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Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in
Khaled K Abu-Amero1, Vicente M Cabrera, José M Larruga
1Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. abuamero@gmail.com
Purpose:
To investigate whether different mitochondrial DNA (mtDNA) haplogroups have a role on the development of pseudoexfoliation glaucoma (PEG) in the Saudi Arab population.
Methods:
The mtDNA regulatory region and coding regions comprising mtDNA haplogroup diagnostic polymorphisms were sequenced in patients with PEG (n=94), healthy matched controls (free of PEG; n=112) and a healthy Saudi Arab population group (n=810).
Results:
The Eurasian haplogroup T and the Sub-Saharan African Haplogroup L2 confer susceptibility to PEG, whereas the Eurasian haplogroup N1 was associated with reduced risk to develop PEG in the Saudi Arab population.
Conclusions:
Mitochondrial haplogroups T and L2 may play a role in the development of PEG in the Saudi Arabian population.
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