Association Study of ARMC9 Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients

Tomoko Ohno, Akira Meguro, Masaki Takeuchi, Takahiro Yamane, Takeshi Teshigawara, Nobuyoshi Kitaichi, Yukihiro Horie, Kenichi Namba, Shigeaki Ohno, Kumiko Nakao, Taiji Sakamoto, Tsutomu Sakai, Tadashi Nakano, Hiroshi Keino, Annabelle A. Okada, Atsunobu Takeda, Takako Fukuhara, Hisashi Mashimo, Nobuyuki Ohguro, Shinichirou OonoHiroshi Enaida, Satoshi Okinami, Nobuhisa Mizuki

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Purpose: To investigate whether variants in the ARMC9 gene encoding KU-MEL-1 are associated with Vogt-Koyanagi-Harada (VKH) disease in a Japanese population. Methods: We recruited 380 Japanese patients with VKH disease and 744 Japanese healthy controls to genotype seven single-nucleotide polymorphisms (SNPs) in ARMC9. We also performed imputation analysis of the ARMC9 region and 195 imputed SNPs were included in the statistical analysis. Results: We observed an increased frequency of the A allele of rs28690417 in patients compared with controls (P = 0.0097, odds ratio (OR) = 1.46). The A allele had a dominant effect on VKH disease risk (P = 0.011, OR = 1.51). However, these significant differences disappeared after Bonferroni correction (corrected P > 0.05). The remaining 201 SNPs did not show any significant association with disease risk. Conclusions: Our study suggests that ARMC9 variants do not play a critical role in the development of VKH disease.

Original languageEnglish
Pages (from-to)699-705
Number of pages7
JournalOcular Immunology and Inflammation
Issue number5
Publication statusPublished - 2019

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Ophthalmology


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