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

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

ACKNOWLEDGMENTS

We thank all of the subjects for their participation in this study and all of the medical staff who helped with sample collection and diagnosis.

DECLARATION OF INTEREST

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.