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

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 cytoch...

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Autores principales:	Abu-Amero KK, Sultan T, Al-Obeidan SA, Kondkar AA
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2018
Materias:	CYP1B1 genetics mutation screening PAOG Saudi Arabia Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/e2d05a3ef27848f8a4d5c68626e8e321
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spelling	oai:doaj.org-article:e2d05a3ef27848f8a4d5c68626e8e3212021-12-02T11:44:13ZAnalysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin1177-5483https://doaj.org/article/e2d05a3ef27848f8a4d5c68626e8e3212018-08-01T00:00:00Zhttps://www.dovepress.com/analysis-of-cyp1b1-sequence-alterations-in-patients-with-primary-open--peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Khaled 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 ArabiaAbu-Amero KKSultan TAl-Obeidan SAKondkar AADove Medical PressarticleCYP1B1geneticsmutation screeningPAOGSaudi ArabiaOphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 12, Pp 1413-1416 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	CYP1B1 genetics mutation screening PAOG Saudi Arabia Ophthalmology RE1-994
spellingShingle	CYP1B1 genetics mutation screening PAOG Saudi Arabia Ophthalmology RE1-994 Abu-Amero KK Sultan T Al-Obeidan SA Kondkar AA Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
description	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
format	article
author	Abu-Amero KK Sultan T Al-Obeidan SA Kondkar AA
author_facet	Abu-Amero KK Sultan T Al-Obeidan SA Kondkar AA
author_sort	Abu-Amero KK
title	Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
title_short	Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
title_full	Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
title_fullStr	Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
title_full_unstemmed	Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
title_sort	analysis of cyp1b1 sequence alterations in patients with primary open-angle glaucoma of saudi origin
publisher	Dove Medical Press
publishDate	2018
url	https://doaj.org/article/e2d05a3ef27848f8a4d5c68626e8e321
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Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin

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