ArticleEye (London, England)2012
Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma.
Article in Eye (London, England), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.Japanese journal of ophthalmology · 2025Article
- Insights intoLife (Basel, Switzerland) · 2025Review
- A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.Indian journal of ophthalmology · 2023Article
- Identification and Characterization of CYP6 Family Genes from the Oriental Fruit Moth (Insects · 2022Article
- Mutational analysis ofSaudi journal of biological sciences · 2022Article
- Absence of Cytochrome P450-1b1 Increases Susceptibility of Pressure-Induced Axonopathy in the Murine Retinal Projection.Frontiers in cell and developmental biology · 2021Article
- Compound heterozygous mutations inInternational journal of ophthalmology · 2019Article
- Two novel variants inInternational journal of ophthalmology · 2019Article
- Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.Scientific reports · 2018Article
- Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018Article
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- Glaucoma Genes and Mechanisms.Progress in molecular biology and translational science · 2015Review
- Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition.Drug metabolism reviews · 2014Review
- Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Transactions of the American Ophthalmological Society · 2014Article
- Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Molecular vision · 2014Article
- Juvenile-onset open-angle glaucoma - A clinical and genetic update.Survey of ophthalmologyReview
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGlaucoma is one of the leading causes of blindness in the world. Juvenile-onset open-angle is a subtype of glaucoma. In this context, we investigate the possible mutations in the promoter and coding regions of the CYP1B1 gene among patients suffering juvenile-onset open-angle glaucoma (JOAG).
methodsThe CYP1B1 gene was analysed for mutations in 61 unrelated Taiwanese probands with JOAG and in 100 healthy control subjects. Genomic DNA was extracted from peripheral blood leukocytes and then subjected to PCR. The amplified products were screened for base mutations by autosequence. Next, data from the two groups were compared using the χ(2) test. Additionally, three-dimensional (3D) modelling of the human wild-type and p.R390H mutation was performed using SWISS-MODEL, an automated homology modelling program. Finally, the figure was prepared for the modelled structures by using the Accelrys ViewerLite 5.0 program.
resultsAnalysis results indicated two CYP1B1 mutations and five polymorphisms. The prevalence of CYP1B1 gene mutations in this study was 4.92% (3/61). The mutations included a missense mutation (p.Arg390His; 2/3) and a mutation in the 5'-untranslated region (c.1-313A>C; 1/3). Moreover, computer-assisted modelling revealed that this p.R390H mutation affects the intra-molecular interaction in the hydrogen-bonding interaction with Glu387 and Asn428, thus altering significantly the efficiency of the haem-binding and proper folding of the molecule.
conclusionsAs a result, the p.Arg390His mutation might affect the protein structure and, ultimately, the normal function of CYP1B1. Therefore, we suggest that the c.1169G>A (p.Arg390His) mutation of CYP1B1 may be a risk factor for the development of JOAG.
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