Miki Akiko, Honda Shigeru, Kondo Naoshi, Negi Akira
Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
Ophthalmic Genet. 2013 Sep;34(3):146-50. doi: 10.3109/13816810.2012.749288. Epub 2013 Jan 4.
To compare the association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).
We included 175 Japanese patients with PCV and 150 age- and sex-matched controls. PCV was classified into two phenotypes (Type 1 and Type 2) according to the presence or absence of the feeding vessels found in indocyanine-green angiography. The single nucleotide polymorphism (SNP) at rs10490924 (A69S) in ARMS2 and rs800292 (I62V), rs1061170 (Y402H) in the CFH region were genotyped using the TaqMan assay.
The minor allele frequency (MAF) of rs10490924 was significantly different between Type 1 PCV (n = 81) and control (p < 0.0001), while no difference was found between Type 2 PCV (n = 94) and control (p = 0.20). The MAF of rs800292 was significantly different between each type of PCV and control (p < 0.0001 and 0.0001 for Type 1 versus control and Type 2 versus control, respectively). The MAF of rs1061170 was not significantly different between either type of PCV and control (p = 0.084 and 0.15, respectively).
There may be significantly different associations in the genetic variants of ARMS2 between two angiographic phenotypes of PCV.
比较息肉状脉络膜血管病变（PCV）两种不同血管造影表型之间年龄相关性黄斑病变易感性2（ARMS2）和补体因子H（CFH）基因变异的关联。
我们纳入了175例日本PCV患者和150例年龄及性别匹配的对照。根据吲哚菁绿血管造影中是否存在供血血管，将PCV分为两种表型（1型和2型）。使用TaqMan分析法对ARMS2基因中rs10490924（A69S）的单核苷酸多态性（SNP）以及CFH区域中的rs800292（I62V）、rs1061170（Y402H）进行基因分型。
rs10490924的次要等位基因频率（MAF）在1型PCV（n = 81）与对照组之间存在显著差异（p < 0.0001），而在2型PCV（n = 94）与对照组之间未发现差异（p = 0.20）。rs800292的MAF在每种类型的PCV与对照组之间均存在显著差异（1型与对照组、2型与对照组相比，p分别< 0.0001和0.0001）。rs1061170的MAF在任何一种类型的PCV与对照组之间均无显著差异（p分别为0.084和0.15）。
PCV的两种血管造影表型之间，ARMS2基因变异可能存在显著不同的关联。
