Cruz-González F, Cabrillo Estévez L, Cañete Campos C, Sánchez-Jara Sánchez A, Juan Marcos L, González-Sarmiento R
Servicio de Oftalmología, Hospital Universitario de Salamanca, Salamanca, España.
Servicio de Oftalmología, Instituto Salmantino de Oftalmología, Salamanca, España.
Arch Soc Esp Oftalmol. 2016 Apr;91(4):177-83. doi: 10.1016/j.oftal.2015.12.016. Epub 2016 Feb 3.
To demonstrate the genetic influence in the onset of the different age-related macular disease (AMD) subtypes by analysing the genotype distribution of CFH, ARMS2, HTRA1, VEGF-A and VEGF-R polymorphisms in patients with neovascular and atrophic AMD.
The study was conducted on 101 consecutive patients with AMD diagnosis (74 exudative, 27 atrophic) following Wisconsin international classification criteria. The CFH rs1410996, ARMS2 rs10940923, VEGF-A rs833061, rs699947, and VEGF-R rs2071559 polymorphisms were analysed using real time PCR with taqman probes, and HTRA1 rs112000638 using restriction endonucleases digestion. A study was made of the genotype distribution of the different polymorphisms in our group of patients with neovascular AMD and those with the atrophic type, and a comparison was made of the results for each one of the genes studied.
No statistically significant differences (P>.05) were found in the genotype distribution of the different polymorphisms between patients with neovascular AMD and patients with atrophic AMD in our population, although the "risk" genotypes tended to appear more frequently in patients with neovascular AMD, despite the lack of statistical significance.
Allelic variants of CFH, ARMS2, HTRA1, VEGF-A or VEGF-R genes are not associated with the different AMD subtypes. This suggests that, although the polymorphisms seem to be associated with the disease susceptibility, they are not involved in the onset of the different clinical variants of AMD. Further studies in different populations, and with a larger cohort of patients, are needed to confirm these results.
通过分析新生血管性和萎缩性年龄相关性黄斑病变（AMD）患者中CFH、ARMS2、HTRA1、VEGF - A和VEGF - R基因多态性的基因型分布，证明遗传因素在不同类型AMD发病中的影响。
本研究依据威斯康星国际分类标准，对101例连续诊断为AMD的患者（74例渗出性，27例萎缩性）进行。使用TaqMan探针通过实时PCR分析CFH rs1410996、ARMS2 rs10940923、VEGF - A rs833061、rs699947以及VEGF - R rs2071559基因多态性，使用限制性内切酶消化分析HTRA1 rs112000638。研究了新生血管性AMD患者组和萎缩性AMD患者组中不同多态性的基因型分布，并对所研究的每个基因的结果进行了比较。
在我们的研究人群中，新生血管性AMD患者和萎缩性AMD患者之间，不同多态性的基因型分布未发现统计学显著差异（P>0.05），尽管“风险”基因型在新生血管性AMD患者中出现的频率更高，但缺乏统计学意义。
CFH、ARMS2、HTRA1、VEGF - A或VEGF - R基因的等位基因变异与不同的AMD亚型无关。这表明，尽管这些多态性似乎与疾病易感性相关，但它们并不参与AMD不同临床变体的发病。需要在不同人群中进行进一步研究，并纳入更大的患者队列以证实这些结果。
