Hypomethylation of the IL17RC Promoter Associates with Age-Related Macular Degeneration
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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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Elevated levels of effector T cell IL22 and IL17 cytokines were reported in AMD patients, suggesting an activation of cellular-mediated immunity.
“Elevated levels of effector T cell IL22 and IL17 cytokines were reported in AMD patients [64,65], suggesting an activation of cellular-mediated immunity.”
From Risk mitigation of immunogenicity: a key to personalized retinal gene therapy (2021) · cites this paper as [65]
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The essential role of N6-methyladenosine RNA methylation in complex eye diseases
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Epigenetics and Ocular Diseases: From Basic Biology to Clinical Study
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Immunological Aspects of Age-Related Macular Degeneration
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DNA methylation plays important roles in retinal development and diseases
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Self-citation(Epi)Genetic Analyses of Age-Related Macular Degeneration: Case-Control and Discordant Twin Studies
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Self-citationGenetic and Epigenetic Biomarkers Linking Alzheimer’s Disease and Age-Related Macular Degeneration
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- Authors
- Wei, L., Liu, B., Tuo, J., Shen, D., Chen, P., Li, Z., Liu, X., Ni, J., Dagur, P., Sen, H. N., Jawad, S., Ling, D., Park, S., Chakrabarty, S., Meyerle, C., Agron, E., Ferris, F. L., Chew, E. Y., McCoy, J. P., Blum, E., Francis, P. J., Klein, M. L., Guymer, R. H., Baird, P. N., Chan, C.-C., & Nussenblatt, R. B.
- Affiliations
- National Institutes of Health (US)
- Oregon Health & Science University (US)
- The University of Melbourne (AU)
- Corresponding author
- Wei, Lai
- Nussenblatt, Robert B.
- ORCID
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2012-11
- Volume
- 2
- Issue
- 5
- Pages
- 1151-1158
- ISSN
- 2211-1247 (ISSN-L)
- PMC
- PMC3513594
- OpenAlex
- W2020209902
- Cited by
- 167
- References
- 39
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 6 · 2023: 5 · 2022: 15 · 2021: 15 · 2020: 6 · 2019: 15 · 2018: 9 · 2017: 16 · 2016: 17 · 2015: 10 · 2014: 23 · 2013: 19
- FWCI
- 15.56
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institutes of Health
- National Eye Institute (ZIAEY000356, ZIAEY000464, ZIAEY000376, Z01EY000376)
- National Center for Complementary and Integrative Health (ZIAAT000015)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Keywords
- age-related macular degeneration, promoter hypomethylation, DNA methylation, epigenetic regulation, gene expression, biomarkers, retina, choroid, peripheral blood
- MeSH terms
- Cell Line, Eye, Gene Expression Regulation, Humans, Macular Degeneration, Monocytes, Promoter Regions, Genetic, Twins, Receptors, Interleukin, CpG Islands, DNA Methylation, Interleukin-17, Photoreceptor Cells, Vertebrate, Polymorphism, Single Nucleotide
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