Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population
Abstract
Age-related macular degeneration (AMD), the leading cause of irreversible blindness in the world, is a complex disease caused by multiple environmental and genetic risk factors. To identify genetic factors that modify the risk of exudative AMD in the Japanese population, we conducted a genome-wide association study and a replication study using a total of 1,536 individuals with exudative AMD and 18,894 controls. In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30). Fine mapping revealed that rs13278062, which is known to alter TNFRSF10A transcriptional activity, had the most significant association in 8p21 region. Our results provide new insights into the pathophysiology of exudative AMD.
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Association has been demonstrated with several additional loci, each providing an entry-point into AMD biology and potential therapeutic targets.
“Association has also been demonstrated with several additional loci14–20, each providing an entry-point into AMD biology and potential therapeutic targets.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [20]
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- Authors
- Arakawa, S., Takahashi, A., Ashikawa, K., Hosono, N., Aoi, T., Yasuda, M., Oshima, Y., Yoshida, S., Enaida, H., Tsuchihashi, T., Mori, K., Honda, S., Negi, A., Arakawa, A., Kadonosono, K., Kiyohara, Y., Kamatani, N., Nakamura, Y., Ishibashi, T., & Kubo, M.
- Affiliations
- RIKEN (JP)
- Kyushu University (JP)
- Saitama Medical University (JP)
- Kobe University (JP)
- Yokohama City University Medical Center (JP)
- Institute of Medical Science, The University of Tokyo (JP)
- Corresponding author
- Kubo, Michiaki
- ORCID
- Venue
- Nature Genetics
- Published
- 2011-09-11
- Volume
- 43
- Issue
- 10
- Pages
- 1001-1004
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1997577711
- Cited by
- 149
- References
- 38
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 5 · 2023: 6 · 2022: 11 · 2021: 10 · 2020: 11 · 2019: 5 · 2018: 8 · 2017: 14 · 2016: 10 · 2015: 23 · 2014: 12 · 2013: 22 · 2012: 4
- FWCI
- 11.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (22116001, 23592567)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Keywords
- neovascular age-related macular degeneration, genetic susceptibility loci, complement factor H, ARMS2, TNFRSF10A, chromosome 8p21, fine mapping, Japanese population
- MeSH terms
- Age Factors, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 8, Humans, Risk Factors, Genome, Human, Logistic Models, Odds Ratio, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Genome-Wide Association Study, Genetic Loci, Wet Macular Degeneration
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