Yoneyama Seigo, Sakurada Yoichi, Kikushima Wataru, Sugiyama Atsushi, Tanabe Naohiko, Mabuchi Fumihiko, Kubota Takeo, Iijima Hiroyuki
Departments of *Ophthalmology, and †Epigenetics, Faculty of Medicine, University of Yamanashi, Kofu, Japan.
Retina. 2016 Aug;36(8):1535-41. doi: 10.1097/IAE.0000000000000964.
To investigate genetic factors associated with choroidal vascular hyperpermeability (CVH) and subfoveal choroidal thickness in eyes with treatment-naive polypoidal choroidal vasculopathy.
We studied 149 consecutive patients with polypoidal choroidal vasculopathy. The presence of CVH was evaluated using indocyanine green angiography. Subfoveal choroidal thickness and axial length were measured by spectral domain optical coherence tomography and optical biometry, respectively. Genotyping of three single nubleotide polymorphisms (SNPs), including age-related maculopathy susceptibility 2 (ARMS2) A69S (rs10490924), complement factor H (CFH) I62V (rs800292), and CFH (rs1329428), which are reportedly associated with central serous chorioretinopathy, was conducted using TaqMan technology.
Thicker subfoveal choroidal thickness was associated with younger age, shorter axial length, G-allele frequency in ARMS2 A69S (rs10490924), and T-allele frequency in CFH (rs1329428) (P = 0.001, P < 0.001, P = 0.004, and P = 0.002, respectively; multiple regression analysis). Among 149 eyes with polypoidal choroidal vasculopathy, 35 eyes (23.5%) exhibited CVH on indocyanine green angiography. Patients with CVH had a significantly higher frequency of the G allele of ARMS2 A69S (rs10490924) and the T allele of CFH (rs1329428), which are reported to be risk alleles for central serous chorioretinopathy (P = 0.006 and P = 0.032, respectively; multivariate regression analysis).
Subfoveal choroidal thickness and CVH in eyes with treatment-naive polypoidal choroidal vasculopathy were associated with ARMS2 A69S (rs10490924) and CFH (rs1329428).
研究初治息肉样脉络膜血管病变患者中与脉络膜血管高通透性（CVH）及黄斑中心凹下脉络膜厚度相关的遗传因素。
我们研究了149例连续的息肉样脉络膜血管病变患者。使用吲哚菁绿血管造影评估CVH的存在情况。分别通过光谱域光学相干断层扫描和光学生物测量法测量黄斑中心凹下脉络膜厚度和眼轴长度。采用TaqMan技术对三个单核苷酸多态性（SNP）进行基因分型，包括年龄相关性黄斑病变易感性2（ARMS2）A69S（rs10490924）、补体因子H（CFH）I62V（rs800292）以及CFH（rs1329428），据报道这些与中心性浆液性脉络膜视网膜病变相关。
黄斑中心凹下脉络膜厚度增厚与年龄较小、眼轴长度较短、ARMS2 A69S（rs10490924）的G等位基因频率以及CFH（rs1329428）的T等位基因频率相关（分别为P = 0.001、P < 0.001、P = 0.004和P = 0.002；多元回归分析）。在149例息肉样脉络膜血管病变眼中，35眼（23.5%）在吲哚菁绿血管造影上表现出CVH。CVH患者中ARMS2 A69S（rs10490924）的G等位基因和CFH（rs1329428）的T等位基因频率显著更高，据报道这两个等位基因是中心性浆液性脉络膜视网膜病变的风险等位基因（分别为P = 0.006和P = 0.032；多因素回归分析）。
初治息肉样脉络膜血管病变患者的黄斑中心凹下脉络膜厚度和CVH与ARMS2 A69S（rs10490924）和CFH（rs1329428）相关。
