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Association Study of ARMC9 Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients
Authors:Tomoko Ohno  Masaki Takeuchi  Takahiro Yamane  Takeshi Teshigawara  Nobuyoshi Kitaichi
Affiliation:1. Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan;2. Yokosuka Chuoh Eye Clinic, Yokohama, Kanagawa, Japan;3. Tsurumi Chuoh Eye Clinic, Yokohama, Kanagawa, Japan;4. Department of Ophthalmology, Health Sciences University of Hokkaido, Sapporo, Hokkaido, Japan;5. Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan
Abstract: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.
Keywords:ARMC9  association study  single nucleotide polymorphism  susceptibility gene  Vogt-Koyanagi-Harada disease
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