May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Microsatellite Analysis of the Vogt-Koyanagi-Harada Disease at the Tyrosinase Gene Family Loci in Japanese Patients
Author Affiliations & Notes
  • Y. Horie
    Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • Y. Takemoto
    Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • A. Miyazaki
    Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • K. Namba
    Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • N. Mizuki
    Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Japan
  • S. Ohno
    Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • Footnotes
    Commercial Relationships Y. Horie, None; Y. Takemoto, None; A. Miyazaki, None; K. Namba, None; N. Mizuki, None; S. Ohno, None.
  • Footnotes
    Support Scientific Research from The Ministry of Education, Culture, Sports, Science, and Technology (MEXT)
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 4619. doi:
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      Y. Horie, Y. Takemoto, A. Miyazaki, K. Namba, N. Mizuki, S. Ohno; Microsatellite Analysis of the Vogt-Koyanagi-Harada Disease at the Tyrosinase Gene Family Loci in Japanese Patients. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4619.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose:: The aim of the present study is 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 six microsatellite markers on the candidate loci. We analyzed microsatellite (MS) polymorphisms at regions within tyrosinase gene family loci. In addition, HLA-DRB1 genotyping was performed by the PCR-restriction fragment length polymorphism (RFLP) method.

Results:: No significant evidence for an association was found among six microsatellite markers (minimum Pc=0.39). HLA-DRB1*0405 showed a highly significant association with VKH disease compared with the healthy controls (VKH 70.1% and healthy controls 28.7%, Relative Risk=5.83, 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.

Clinical Trial:: www.umin.ac.jp/ctr/index/htm

Keywords: genetics • uveitis-clinical/animal model 
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