Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration.

Canter, Jeffrey A

Olson, Lana M

Spencer, Kylee

Schnetz-Boutaud, Nathalie

Anderson, Brent

Hauser, Michael A

Schmidt, Silke

Postel, Eric A

Agarwal, Anita

Pericak-Vance, Margaret A

Sternberg, Paul

Haines, Jonathan L

Nicholas Weedon, Michael

United States

2011-06-21T17:31:23Z

2008-05-07

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.

Version of Record

https://www.ncbi.nlm.nih.gov/pubmed/18461138

1932-6203

https://hdl.handle.net/10161/4490

eng

en_US

Public Library of Science (PLoS)

PLoS One

10.1371/journal.pone.0002091

Plos One

Adenine

Aged

Aging

Apolipoproteins E

DNA Primers

DNA, Mitochondrial

European Continental Ancestry Group

Female

Fluorescein Angiography

Genome

Guanine

Humans

Macular Degeneration

Male

Middle Aged

Polymorphism, Single Nucleotide

Reference Values

Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration.

Journal article

2008-5-7

5

3

https://www.ncbi.nlm.nih.gov/pubmed/18461138

e2091

5

Basic Science Departments

Clinical Science Departments

Duke

Duke Molecular Physiology Institute

Faculty

Institutes and Centers

Medicine

Medicine, Medical Genetics

Molecular Genetics and Microbiology

Ophthalmology

Ophthalmology, Vitreoretinal Diseases & Surgery

School of Medicine

Published online

3