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.
European Continental Ancestry Group
Polymorphism, Single Nucleotide
Published Version (Please cite this version)10.1371/journal.pone.0002091
Publication InfoCanter, Jeffrey A; Olson, Lana M; Spencer, Kylee; Schnetz-Boutaud, Nathalie; Anderson, Brent; Hauser, Michael A; ... Haines, Jonathan L (2008). Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration. PLoS One, 3(5). pp. e2091. 10.1371/journal.pone.0002091. Retrieved from https://hdl.handle.net/10161/4490.
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Professor in Medicine
Dr. Hauser has a strong interest in ocular genetics. Genomic studies at the Center for Human Genetics have identified multiple linkage peaks and susceptibility genes in primary open angle glaucoma (POAG) and age related macular degeneration (AMD). Dr. Hauser has recently accepted a 20% appointment at the Singapore Eye Research INstitute and the Duke/National University of Singapore. In collaboration with multiple collaborators in Singapore, and Dr. Rand Allingham at the Duke Eye Cente
Professor of Ophthalmology
Dr. Postel was born in Philadelphia, PA and grew up in Princeton, NJ. He graduated from Harvard College in 1987 with an AB (honors) in Biological Anthropology. He received his MD degree from Jefferson Medical College in 1991. This was followed by an internship at The Miriam Hospital (Brown University) and then a residency in ophthalmology at Duke, finishing in 1995. Asked to return to Duke as Chief Resident, he first completed a fellowship in Vitreoretinal Surgery and Disease at The Eye Insti
Adjunct Associate Professor in the Department of Medicne
My primary research interests include genetic-epidemiologic studies of complex human diseases and the evaluation of statistical methods used in such studies, with an emphasis on assessing gene-environment interaction. I am principal investigator of a large NIH-funded case-control study of amyotrophic lateral sclerosis (ALS, Lou Gehrig’s disease) in US veterans, in collaboration with researchers at the Durham VA Medical Center. This study focuses on examining the role of gene-environme
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