Show simple item record Canter, JA Olson, LM Spencer, K Schnetz-Boutaud, N Anderson, B Hauser, MA Schmidt, S Postel, EA Agarwal, A Pericak-Vance, MA Sternberg, P Haines, JL
dc.coverage.spatial United States 2011-06-21T17:31:23Z 2008-05-07
dc.identifier.citation PLoS One, 2008, 3 (5), pp. e2091 - ?
dc.description.abstract 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.
dc.format.extent e2091 - ?
dc.language eng
dc.language.iso en_US en_US
dc.relation.ispartof PLoS One
dc.relation.isversionof 10.1371/journal.pone.0002091
dc.subject Adenine
dc.subject Aged
dc.subject Aging
dc.subject Apolipoproteins E
dc.subject DNA Primers
dc.subject DNA, Mitochondrial
dc.subject European Continental Ancestry Group
dc.subject Female
dc.subject Fluorescein Angiography
dc.subject Genome
dc.subject Guanine
dc.subject Humans
dc.subject Macular Degeneration
dc.subject Male
dc.subject Middle Aged
dc.subject Polymorphism, Single Nucleotide
dc.subject Reference Values
dc.title Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration.
dc.title.alternative en_US
dc.type Journal Article
dc.description.version Version of Record en_US 2008-5-7 en_US
duke.description.endpage e2091 en_US
duke.description.issue 5 en_US
duke.description.startpage e2091 en_US
duke.description.volume 3 en_US
dc.relation.journal Plos One en_US
pubs.issue 5
pubs.organisational-group /Duke
pubs.organisational-group /Duke/Faculty
pubs.organisational-group /Duke/School of Medicine
pubs.organisational-group /Duke/School of Medicine/Basic Science Departments
pubs.organisational-group /Duke/School of Medicine/Basic Science Departments/Molecular Genetics and Microbiology
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments/Medicine
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments/Medicine/Medicine, Medical Genetics
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments/Ophthalmology
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments/Ophthalmology/Ophthalmology, Vitreoretinal Diseases & Surgery
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers/Duke Molecular Physiology Institute
pubs.publication-status Published online
pubs.volume 3
dc.identifier.eissn 1932-6203

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