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 (PÂ =Â 0.0097, odds ratio (OR)Â =Â 1.46). The A allele had a dominant effect on VKH disease risk (PÂ =Â 0.011, ORÂ =Â 1.51). However, these significant differences disappeared after Bonferroni correction (corrected PÂ >Â 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: , Vogt-Koyanagi-Harada disease, association study, single nucleotide polymorphism, susceptibility gene