Chantaren Patchima, Ruamviboonsuk Paisan, Ponglikitmongkol Mathurose, Tiensuwan Montip, Promso Somying
Department of Ophthalmology, Rajavithi Hospital, Bangkok.
Clin Ophthalmol. 2012;6:465-71. doi: 10.2147/OPTH.S30529. Epub 2012 Mar 22.
To investigate the association in a Thai population between the major age-related macular degeneration (AMD) susceptibility loci, Y402H and I62V in the complement factor H (CFH) and A69S in the age-related maculopathy susceptibility 2 (ARMS2) genes, and polypoidal choroidal vasculopathy (PCV).
A case-control study included 97 PCV cases and 102 age- and gender-matched controls without any retinopathy. The genotypic profiles of the three polymorphisms were obtained using a real-time polymerase chain reaction assay. The allelic and genotypic association between the polymorphisms and PCV were compared with those from the compiled data of other Asian populations reported previously.
Strong associations between the Y402H, I62V, and A69S polymorphisms and PCV were observed in the present study (P = 0.002, 0.003, and 0.0008 respectively) and in the compiled data (P < 0.0001 for all three polymorphisms). The risk allele frequencies of the polymorphisms in PCVs and in controls from the present study (15.0% and 5.4% for Y402H, 71.7% and 57.4% for I62V, and 54.1% and 37.3% for A69S respectively) were also comparable with the frequencies from the compiled data (10.3% and 6.4% for Y402H, 75.2% and 58.3% for I62V, and 56.8% and 36.8% for A69S respectively). The genotype distribution for each polymorphism was also comparable in both datasets.
The findings of this study support a significant genetic association between the major AMD susceptibility genes and PCV across Asian populations. This suggests that AMD and PCV, despite different phenotypic manifestation, may share common genetic risk factors.
研究泰国人群中年龄相关性黄斑变性（AMD）主要易感基因座，即补体因子H（CFH）基因中的Y402H和I62V以及年龄相关性黄斑病变易感2（ARMS2）基因中的A69S与息肉样脉络膜血管病变（PCV）之间的关联。
一项病例对照研究纳入了97例PCV患者和102例年龄及性别匹配、无任何视网膜病变的对照者。采用实时聚合酶链反应检测法获取这三种多态性的基因型谱。将这些多态性与PCV之间的等位基因和基因型关联与先前报道的其他亚洲人群的汇总数据进行比较。
在本研究中观察到Y402H、I62V和A69S多态性与PCV之间存在强关联（P分别为0.002、0.003和0.0008），在汇总数据中也存在这种关联（所有三种多态性的P均<0.00）。本研究中PCV患者和对照者中这些多态性的风险等位基因频率（Y402H分别为15.0%和5.4%，I62V分别为71.7%和57.4%，A69S分别为54.1%和37.3%）也与汇总数据中的频率相当（Y402H分别为10.3%和6.4%，I62V分别为75.2%和58.3%，A69S分别为56.8%和36.%）。两个数据集中每种多态性的基因型分布也具有可比性。
本研究结果支持亚洲人群中主要AMD易感基因与PCV之间存在显著的遗传关联。这表明AMD和PCV尽管临床表现不同，但可能共享常见的遗传风险因素。
