Article
Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Feb 2021
Kondkar Altaf A, Azad Taif A, Sultan Tahira, Osman Essam A, Almobarak Faisal A, Al-Obeidan Saleh A
Abstract excerpt
We investigated the association between variants rs12997 in activin A receptor type I (ACVR1) and rs1043784 in BMP6 located in the 3' untranslated region, and primary open-angle glaucoma (POAG). The retrospective case-control study used TaqMan real-time PCR assay to genotype 400 subjects, including 150 patients with POAG and 250 controls. The minor 'G' allele of rs12997 in ACVR1 showed significant association...
Read the complete abstract on PubMed