polymorphisms of ORAI1 are very likely to be involved in the susceptibility of AD.

Original languageEnglish
Article numbere29387
JournalPLoS One
Issue number1
Publication statusPublished - Jan 13 2012
Externally publishedYes


ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Chang, W-C., Lee, C-H., Hirota, T., Wang, L-F., Doi, S., Miyatake, A., Enomoto, T., Tomita, K., Sakashita, M., Yamada, T., Fujieda, S., Ebe, K., Saeki, H., Takeuchi, S., Furue, M., Chen, W-C., Chiu, Y-C., Chang, W. P., Hong, C-H., ... Tamari, M. (2012). ORAI1 genetic polymorphisms associated with the susceptibility of atopic dermatitis in Japanese and Taiwanese populations. PLoS One, 7(1), [e29387]. https://doi.org/10.1371/journal.pone.0029387