The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,740
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060
Complement factor H variant increases the risk of age-related macular degeneration
Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424
Self-citationThe Role of Oxidative Stress in the Pathogenesis of Age-Related Macular Degeneration
Beatty, S., Koh, H.-H., Phil, M., Henson, D., & Boulton, M. (2000) · Survey of Ophthalmology · doi:10.1016/s0039-6257(00)00140-5 · Cited by 2,051
Mitochondrial Respiratory-Chain Diseases
DiMauro, S., & Schon, E. A. (2003) · New England Journal of Medicine · doi:10.1056/nejmra022567 · Cited by 1,672
Classification of European mtDNAs From an Analysis of Three European Populations
Torroni, A., Huoponen, K., Francalacci, P., Petrozzi, M., Morelli, L., Scozzari, R., Obinu, D. A., Savontaus, M., & Wallace, D. C. (1996) · Genetics · doi:10.1093/genetics/144.4.1835 · Cited by 838
Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease
van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., NANCE, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K. E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/373937 · Cited by 537
Self-citationMitochondrial DNA sequence variation in human evolution and disease.
Wallace, D. C. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.19.8739 · Cited by 525
Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility
Ruiz‐Pesini, E., Lapeña, A. C., Díez‐Sánchez, C., Martos, A. P., Montoya, J., Alvarez, E., Díaz, M. Á., Urriés, A., Montoro, L., López-Pérez, M. J., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303040 · Cited by 504
Mitochondrial DNA variation in human evolution and disease
Wallace, D. C., Brown, M. D., & Lott, M. T. (1999) · Gene · doi:10.1016/s0378-1119(99)00295-4 · Cited by 467
POLYMORPHIC SITES AND THE MECHANISM OF EVOLUTION IN HUMAN MITOCHONDRIAL DNA
Cann, R. L., Brown, W. M., & Wilson, A. C. (1984) · Genetics · doi:10.1093/genetics/106.3.479 · Cited by 363
Schmidt, S., Hauser, M. A., Scott, W. K., Postel, E. A., Agarwal, A., Gallins, P., Wong, F., Chen, Y. S., Spencer, K., Schnetz-Boutaud, N., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/503822 · Cited by 335 · cited 1×
“[4] Recent genetic research has focused primarily on the nuclear genome and resulted in significant new associations, such as those in the Complement Factor H gene (CFH) on Chromosome 1 and the HTRA1/ LOC387715 gene complex on Chromosome 10, with the AMD phenotype.[5,6] However, variation in the mitochondrial genome m…”
BackgroundSelf-citationGenetic Risk of Age-related Maculopathy: Population-Based Familial Aggregation Study
Klaver, C. C. W. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.12.1646 · Cited by 323
Genetic influence on early age-related maculopathy
Hammond, C. J., Webster, A. R., Snieder, H., Bird, A. C., Gilbert, C. E., & Spector, T. D. (2002) · Ophthalmology · doi:10.1016/s0161-6420(01)01049-1 · Cited by 237 · cited 11×
“Each of these processes has been implicated in the pathogenesis of AMD.”
BackgroundInfluentialSwaroop, A., Branham, K. E., Chen, W., & Abecasis, G. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm212 · Cited by 173
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy
Schmidt, S., Klaver, C. C. W., Saunders, A. M., Postel, E. A., De La Paz, M. A., Agarwal, A., Small, K. W., Udar, N., Ong, J. M., Chalukya, M. V., et al. (2002) · Ophthalmic Genetics · doi:10.1076/opge.23.4.209.13883 · Cited by 149
Self-citationPharmacological consequences of oxidative stress in ocular tissues
Ohia, S. E., Opere, C. A., & LeDay, A. M. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.03.025 · Cited by 148
Hulgan, T., Haas, D. W., Haines, J. L., Ritchie, M. D., Robbins, G. K., Shafer, R. W., Clifford, D. B., Kallianpur, A. R., Summar, M. L., & Canter, J. A. (2005) · AIDS · doi:10.1097/01.aids.0000180786.02930.a1 · Cited by 147
Self-citationMelatonin protects human retinal pigment epithelial (RPE) cells against oxidative stress
Liang, F.-Q., Green, L., Wang, C., Alssadi, R., & Godley, B. F. (2004) · Experimental Eye Research · doi:10.1016/j.exer.2004.02.003 · Cited by 106
Canter, J. A., Haas, D. W., Kallianpur, A. R., Ritchie, M. D., Robbins, G. K., Shafer, R. W., Clifford, D. B., Murdock, D. G., & Hulgan, T. (2007) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500470 · Cited by 61
Self-citationPostel, E. A., Agarwal, A., Schmidt, S., Fan, Y.-T. R., Scott, W. K., Gilbert, J. R., Haines, J. L., & Pericak‐Vance, M. A. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2004.12.029 · Cited by 27
Self-citation
Cited by
Sorted by citations
Age-related macular degeneration
Fleckenstein, M., Keenan, T. D. L., Guymer, R. H., Chakravarthy, U., Schmitz-Valckenberg, S., Klaver, C. C. W., Wong, W. T., & Chew, E. Y. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-021-00265-2 · Cited by 1,093
The impact of oxidative stress and inflammation on RPE degeneration in non-neovascular AMD
Datta, S., Cano, M., Ebrahimi, K. B., Wang, L., & Handa, J. T. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.03.002 · Cited by 843
Age-Related Macular Degeneration: Genetics and Biology Coming Together
Fritsche, L. G., Fariss, R. N., Stambolian, D. E., Abecasis, G. R., Curcio, C. A., & Swaroop, A. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025610 · Cited by 546
Mechanisms of mitochondrial dysfunction and their impact on age-related macular degeneration
Kaarniranta, K., Uusitalo, H. M. T., Błasiak, J., Felszeghy, S., Kannan, R., Kauppinen, A., Salminen, A., Sinha, D., & Ferrington, D. A. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100858 · Cited by 548
Doyle, S., Campbell, M., Ozaki, E., Salomon, R. G., Mori, A., Kenna, P. F., Farrar, G. J., Kiang, A., Humphries, M. M., Lavelle, E. C., et al. (2012) · Nature Medicine · doi:10.1038/nm.2717 · Cited by 428
Metadata
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
