青光眼与A型内皮素受体基因多态性之间的关联。

Association between glaucoma and gene polymorphism of endothelin type A receptor.

作者信息

Ishikawa Karin, Funayama Tomoyo, Ohtake Yuichiro, Kimura Itaru, Ideta Hidenao, Nakamoto Kenji, Yasuda Noriko, Fukuchi Takeo, Fujimaki Takuro, Murakami Akira, Asaoka Ryo, Hotta Yoshihiro, Kanamoto Takashi, Tanihara Hidenobu, Miyaki Koichi, Mashima Yukihiko

机构信息

Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.

出版信息

Mol Vis. 2005 Jun 23;11:431-7.

PMID:15988412

Abstract

PURPOSE

Endothelin 1 (ET-1), a potent vasoconstrictor, may affect regulation of intraocular pressure and ocular vessel tone. Thus, ET-1 and its receptors may contribute to development of glaucoma. We investigated whether gene polymorphisms of ET-1 (EDN1) and its receptors ETA (EDNRA) and ETB (EDNRB) were associated with glaucoma phenotypes and clinical features.

METHODS

We studied 224 normal Japanese controls and 426 open angle glaucoma (OAG) patients including 176 with primary open angle glaucoma (POAG) and 250 with normal tension glaucoma (NTG). Nine single nucleotide polymorphisms were detected among the participants using the Invader assay; four for EDN1 (T-1370G, +138/ex1 del/ins, G8002A, K198N), four for EDNRA (G-231A, H323H, C+70G, C+1222T), and one for EDNRB (L277L). Genotype distributions were compared between normal controls and OAG. Age at diagnosis, untreated maximum intraocular pressure (IOP), and visual field defects at diagnosis were examined for association with polymorphisms.

RESULTS

Of the 9 polymorphisms, genotype distributions showed no significant differences between OAG patients and controls adjusted by age. The GG genotype of EDNRA/C+70G was associated with worse visual field defects in NTG patients (p=0.014; Mann-Whitney U test, and p=0.027; logistic regression analysis).

CONCLUSIONS

The polymorphism of EDNRA/C+70G may be related to NTG risk factors.

摘要

目的

内皮素1（ET-1）是一种强效血管收缩剂，可能影响眼压调节和眼血管张力。因此，ET-1及其受体可能与青光眼的发生发展有关。我们研究了ET-1（EDN1）及其受体ETA（EDNRA）和ETB（EDNRB）的基因多态性是否与青光眼的表型和临床特征相关。

方法

我们研究了224名正常日本对照者和426名开角型青光眼（OAG）患者，其中包括176名原发性开角型青光眼（POAG）患者和250名正常眼压性青光眼（NTG）患者。使用侵入法在参与者中检测了9个单核苷酸多态性；EDN1有4个（T-1370G、+138/ex1缺失/插入、G8002A、K198N），EDNRA有4个（G-231A、H323H、C+70G、C+1222T），EDNRB有1个（L277L）。比较了正常对照者和OAG患者之间的基因型分布。检查了诊断时的年龄、未经治疗的最大眼压（IOP）以及诊断时的视野缺损与多态性的相关性。