Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
| Autor: | Altaf A. Kondkar, Saleh A. Al-Obeidan, Khaled K. Abu-Amero, Tahira Sultan |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty genetic structures Open angle glaucoma CYP1B1 Population Glaucoma Compound heterozygosity medicine.disease_cause 03 medical and health sciences symbols.namesake 0302 clinical medicine Ophthalmology medicine education Gene Sanger sequencing Genetics Mutation education.field_of_study business.industry medicine.disease eye diseases body regions 030104 developmental biology 030221 ophthalmology & optometry symbols sense organs business |
| Zdroj: | Clinical Ophthalmology. 12:1413-1416 |
| ISSN: | 1177-5483 |
| DOI: | 10.2147/opth.s169943 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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