Department of Ophthalmology, School of Medicine, Kyungpook National University, #50 Samduk-dong-2-ga, Jung-gu, Daegu 700-721, South Korea.
Jpn J Ophthalmol. 2012 Jan;56(1):60-7. doi: 10.1007/s10384-011-0089-0. Epub 2011 Sep 29.
To investigate whether ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and with various PCV phenotypes.
A case-control study comprised of 103 patients with PCV and 112 control subjects. The PCV and control groups were genotyped for ARMS2 (rs10490924) and HTRA1 (rs11200638) polymorphisms. Clinical characteristics were evaluated, including best-corrected visual acuity (BCVA), fundus findings, and angiographic findings, at first visit.
Two single nucleotide polymorphisms generated highly significant allelic associations with PCV. The frequency of vitreous hemorrhage (VH) was different among the genotypes with respect to both rs10490924 and rs11200638. The frequency of the T allele of rs10490924 was higher in PCV patients with VH than in PCV patients without VH. The frequency of the A allele of rs11200638 was higher in PCV patients with VH than in PCV patients without VH. In rs10490924, the mean BCVA of the GG genotype group was better than that of the TT and TG genotype groups. In rs11200638, the mean BCVA of the GG genotype group was better than that of the AA and AG genotype groups.
The ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are significantly associated with the risk of PCV in a Korean population. ARMS2/HTRA1 variants contribute significantly to the PCV phenotypes, including frequency of VH and mean BCVA at baseline.
调查 ARMS2(rs10490924)/HTRA1(rs11200638) 变异是否与韩国人群中的息肉状脉络膜血管病变(PCV)以及各种 PCV 表型相关。
这项病例对照研究纳入了 103 例 PCV 患者和 112 例对照者。对 PCV 组和对照组进行 ARMS2(rs10490924)和 HTRA1(rs11200638)多态性的基因分型。在首次就诊时评估了最佳矫正视力(BCVA)、眼底表现和血管造影表现等临床特征。
两个单核苷酸多态性与 PCV 具有显著的等位基因关联。rs10490924 和 rs11200638 基因型与玻璃体积血(VH)的发生率有关。携带 VH 的 PCV 患者中 rs10490924 的 T 等位基因频率高于不携带 VH 的 PCV 患者。携带 VH 的 PCV 患者中 rs11200638 的 A 等位基因频率高于不携带 VH 的 PCV 患者。在 rs10490924 中，GG 基因型组的平均 BCVA 优于 TT 和 TG 基因型组。在 rs11200638 中，GG 基因型组的平均 BCVA 优于 AA 和 AG 基因型组。
ARMS2(rs10490924)/HTRA1(rs11200638) 变异与韩国人群中 PCV 的风险显著相关。ARMS2/HTRA1 变异对 VH 的发生率和基线时的平均 BCVA 等 PCV 表型有显著影响。
