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在韩国人群中,多形性脉络膜血管病变中 VEGF-A 的多态性。

Polymorphisms in the VEGF-A in polypoidal choroidal vasculopathy in a Korean population.

机构信息

Department of Ophthalmology, School of Medicine, Kyungpook National University, #50 Samduk-dong-2-ga, Jung-gu, Daegu, 700-721, South Korea.

出版信息

Jpn J Ophthalmol. 2012 Mar;56(2):145-51. doi: 10.1007/s10384-012-0119-6. Epub 2012 Feb 4.

Abstract

PURPOSE

The aim of this study was to investigate whether polymorphisms in the vascular endothelial growth factor A gene (VEGF-A) are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and whether they are associated with PCV phenotypes.

METHODS

This was a case-control study comprising 111 patients with PCV and 123 control participants. The PCV and control groups were genotyped for five polymorphisms in VEGF-A. Clinical characteristics were evaluated, including best-corrected visual acuity, fundus findings, and angiography findings at the first visit. Main outcome measures were the genotypes of variants and association with phenotypes.

RESULTS

Only rs833069 in VEGF-A generated significant allelic associations with PCV (P = 2.24 × 10(-5)). As compared with the AA group, the GG genotype group in rs833069 had a 6.25-fold increased risk of PCV [P = 7.45 × 10(-5), 95% confidence interval (CI) 2.52-15.46] and the AG group had a 1.82-fold increased risk (P = 0.029, 95% CI 1.03-3.24). The haplotype CCGC in VEGF-A showed an association with PCV (P = 2.90 × 10(-5)). However, the phenotypic characteristics of PCV did not show an association with the rs833069 genotypes.

CONCLUSIONS

The rs833069 polymorphism in VEGF-A was significantly associated with the risk of PCV in a Korean population.

摘要

目的

本研究旨在探讨血管内皮生长因子 A 基因(VEGF-A)多态性是否与韩国人群中的息肉样脉络膜血管病变(PCV)相关,以及它们是否与 PCV 表型相关。

方法

这是一项病例对照研究,包括 111 例 PCV 患者和 123 名对照参与者。对 VEGF-A 的五个多态性进行了基因分型。评估了临床特征,包括最佳矫正视力、眼底发现和首次就诊时的血管造影发现。主要观察指标是变体的基因型和与表型的关联。

结果

仅 VEGF-A 中的 rs833069 产生了与 PCV 显著的等位基因关联(P=2.24×10(-5))。与 AA 组相比,rs833069 中的 GG 基因型组患 PCV 的风险增加了 6.25 倍[P=7.45×10(-5),95%置信区间(CI)2.52-15.46],AG 组的风险增加了 1.82 倍(P=0.029,95%CI 1.03-3.24)。VEGF-A 中的 CCGC 单倍型与 PCV 相关(P=2.90×10(-5))。然而,PCV 的表型特征与 rs833069 基因型无关。

结论

VEGF-A 中的 rs833069 多态性与韩国人群中 PCV 的风险显著相关。

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