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Hypomethylation of the IL17RC Promoter Associates with Age-Related Macular Degeneration
Author(s) -
Lai Wei,
Baoying Liu,
Jingsheng Tuo,
Defen Shen,
Ping Chen,
Zhiyu Li,
Xunxian Liu,
Jia Ni,
Pradeep K. Dagur,
H. Nida Sen,
Shayma Jawad,
Diamond Ling,
Stanley Park,
Sagarika Chakrabarty,
Catherine Meyerle,
Elvira Agrón,
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. Nussenblatt
Publication year - 2012
Publication title -
cell reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.264
H-Index - 154
eISSN - 2639-1856
pISSN - 2211-1247
DOI - 10.1016/j.celrep.2012.10.013
Subject(s) - macular degeneration , biomarker , dna methylation , biology , methylation , epigenetics , pathogenesis , promoter , microrna , disease , single nucleotide polymorphism , gene , genetics , population , gene expression , medicine , pathology , immunology , genotype , ophthalmology , environmental health
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.

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