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

Ocul Immunol Inflamm. 2019;27(5):699-705. doi: 10.1080/09273948.2018.1523438. Epub 2018 Nov 5.

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: Vogt-Koyanagi-Harada disease; association study; single nucleotide polymorphism; susceptibility gene.

MeSH terms

  • Adult
  • Armadillo Domain Proteins / genetics*
  • Asian People / genetics
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Uveomeningoencephalitic Syndrome / genetics*

Substances

  • ARMC9 protein, human
  • Armadillo Domain Proteins