Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Capital Medical University, Beijing, China.
Retina. 2010 Mar;30(3):443-6. doi: 10.1097/IAE.0b013e3181c2e086.
The purpose of this study was to analyze the association between the Y402H polymorphism in the complement factor H and soft drusen of the macula as part of age-related maculopathy in the Chinese population.
In the population-based Beijing Eye Study, the participants underwent a detailed ophthalmic examination including fundus photography. All fundus photographs were graded using the Wisconsin Grading System. Of 515 subjects with soft drusen in the macula, 208 (40.4%) subjects had blood samples taken and were thus eligible for the present study. These subjects were compared with 140 randomly selected control subjects from the Beijing Eye Study matched for age, sex, and rural versus urban area with the study group. The analysis of the genotype was performed by allele-specific digestion of polymerase chain reaction products.
Dividing the study group into subjects with bilateral soft drusen and unilateral soft drusen showed a significant association between the Y402H polymorphism in the complement factor H gene and the study group with bilateral soft drusen with an odds ratio of 2.29 (95% confidence interval, 1.06-4.95).
Also in the Chinese population, soft drusen as part of age-related maculopathy are associated with the Y402H polymorphism in the complement factor H gene despite a markedly lower frequency of C allele in the Chinese population than in white populations.
本研究旨在分析中国人群补体因子 H 的 Y402H 多态性与黄斑部软性玻璃疣（年龄相关性黄斑病变的一部分）之间的关联。
在基于人群的北京眼研究中，参与者接受了详细的眼科检查，包括眼底照相。所有眼底照片均采用威斯康星分级系统进行分级。在 515 名黄斑部有软性玻璃疣的受试者中，有 208 名（40.4%）受试者采集了血液样本，因此符合本研究的条件。这些受试者与北京眼研究中的 140 名随机选择的对照受试者相匹配，按年龄、性别以及研究组的城乡进行匹配。通过聚合酶链反应产物的等位基因特异性消化对基因型进行分析。
将研究组分为双侧软性玻璃疣和单侧软性玻璃疣的受试者，补体因子 H 基因的 Y402H 多态性与双侧软性玻璃疣的研究组显著相关，其比值比为 2.29（95%置信区间，1.06-4.95）。
在中国人群中，尽管补体因子 H 基因的 C 等位基因在中国人群中的频率明显低于白种人群，但软性玻璃疣作为年龄相关性黄斑病变的一部分与补体因子 H 基因的 Y402H 多态性相关。
