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Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study
Edith E Mueller1, Elena Schaier, Susanne M Brunner
1Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
Background:
Onset and development of the multifactorial disease age-related macular degeneration (AMD) are highly interrelated with mitochondrial functions such as energy production and free radical turnover. Mitochondrial dysfunction and overproduction of reactive oxygen species may contribute to destruction of the retinal pigment epithelium, retinal atrophy and choroidal neovascularization, leading to AMD. Consequently, polymorphisms of the mitochondrial genome (mtDNA) are postulated to be susceptibility factors for this disease. Previous studies from Australia and the United States detected associations of mitochondrial haplogroups with AMD. The aim of the present study was to test these associations in Middle European Caucasians.
Methodology/Principal Findings:
Mitochondrial haplogroups (combinations of mtDNA polymorphisms) and mitochondrial CR polymorphisms were analyzed in 200 patients with wet AMD (choroidal neovascularization, CNV), in 66 patients with dry AMD, and in 385 controls from Austria by means of multiplex primer extension analysis and sequencing, respectively. In patients with CNV, haplogroup H was found to be significantly less frequent compared to controls, and haplogroup J showed a trend toward a higher frequency compared to controls. Five CR polymorphisms were found to differ significantly in the two study populations compared to controls, and all, except one (T152C), are linked to those haplogroups.
Conclusions/Significance:
It can be concluded that haplogroup J is a risk factor for AMD, whereas haplogroup H seems to be protective for AMD.
Insights
Mitochondrial haplogroup J increases age-related macular degeneration (AMD) risk, while haplogroup H appears protective. This study investigated AMD associations in Middle European Caucasians.
Area of Science:
- Genetics
- Ophthalmology
- Mitochondrial biology
Background:
- Age-related macular degeneration (AMD) is linked to mitochondrial dysfunction, impacting energy production and reactive oxygen species.
- Mitochondrial DNA (mtDNA) polymorphisms are potential susceptibility factors for AMD development.
- Previous research indicated associations between mitochondrial haplogroups and AMD in Australian and US populations.
Purpose of the Study:
- To investigate the association between mitochondrial haplogroups and AMD in Middle European Caucasians.
- To determine if specific mitochondrial haplogroups influence AMD susceptibility or protection.
Main Methods:
- Analysis of mitochondrial haplogroups and mitochondrial control region (CR) polymorphisms in 200 wet AMD, 66 dry AMD patients, and 385 controls.
- Utilized multiplex primer extension analysis and sequencing for genetic analysis.
Main Results:
- Haplogroup H was significantly less frequent in patients with choroidal neovascularization (CNV) compared to controls.
- Haplogroup J showed a trend toward higher frequency in CNV patients.
- Five CR polymorphisms, linked to haplogroups, showed significant differences between study populations and controls.
Conclusions:
- Mitochondrial haplogroup J is identified as a risk factor for developing AMD.
- Mitochondrial haplogroup H is suggested to have a protective effect against AMD.
