Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations.
Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations.
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多形脉络膜血管病中主要的单核苷酸多态性：泰国人群与其他亚洲人群之间的比较分析。
DOI：
10.2147/opth.s30529
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Promso S
中科院分区：
文献类型：
--
作者：
Chantaren P;Ruamviboonsuk P;Ponglikitmongkol M;Tiensuwan M;Promso S
目的：探讨泰国人群中主要年龄相关性黄斑变性(AMD)易感基因、补体因子H(CFH)中的Y402H和I62V和ARMS2基因中的A69S与息肉状脉络膜血管病变(PCV)的关系。一项病例对照研究包括97例PCV病例和102例年龄和性别匹配的对照，没有任何视网膜病变。采用实时荧光定量聚合酶链式反应技术分析了这三种多态的基因分型。将这些多态与PCV的等位基因和基因关联与以前报道的其他亚洲人群的数据进行了比较。在本研究中观察到Y402H、I62V和A69S基因多态与PCV有很强的相关性(分别为P=0.002、0.003和0.0008)，并在汇编的数据中(P<；0.0001)观察到这三个多态都与PCV有关。本研究中PCV和对照组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%)也与汇编数据中的频率(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36.8%)相似。在两个数据集中，每种多态的基因分布也具有可比性。这项研究的结果支持在亚洲人群中主要的AMD易感基因和PCV之间的显著遗传关联。这表明，尽管AMD和PCV的表型不同，但它们可能具有共同的遗传风险因素。
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.