Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin

• Published in: Clinical ophthalmology (Auckland, N.Z.) N.Z.), 2018-01, Vol.12, p.1413-1416
• Main Authors: Abu-Amero, Khaled K, Sultan, Tahira, Al-Obeidan, Saleh A, Kondkar, Altaf A
• Format: Article
• Language: English
• Subjects: Analysis; Care and treatment; CYP1B1; Cytochrome P-450; DNA sequencing; Enzymes; Genes; Genetic aspects; Genetic disorders; genetics; Glaucoma; Medical schools; mutation screening; Open-angle glaucoma; PAOG; Saudi Arabia; Short Report
• ISSN: 1177-5467; 1177-5483; 1177-5483
• DOI: 10.2147/OPTH.S169943

Cytochrome P450 Family 1 Subfamily B Member 1 ( ; OMIM# 601771) gene encodes one of the cytochrome P450 family of enzymes. mutations have been associated primarily with primary congenital glaucoma (PCG). Similar studies were reported in juvenile open-angle glaucoma, Rieger's and Peters anomalies. Reports of likely pathogenic sequence alterations in families affected with adult-onset primary open-angle glaucoma (POAG) triggered this investigation. We screened unrelated POAG cases and healthy controls for mutations in using automated Sanger sequencing to identify five known polymorphisms and one mutation (p.G61E) in a heterozygous status. The p.G61E mutation is known to cause PCG in a homozygous or compound heterozygous form, and thus, its presence here in a heterozygous form indicates carrier status. These findings suggest that may have no major role in the pathogenesis of POAG, at least, in the Saudi population. However, further investigations are needed to validate these findings in a larger cohort.