Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil, University Paris Est, Creteil, France.
Retina. 2013 May;33(5):998-1004. doi: 10.1097/IAE.0b013e31827b6483.
To analyze the genetic and environmental factors associated with reticular pseudodrusen (RPD) in age-related macular degeneration (AMD).
In a large population, AMD patients (n = 519) with and without RPD were assessed with a standardized examination including infrared images and spectral domain optical coherence tomography scans. Three groups were defined: Group 1: AMD patients with RPD (n = 105); Group 2: AMD patients without RPD (n = 414); and Group 3: controls with no AMD and no RPD (n = 430). Four genes associated with AMD (CFH, ARMS2/HTRA1, C3, apolipoprotein E) and environmental factors were assessed between the 3 groups.
None of the environmental factors studied were more significantly associated to either Group 1 or Group 2. The odds ratios and 95% confidence intervals for individuals homozygous for the CFH risk allele were 4.0 (2.1-7.7) ([95% confidence interval: 2.1-7.7]; P < 0.0004) in Group 1 and 4.3 ([2.6-7.1]; P < 0.0004) in Group 2, compared with Group 3. The odds ratios for individuals homozygous for the ARMS2 risk allele for Groups 1 and 2 compared with Group 3 were 16.3 ([7.6-35.4]; P < 0.0004) and 11.9 ([6.3-22.3]; P < 0.0004), respectively. None of the genotypes studied were more significantly associated to Group 1 than Group 2.
Genotypes known to be associated with AMD were similarly observed in patients with and without RPD.
分析与年龄相关性黄斑变性（AMD）相关的网状假性色素沉着（RPD）的遗传和环境因素。
在一个大人群中，对 AMD 患者（n=519）进行了评估，包括标准化检查，包括红外图像和光谱域光学相干断层扫描扫描。定义了三组：组 1：RPD 的 AMD 患者（n=105）；组 2：无 RPD 的 AMD 患者（n=414）；组 3：无 AMD 和无 RPD 的对照组（n=430）。在三组之间评估了与 AMD 相关的四个基因（CFH、ARMS2/HTRA1、C3、载脂蛋白 E）和环境因素。
在所研究的环境因素中，没有一个与组 1 或组 2 有更显著的关联。在组 1 和组 2 中，CFH 风险等位基因纯合子个体的优势比和 95%置信区间分别为 4.0（2.1-7.7）[95%置信区间：2.1-7.7]（P<0.0004）和 4.3（2.6-7.1）（P<0.0004），与组 3 相比。与组 3 相比，组 1 和组 2 中 ARMS2 风险等位基因纯合子个体的优势比分别为 16.3（7.6-35.4）（P<0.0004）和 11.9（6.3-22.3）（P<0.0004）。所研究的基因型与组 1 相比均未与组 2 有更显著的关联。
与 AMD 相关的基因型在有和无 RPD 的患者中均有类似观察。
