Tyrosinase gene family and Vogt-Koyanagi-Harada disease in Japanese patients

Mol Vis. 2006 Dec 20;12:1601-5.


Purpose: The aim of the present study was to examine the genetic background of Vogt-Koyanagi-Harada (VKH) disease in a Japanese population by analyzing the tyrosinase gene family (TYR, TYRP1, and dopachrome tautomerase (DCT)).

Methods: 87 VKH patients and 122 healthy controls were genotyped using seven microsatellite markers on the candidate loci. We analyzed microsatellite (MS) polymorphisms at regions within tyrosinase gene family loci. In addition, the haplotype frequencies were also estimated and statistical analysis was performed. HLA-DRB1 genotyping was performed by the PCR-restriction fragment length polymorphism (RFLP) method.

Results: No significant evidence for an association was found. HLA-DRB1*0405 showed a highly significant association with VKH disease compared with the healthy controls (Pc=0.000000079), as expected.

Conclusions: We concluded that there is no genetic susceptibility or increased risk attributed to the tyrosinase gene family. Our results suggest the need for further genetic study and encourage a search for novel genetic loci and predisposing genes in order to elucidate the genetic mechanisms underlying VKH disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asians / genetics*
  • Chromosome Mapping
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • HLA-DR Antigens / genetics
  • HLA-DRB1 Chains
  • Haplotypes
  • Humans
  • Intramolecular Oxidoreductases / genetics*
  • Membrane Glycoproteins / genetics*
  • Microsatellite Repeats
  • Monophenol Monooxygenase / genetics*
  • Multigene Family
  • Oxidoreductases / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Uveomeningoencephalitic Syndrome / genetics*


  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • HLA-DRB1*04:05 antigen
  • Membrane Glycoproteins
  • Oxidoreductases
  • TYRP1 protein, human
  • Monophenol Monooxygenase
  • Intramolecular Oxidoreductases
  • dopachrome isomerase