Mitochondrial DNA haplogroups associated with neovascular age‐related degeneration in a Spain population

Abstract

PurposeTo investigate whether mtDNA haplogroups are associated with neovacular AMD in a geographically defined area north east of Spain.MethodsAMD patients were ascertained at the Department of Ophthalmology of Lozano Blesa University Clinic Hospital, Zaragoza, Spain. We assessed the association between mtDNA haplogroups and neovascular AMD in 91 AMD patients and 656 unrelated controls residing in the same city. Late‐stage neovascular AMD was defined as described in the international AMD calssification. Genetic analysis for mtDNA haplogroups was performed at the Department of Biochemistry and Molecular and Celular Biology at University of Zaragoza.ResultsHaplogroup 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).ConclusionsAlthough findings of associations between different mtDNA 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.