Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration
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The objective of this study was to determine if MTND2*LHON4917G (4917G), a specific non-synonymous polymorphism in the mitochondrial genome previously associated with neurodegenerative phenotypes, is associated with increased risk for age-related macular degeneration (AMD). A preliminary study of 393 individuals (293 cases and 100 controls) ascertained at Vanderbilt revealed an increased occurrence of 4917G in cases compared to controls (15.4% vs.9.0%, p = 0.11). Since there was a significant age difference between cases and controls in this initial analysis, we extended the study by selecting Caucasian pairs matched at the exact age at examination. From the 1547 individuals in the Vanderbilt/Duke AMD population association study (including 157 in the preliminary study), we were able to match 560 (280 cases and 280 unaffected) on exact age at examination. This study population was genotyped for 4917G plus specific AMD-associated nuclear genome polymorphisms in CFH, LOC387715 and ApoE. Following adjustment for the listed nuclear genome polymorphisms, 4917G independently predicts the presence of AMD (OR = 2.16, 95%CI 1.20-3.91, p = 0.01). In conclusion, a specific mitochondrial polymorphism previously implicated in other neurodegenerative phenotypes (4917G) appears to convey risk for AMD independent of recently discovered nuclear DNA polymorphisms.
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A specific mitochondrial DNA polymorphism, A4917G, is reported to be associated with AMD.
“Consistent with the role of mitochondria in neurodegenerative disease, a specific mitochondrial DNA polymorphism, A4917G, is reported to be associated with AMD (20).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [20]
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- Authors
- Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., Sternberg, P., & Haines, J. L.
- Affiliations
- Vanderbilt University Medical Center (US)
- Duke Medical Center (US)
- Corresponding author
- Canter, Jeffrey A.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-05-07
- Volume
- 3
- Issue
- 5
- Pages
- e2091
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC2330085
- OpenAlex
- W1976102972
- Cited by
- 110
- References
- 22
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 4 · 2023: 5 · 2022: 3 · 2021: 4 · 2020: 6 · 2019: 5 · 2017: 6 · 2016: 4 · 2015: 3 · 2014: 12 · 2013: 7 · 2012: 13
- FWCI
- 11.13
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- National University of Singapore (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DukeSpace (Duke University) (submittedVersion, cc-by-nc-nd)
- Funders
- Vanderbilt University (M01 RR00095)
- Vanderbilt University Medical Center
- National Eye Institute (R01EY012118, U10EY012118, EY12118)
- National Center for Research Resources (M01RR000095, M01-RR-00095)
- 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 › Mitochondrial Function and Pathology
- Keywords
- age-related macular degeneration, mitochondrial DNA polymorphism, genetic susceptibility, non-synonymous variants, case-control association, age-matched controls, complement factor H, LOC387715, apolipoprotein E, nuclear polymorphism
- MeSH terms
- Adenine, Aged, Aging, Apolipoproteins E, DNA, Mitochondrial, Female, Fluorescein Angiography, Guanine, Humans, Macular Degeneration, Male, Middle Aged, Reference Values, Genome, DNA Primers, Polymorphism, Single Nucleotide, White People
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