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Francisco J. Ascaso, Isabel Pinilla, Tania Calvo, Laura Villén, Julio Montoya, María A. Del Buey, José A. Cristóbal, Laura Lavilla, Eduardo Ruiz-Pesini; Neovascular Age-related Macular Degeneration And Mitochondrial DNA Haplogroups In A Spanish Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3298.
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To investigate whether mitochondrial DNA haplogroups are associated with age-related macular degeneration (AMD) in a geographically defined area north east of Spain.
AMD patients were ascertained at the Department of Ophthalmology of ''Lozano Blesa'' University Clinic Hospital, Zaragoza, Spain. We assessed the association between mitochondrial DNA haplogroups and AMD in 91 AMD patients and 686 unrelated controls residing in the same city. Late-stage neovascular AMD was defined as described in the international AMD classification. Genetic analysis for mitochondrial DNA haplogroups was performed at the Department of Biochemistry and Molecular and Celular Biology at University of Zaragoza.
Haplogroup HV was the most frequent in AMD patients (54.9%) and controls (57.5%), followed by haplogroups U (20.9% and 22.6%, respectively), J (4.4% and 8.9%, respectively), and T (7.7% and 6.9%, respectively). There were no statistical significant differences between both groups (P > 0.05, chi-square test).
Although findings of associations between different mitochondrial DNA haplogroup types and AMD lesions have been previously reported, suggesting that these haplogroups may be genetic markers indicative of an individual’s susceptibility to AMD, present study did not show such association in our population.
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