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

Authors Abu-Amero KK, Sultan T, Al-Obeidan SA, Kondkar AA

Received 2 April 2018

Accepted for publication 25 May 2018

Published 10 August 2018 Volume 2018:12 Pages 1413—1416


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser

Khaled K Abu-Amero, Tahira Sultan, Saleh A Al-Obeidan, Altaf A Kondkar

Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

Abstract: Cytochrome P450 Family 1 Subfamily B Member 1 (CYP1B1; OMIM# 601771) gene encodes one of the cytochrome P450 family of enzymes. CYP1B1 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 CYP1B1 using automated Sanger sequencing to identify five known polymorphisms and one CYP1B1 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 CYP1B1 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.

Keywords: CYP1B1, genetics, mutation screening, POAG, Saudi Arabia

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