Complement factor H increases risk for atrophic age-related macular degeneration
Complement factor H increases risk for atrophic age-related macular degeneration
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DOI：
10.1016/j.ophtha.2006.02.049
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发表时间：
2006-09-01
期刊：
影响因子：
13.7
通讯作者：
Pericak-Vance, Margaret A.
中科院分区：
文献类型：
--
作者：
Postel, Eric A.;Agarwal, Anita;Pericak-Vance, Margaret A.
目的：探讨补体因子H基因（CFH）是否与地理性萎缩（GA）的发生风险有关。设计：回顾性病例对照研究。参与者和对照组：独立的病例-对照数据集包含647例年龄相关性黄斑变性（AMD）病例（3、4或5级）和163例对照（1或2级）。方法：在647例AMD病例和163例对照的独立病例-对照数据集中，为了确定CFH是否对GA的发生风险有影响，我们检测了rs1061170单核苷酸多态性的相关性，并将其与对照进行了分级和独立分析。比值比采用标准逻辑回归模型计算。主要结局指标：结局变量为AMD病情，基因型按对数加性模型编码。结果：5级407人，4级107人，3级133人，2级35人，1级128人。与对照组相比，3级、4级和5级患者与AMD有显著关联。当分析4级病例与1级对照时，获得了最高的优势比（OR = 3.217, P < 0.0001）。结论：我们的研究结果表明，CFH增加了发生GA（4级）、新生血管（5级）和较轻（3级）疾病的风险。虽然新生血管疾病是造成AMD严重视力丧失的主要原因，但GA也是导致视力丧失的重要原因，而且没有有效的治疗。因此，试图澄清其发病机制是至关重要的。
Objective: To determine if the complement factor H gene (CFH) determines risk for development of geographic atrophy (GA).Design: Retrospective case-control study.Participants and Controls: The independent case-control data set contained 647 age-related macular degeneration (AMD) cases (grades 3, 4, or 5) and 163 controls (grades 1 or 2).Methods: To determine if CFH had any effect on determining risk for development of GA in an independent case-control data set of 647 AMD cases and 163 controls, the rs1061170 single-nucleotide polymorphism was tested for association, separating grades and analyzing them independently against the controls. Odds ratios were calculated using standard logistic regression models.Main Outcome Measures: The outcome variable was AMD affection status, and genotypes were coded according to a log-additive model.Results: There were 407 grade 5, 107 grade 4, 133 grade 3, 35 grade 2, and 128 grade 1 individuals. There was significant association with AMD when comparing grades 3, 4, and 5 versus the controls. The highest odds ratio was obtained when analyzing the grade-4 cases versus the grade-1 controls (OR = 3.217, P < 0.0001).Conclusions: Our results indicate that CFH increases the risk of developing GA (grade 4) as well as neovascular (grade 5) and milder (grade 3) disease. Although neovascular disease is responsible for the majority of severe vision loss with AMD, GA is also a significant cause of vision loss, and without effective treatment. Therefore, an attempt to clarify its pathogenesis is of the utmost importance.