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

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 BlumPeter J. Francis, Michael L. Klein, Robyn H. Guymer, Paul N Baird, Chi Chao Chan, Robert B. Nussenblatt

Research output: Contribution to journalArticleResearchpeer-review

142 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1151-1158
Number of pages8
JournalCell Reports
Issue number5
Publication statusPublished - 29 Nov 2012
Externally publishedYes

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