Polymorphism of IFN-gamma gene and Vogt-Koyanagi-Harada disease.

Horie Yukihiro; Kitaichi Nobuyoshi; Takemoto Yuko; Namba Kenichi; Yoshida Kazuhiko; Hirose Shigeto; Hasumi Yukiko; Ota Masao; Inoko Hidetoshi; Mizuki Nobuhisa; Ohno Shigeaki

タイトル	en Polymorphism of IFN-gamma gene and Vogt-Koyanagi-Harada disease.
作成者	en Horie, Yukihiro en Kitaichi, Nobuyoshi NRID 1000040431366 en Takemoto, Yuko NRID 1000020443939 en Namba, Kenichi NRID 1000070333599 en Yoshida, Kazuhiko NRID 1000090281807 en Hirose, Shigeto en Hasumi, Yukiko en Ota, Masao en Inoko, Hidetoshi en Mizuki, Nobuhisa en Ohno, Shigeaki NRID 1000050002382
アクセス権	open access
権利情報	en Copyright (c) 2007 Molecular Vision
主題	NDC 496
内容注記	Abstract en 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.
出版者	en Molecular Vision
日付	Issued2007-12-21
言語	eng
資源タイプ	journal article
出版タイプ	VoR
資源識別子	HDL http://hdl.handle.net/2115/34401
関連	URI http://www.molvis.org/molvis/v13/a264/ PMID 18199975
収録誌情報	PISSN 1090-0535 EISSN 1090-0535 en Molecular Vision 巻13 開始ページ2334 終了ページ2338
ファイル	fulltext v13a264-horie.pdf 119.67 KB (application/pdf) Issued2007-12-21
コンテンツ更新日時	2023-07-26