Mitochondrial DNA haplogroups and age-related maculopathy.
OBJECTIVE
To investigate whether mitochondrial haplogroups are associated with age-related maculopathy (ARM).


METHODS
We assessed the association between mitochondrial haplogroups and ARM in a population-based sample of 3509 persons aged 49 years or older residing west of Sydney. Retinal photographs of both eyes were taken (1999-2001) and subsequently graded for ARM following the Wisconsin grading system. Genetic analysis for mitochondrial DNA haplogroups was performed. Associations between these genetic markers and risk factors for ARM were assessed.


RESULTS
After adjusting for age, sex, and smoking, haplogroup H was associated with a reduced prevalence of any (early and late) ARM (odds ratio [OR], 0.75; 95% confidence interval [CI], 0.58-0.97), early ARM (OR, 0.75; 95% CI, 0.57-0.98), and large distinct and indistinct soft drusen (OR, 0.70; 95% CI, 0.56-0.89). Haplogroup J was associated with a higher prevalence of large, soft distinct drusen (OR, 1.80; 95% CI, 1.18-2.73). Haplogroup U was associated with an increased prevalence of retinal pigment abnormalities (OR, 1.45; 95% CI, 1.11-1.91).


CONCLUSIONS
Our findings of associations between different haplogroup types and prevalent ARM or ARM lesions suggest that these haplogroups may be genetic markers indicative of an individual's susceptibility to ARM.
Jones
Michael M
MM
Department of Neurogenetics, University of Sydney, Australia.
Manwaring
Neil
N
Wang
Jie Jin
JJ
Rochtchina
Elena
E
Mitchell
Paul
P
Sue
Carolyn M
CM
D000368:Aged; D000369:Aged, 80 and over; D017242:Complement Factor H / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D009517:New South Wales; D015995:Prevalence; D012307:Risk Factors
C493495:CFH protein, human; D004272:DNA, Mitochondrial; D005819:Genetic Markers; D017242:Complement Factor H