Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration

• DOI: 10.1371/journal.pone.0002091
• Publication Date: 2008-05-06T22:28:19Z
• Authors: Jeffrey A. Canter; Lana M. Olson; Kylee Spencer; Nathalie Schnetz-...; Brent Anderson; Michael A. Hauser; Silke Schmidt; Eric A. Postel; Anita Agarwal; Margaret A. Peric...; Paul Sternberg; Jonathan L. Haines
• Keywords: Male; 0301 basic medicine; Aging; genotype; mitochondrial DNA; Macular Degeneration; single nucleotide polymorphism; Reference Values; middle aged; guanine; genetics; retina macula age related degeneration; primer DNA; Fluorescein Angiography; apolipoprotein E; Genome; adult; pathogenesis; Q; complement factor H; article; R; risk assessment; Single Nucleotide; Middle Aged; Mitochondrial; aged; female; Medicine; Female; Research Article; Guanine; phenotype; Science; European Continental Ancestry Group; 610; DNA determination; Caucasian; DNA, Mitochondrial; Polymorphism, Single Nucleotide; White People; 03 medical and health sciences; Apolipoproteins E; male; 616; Humans; controlled study; human; Polymorphism; adenine; genome; Aged; DNA Primers; Adenine; aging; reference value; retina macula degeneration; clinical assessment; fluorescence angiography; DNA; major clinical study; age; DNA polymorphism; population research

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 increased risk for age-related macular degeneration (AMD). A preliminary 393 individuals (293 cases and 100 controls) ascertained at Vanderbilt revealed an occurrence 4917G compared controls (15.4% vs.9.0%, p = 0.11). Since there significant age difference between initial analysis, we extended by selecting Caucasian pairs matched exact examination. From 1547 Vanderbilt/Duke AMD population association (including 157 study), were able match 560 (280 280 unaffected) on This genotyped plus AMD-associated nuclear polymorphisms CFH, LOC387715 ApoE. Following adjustment listed polymorphisms, independently predicts presence (OR 2.16, 95%CI 1.20–3.91, 0.01). In conclusion, implicated other phenotypes (4917G) appears convey independent recently discovered DNA polymorphisms.