Tyrosinase gene family and Vogt-Koyanagi-Harada disease inJapanese patients

[摘要] Purpose: The aim of the present study was to examine the geneticbackground of Vogt-Koyanagi-Harada (VKH) disease in a Japanesepopulation by analyzing the tyrosinase gene family (TYR, TYRP1, anddopachrome tautomerase (DCT)).Methods: 87 VKH patients and 122 healthy controls were genotypedusing seven microsatellite markers on the candidate loci. We analyzedmicrosatellite (MS) polymorphisms at regions within tyrosinase genefamily loci. In addition, the haplotype frequencies were also estimatedand statistical analysis was performed. HLA-DRB1 genotyping wasperformed 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 diseasecompared with the healthy controls (Pc=0.000000079), as expected.Conclusions: We concluded that there is no genetic susceptibility orincreased risk attributed to the tyrosinase gene family. Our resultssuggest the need for further genetic study and encourage a search fornovel genetic loci and predisposing genes in order to elucidate thegenetic mechanisms underlying VKH disease.

[学科分类] 生物化学/生物物理