Polymorphism of IFN-gamma gene and Vogt-Koyanagi-Harada disease.
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概要
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PURPOSE: Interferon-gamma (IFN-gamma) is a key cytokine in inflammatory disorders. Elevated aqueous and serum levels of IFN-gamma levels have been reported to be elevated in patients with Vogt-Koyanagi-Harada (VKH) disease. The aim of this study was to determine the IFN-gamma gene polymorphisms in VKH disease. METHODS: The study involved 136 VKH patients and 176 healthy controls, who were genotyped for functional single nucleotide polymorphism (SNP; rs2430561; A/T) and functional microsatellite (CA) repeats (rs3138557) in the first intron of the IFN-gamma gene. Moreover, clinical manifestations of the patients were also analyzed. RESULTS: Diffuse choroiditis/staining of fluorescein angiography was seen in all VKH patients in this study. Sunset glow fundus and nummular chorioretinal depigmented scars were observed in 83.9%, and 36.1% of the patients, respectively. Neurological and auditory disorders were observed in 90.1% of the patients: meningismus (79.8%), tinnitus (53.0%), and cerebrospinal fluid pleocytosis (70.0%). Dermatologic manifestations were observed in 22.9% of the patients, manifesting as alopecia (6.9%), poliosis (17.6%), and vitiligo (13.0%). In addition, 22.1% of the patients were classified as having complete VKH disease, while 65.4% as having incomplete VKH disease, and 12.5% as having probable VKH disease. There were no significant differences in the allele and genotype frequencies between VKH patients and healthy controls. In addition, we found no association between each clinical manifestation and SNP (re2430561) in the healthy control subject. A strong linkage disequilibrium (LD) was found in the functional SNP T allele and functional microsatellite 12 (CA) repeats (D'=0.96-0.99). CONCLUSIONS: The functional SNP T allele and microsatellite 12 (CA) repeats were found to have a strong LD, although a genetic susceptibility for the IFN-gamma gene could not be demonstrated among the Japanese VKH patients.
- Molecular Visionの論文
- 2007-12-21
著者
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Kosakai Yoshio
Department Of Cardiovascldar Surgery National Cardiovascudar Center
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Ohta Masaaki
Department Of Pediatrics Ehime Prefecturel Imabari Hospital
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Namba Kenichi
Department Of Ophthalmology And Visual Sciences Hokkaido University Graduate School Of Medicine
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Ohno Shigeaki
Department Of Ocular Inflammation And Immunology Hokkaido University Graduate School Of Medicine
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Ohno Shigeaki
Department Of Ophthalmology And Visual Sciences Hokkaido University Graduate School Of Medicine
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Mizuki Nobuko
Department Of Oral And Maxillofacial Surgery Yokohama City University Graduate School Of Medicine
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Kitaichi Nobuyoshi
Department Of Ophthalmology Hokkaido University Graduate School Of Medicine
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Inoko Hidetoshi
Dep. Of Molecular Life Sci. Tokai Univ. School Of Medicine
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Ota Masao
Dep. Of Legal Medicine Shinshu Univ. School Of Medicine
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Namba Kenichi
Department Of Ophthalmology Hokkaido University Graduate School Of Medicine
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Mochizuki Naoki
Research Institute National Cerebral And Cardiovascular Center
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Ohno S
Department Of Ocular Inflammation And Immunology Hokkaido University Graduate School Of Medicine
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Kitaichi Nobuyoshi
Department Of Ophthalmology Health Sciences University Of Hokkaido
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Horie Yukihiro
Department Of Ophthalmology Hokkaido University Graduate School Of Medicine
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Kaibara Nobuaki
Department Of Ophthalmology Hokkaido University Graduate School Of Medicine
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MIZUKI Nobuhisa
Yokohama City University Graduate School of Medicine
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Hara Yuji
Department Of Epidemiology Research Institute National Cardiovascular Center
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