Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.
Invest Ophthalmol Vis Sci. 2010 May;51(5):2317-21. doi: 10.1167/iovs.09-4482. Epub 2009 Dec 10.
To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with age-related macular degeneration (AMD).
Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB).
The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4-13, for CC versus TT genotypes) as was macular drusen >63 microm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 microm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4)
In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H. (ClinicalTrials.gov number, NCT00289237).
研究小而硬的黄斑部玻璃膜疣和周边玻璃膜疣与年龄相关性黄斑变性（AMD）相关基因型的关联。
对 1107 名 30 至 66 岁的受检者，在无赤光下拍摄数码灰度眼底照片，并对照片中玻璃膜疣的存在情况进行分级。受检者的补体因子 H（CFH）、LOC387715 和补体因子 B（CFB）与 AMD 相关的基因多态性进行了基因分型。
每只眼有 20 个或更多小而硬的黄斑部玻璃膜疣的患病率为 14%，与所研究的基因多态性无关。周边玻璃膜疣与 CFHY402H 相关（优势比[OR]，4.3；95%置信区间[95%CI]，1.4-13，CC 与 TT 基因型相比），黄斑部玻璃膜疣 >63μm 也与 CC 与 TT 基因型相比相关（OR，1.9；95%CI，1.1-3.1）。黄斑部玻璃膜疣 >63μm 与存在 20 个或更多小而硬的黄斑部玻璃膜疣（OR，1.7；95%CI，1.1-2.6）和周边玻璃膜疣（OR，2.5；95%CI，1.2-5.4）相关。
在本研究中，每只眼有 20 个或更多小而硬的黄斑部玻璃膜疣的存在与已知的 AMD 相关基因多态性无关，而研究证实了周边玻璃膜疣与 CFHY402H 的关联性。（临床试验编号，NCT00289237）。
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