Cell Reports (Nov 2012)
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, 3rd,
- 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
Affiliations
- Lai Wei
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Baoying Liu
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Jingsheng Tuo
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Defen Shen
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Ping Chen
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Zhiyu Li
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Xunxian Liu
- National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA
- Jia Ni
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Pradeep Dagur
- Hematology Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
- H. Nida Sen
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Shayma Jawad
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Diamond Ling
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Stanley Park
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Sagarika Chakrabarty
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Catherine Meyerle
- Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Elvira Agron
- Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Frederick L. Ferris, 3rd
- Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Emily Y. Chew
- Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- J. Philip McCoy
- Hematology Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Emily Blum
- Macular Degeneration Center and Leonard Christensen Eye Pathology Laboratory, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA
- Peter J. Francis
- Macular Degeneration Center and Leonard Christensen Eye Pathology Laboratory, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA
- Michael L. Klein
- Macular Degeneration Center and Leonard Christensen Eye Pathology Laboratory, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA
- Robyn H. Guymer
- Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia
- Paul N. Baird
- Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia
- Chi-Chao Chan
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- Robert B. Nussenblatt
- Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
- DOI
- https://doi.org/10.1016/j.celrep.2012.10.013
- Journal volume & issue
-
Vol. 2,
no. 5
pp. 1151 – 1158
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.
