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 InfoAgarwal, A; Anderson, B; Canter, JA; Haines, JL; Hauser, Michael A; Olson, LM; ... Sternberg, Paul W (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 http://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
Adjunct Professor in the Department of Medicine
The focus of my work is the genetic mapping and gene identification of inherited disorders of both a single gene and complex etiology. The emphasis is on the genetic epidemiology aspects of locating genes. The first step in this process is family ascertainment and sampling. I employ linkage analysis techniques in order to localize both causative as well as susceptibility genes for genetic disease. In Mendelian disorders such as Huntington disease, myotonic dystrophy, etc., I identify th
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