Department of Ophthalmology, Affiliated Hospital of Nantong University, 20 Xisi Road, Nantong 226001, China.
Br J Ophthalmol. 2010 Sep;94(9):1211-4. doi: 10.1136/bjo.2009.165811. Epub 2010 Jun 10.
BACKGROUND/AIMS: Single nucleotide polymorphisms (SNPs) in Complement Factor H (CFH), HTRA1 and CX3CR1 are associated with age-related macular degeneration (AMD) in Caucasian population. We aimed to determine whether, and of what magnitude, these AMD susceptibility SNPs are associated with exudative AMD in Han Chinese.
Exudative AMD cases and age-matched controls were recruited from Nantong University Hospital (109 cases, 150 controls). Six SNPs in CFH, HTRA1 and CX3CR1 were genotyped. The allele/genotype frequencies were compared between the case and the control. Interactions of SNP-SNP or SNP-smoking status were assessed.
The CFH rs800292 showed significant associations with a reduced risk for exudative AMD. CX3CR1 V249I and T280M and the HTRA1 promoter SNP were significantly associated with the risk of exudative AMD. The two SNPs in CX3CR1 were in complete linkage disequilibrium. None of the AMD-susceptibility SNPs had interactions with each other or with smoking status to confer an altered AMD risk.
We have replicated the associations of the CFH and HTRA1 SNPs and report for the first time the association of CX3CR1 with exudative AMD in Han Chinese. There was no interaction among the SNPs from different genes, indicating that they might alter the AMD risk independently.
背景/目的：单核苷酸多态性（SNPs）在补体因子 H（CFH）、HTRA1 和 CX3CR1 与高加索人群的年龄相关性黄斑变性（AMD）相关。我们旨在确定这些 AMD 易感性 SNPs 是否以及在多大程度上与汉族人群的渗出性 AMD 相关。
渗出性 AMD 病例和年龄匹配的对照均来自南通大学附属医院（109 例病例，150 例对照）。CFH、HTRA1 和 CX3CR1 中的 6 个 SNPs 进行了基因分型。比较病例组和对照组的等位基因/基因型频率。评估 SNP-SNP 或 SNP-吸烟状态的相互作用。
CFH rs800292 与渗出性 AMD 的风险降低显著相关。CX3CR1 V249I 和 T280M 以及 HTRA1 启动子 SNP 与渗出性 AMD 的风险显著相关。CX3CR1 中的两个 SNPs 完全连锁不平衡。没有一个 AMD 易感性 SNPs 与其他 SNPs 或与吸烟状态相互作用，从而改变 AMD 的风险。
我们复制了 CFH 和 HTRA1 SNPs 的关联，并首次报道了 CX3CR1 与汉族渗出性 AMD 的关联。来自不同基因的 SNPs 之间没有相互作用，表明它们可能独立改变 AMD 的风险。
