Hypomethylation of the IL17RC promoter associates with age-related macular degeneration.
Cell Rep, 2012/11/29;2(5):1151-8.
Wei L[1], Liu B, Tuo J, Shen D, Chen P, Li Z, Liu X, Ni J, Dagur P, Sen HN, Jawad S, Ling D, Park S, Chakrabarty S, Meyerle C, Agron E, Ferris FL 3rd, Chew EY, McCoy JP, Blum E, Francis PJ, Klein ML, Guymer RH, Baird PN, Chan CC, Nussenblatt RB
Affiliations
PMID: 23177625
Impact factor: 9.995
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.
MeSH terms
Cell Line; CpG Islands; DNA Methylation; Eye; Gene Expression Regulation; Humans; Interleukin-17; Macular Degeneration; Monocytes; Photoreceptor Cells, Vertebrate; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Receptors, Interleukin; Twins
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