Ontology highlight
ABSTRACT:
SUBMITTER: Collins DW
PROVIDER: S-EPMC5886029 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Collins David W DW Gudiseva Harini V HV Chavali Venkata R M VRM Trachtman Benjamin B Ramakrishnan Meera M Merritt William T WT Pistilli Maxwell M Rossi Rebecca A RA Blachon Stephanie S Sankar Prithvi S PS Miller-Ellis Eydie E Lehman Amanda A Addis Victoria V O'Brien Joan M JM
Investigative ophthalmology & visual science 20180401 5
<h4>Purpose</h4>We investigate the function of the V83I polymorphism (m.6150G>A, rs879053914) in the mitochondrial cytochrome c oxidase subunit 1 (MT-CO1) gene and its role in African American (AA) primary open-angle glaucoma (POAG).<h4>Methods</h4>This study used Sanger sequencing (1339 cases, 850 controls), phenotypic characterization of Primary Open-Angle African American Glaucoma Genetics study (POAAGG) cases, a masked chart review of CO1 missense cases (V83I plus M117T, n = 29) versus wild ...[more]