Hypomethylation of the IL17RC Promoter Associates with Age-Related Macular Degeneration

• DOI: 10.1016/j.celrep.2012.10.013
• Publication Date: 2012-11-21T15:18:30Z
• Authors: Lai Wei; Baoying Liu; Jingsheng Tuo; Defen Shen; Ping Chen; Zhiyu Li; Xunxian Liu; Jia Ni; Pradeep Dagur; H. Nida Sen; Shayma Jawad; Diamond Ling; Stanley Park; Sagarika Chakrabarty; Catherine Meyerle; Elvira Agron; Frederick L. Ferris; Emily Y. Chew; J. Philip McCoy; Emily Blum; Peter J. Francis; Michael L. Klein; Robyn H. Guymer; Paul N. Baird; Chi-Chao Chan; Robert B. Nussenb...
• Keywords: 0303 health sciences; QH301-705.5; Interleukin-17; Twins; Receptors, Interleukin; DNA Methylation; Eye; Polymorphism, Single Nucleotide; Monocytes; Cell Line; Macular Degeneration; 03 medical and health sciences; Gene Expression Regulation; Humans; CpG Islands; Biology (General); Promoter Regions, Genetic; Photoreceptor Cells, Vertebrate

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.