Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Cell Rep. 2012 Nov 29;2(5):1151-8. doi: 10.1016/j.celrep.2012.10.013. Epub 2012 Nov 21.
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly population worldwide. Although recent studies have demonstrated strong genetic associations between AMD and SNPs in a number of genes, other modes of regulation are also likely to play a role in the etiology of this disease. We identified a significantly decreased level of methylation on the IL17RC promoter in AMD patients. Furthermore, we showed that hypomethylation of the IL17RC promoter in AMD patients led to an elevated expression of its protein and messenger RNA in peripheral blood as well as in the affected retina and choroid, suggesting that the DNA methylation pattern and expression of IL17RC may potentially serve as a biomarker for the diagnosis of AMD and likely plays a role in disease pathogenesis.
年龄相关性黄斑变性(AMD)是全球老年人群中导致不可逆性失明的主要原因。尽管最近的研究表明 AMD 与许多基因中的 SNP 之间存在很强的遗传关联,但其他调控方式也可能在该疾病的发病机制中发挥作用。我们在 AMD 患者中发现 IL17RC 启动子上的甲基化水平显著降低。此外,我们还表明,AMD 患者中 IL17RC 启动子的低甲基化导致其蛋白和信使 RNA 在外周血以及受影响的视网膜和脉络膜中的表达升高,这表明 IL17RC 的 DNA 甲基化模式和表达可能潜在地作为 AMD 的诊断标志物,并可能在疾病发病机制中发挥作用。