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Cell Rep. 2012 Nov 29;2(5):1151-8. doi: 10.1016/j.celrep.2012.10.013. Epub 2012 Nov 21.

Hypomethylation of the IL17RC promoter associates with age-related macular degeneration.

Author information

1
Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. lai.wei@nih.gov

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.

PMID:
23177625
PMCID:
PMC3513594
DOI:
10.1016/j.celrep.2012.10.013
[Indexed for MEDLINE]
Free PMC Article

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