Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans.

ABSTRACT:

Purpose

To estimate the population frequencies of all common mitochondrial variants and ancestral haplogroups among 1,999 subjects recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study, including 1,217 primary open-angle glaucoma (POAG) cases and 782 controls, and to identify ancestral subpopulations and mitochondrial mutations as potential risk factors for POAG susceptibility.

Methods

Subject classification by characteristic glaucomatous optic nerve findings and corresponding visual field defects, as defined by enrolling glaucoma specialists, stereo disc photography, phlebotomy, extraction of total DNA from peripheral blood or saliva, DNA quantification and normalization, PCR amplification of whole mitochondrial genomes, Ion Torrent deep sem

SUBMITTER: Collins DW 

PROVIDER: S-EPMC4872278 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature