@article{4481cea941a34f4cb1203edda8068530,
title = "Hypomethylation of the IL17RC Promoter Associates with Age-Related Macular Degeneration",
abstract = "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.",
author = "Lai Wei and Baoying Liu and Jingsheng Tuo and Defen Shen and Ping Chen and Zhiyu Li and Xunxian Liu and Jia Ni and Pradeep Dagur and Sen, {H. Nida} and Shayma Jawad and Diamond Ling and Stanley Park and Sagarika Chakrabarty and Catherine Meyerle and Elvira Agron and Ferris, {Frederick L.} and Chew, {Emily Y.} and McCoy, {J. Philip} and Emily Blum and Francis, {Peter J.} and Klein, {Michael L.} and Guymer, {Robyn H.} and Baird, {Paul N.} and Chan, {Chi Chao} and Nussenblatt, {Robert B.}",
note = "Funding Information: The authors thank the ATR for access to this national resource, the twins who volunteered for the study, and Andrea Richardson for DNA extraction and genotyping of twin samples. We also thank Dr. Neal Young for critically reading the manuscript. This study was supported by grants from the intramural research program of the NEI (to R.B.N., C.-C.C., F.L.F., and E.Y.C.), the National Center for Complementary and Alternative Medicine (to L.W. and R.B.N.), the National Heart Lung and Blood Institute (to J.P.M.), the Foundation Fighting Blindness (to P.J.F.), the Macular Degeneration Center Research Fund of the CEI (to M.L.K. and P.J.F.), Research to Prevent Blindness (unrestricted grant to the CEI, Career Development Award to P.J.F.), and the National Health and Medical Research Council Centre for Clinical Research Excellence (grant 529923, Translational Clinical Research in Major Eye Diseases and through a Practitioner Fellowship to R.H.G.). The CERA receives operational infrastructure support from the Victorian Government ",
year = "2012",
month = nov,
day = "29",
doi = "10.1016/j.celrep.2012.10.013",
language = "English (US)",
volume = "2",
pages = "1151--1158",
journal = "Cell Reports",
issn = "2211-1247",
publisher = "Cell Press",
number = "5",
}