ArticleMolecular vision2008
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.Molecular vision · 2012Pooled it
- Pathogenicity patterns in cytochrome P450 family.Bioinformatics advances · 2025Article
- Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?Journal of clinical medicine · 2022Review
- Genomics of rare genetic diseases-experiences from India.Human genomics · 2019Review
- Article
- Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Transactions of the American Ophthalmological Society · 2014Article
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.Molecular vision · 2013Article
- Article
- Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.Molecular vision · 2012Article
- Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.Molecular vision · 2011Article
- IGVBrowser--a genomic variation resource from diverse Indian populations.Database : the journal of biological databases and curation · 2010Article
- Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population.Molecular vision · 2010Article
- Association of IL1A and IL1B loci with primary open angle glaucoma.BMC medical genetics · 2010Article
- Molecular complexity of primary open angle glaucoma: current concepts.Journal of genetics · 2009Review
- Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.BMC medical genetics · 2009Article
- Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.Molecular vision · 2009Article
- The genetics of primary open-angle glaucoma: a review.Experimental eye research · 2009Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDefects in cytochrome P450 1B1 (CYP1B1) cause primary congenital glaucoma. However, defects in the gene have also been reported in primary open-angle glaucoma (POAG). Since POAG is primarily a complex disease, we examined the potential of coding single nucleotide polymorphisms (cSNPs) in the gene for association with the disease.
methodsFive coding SNPs - c.514 C>G (Arg48Gly), c.727 G>T (Ala119Ser), c.1666 C>G (Leu432Val), c.1719 C>T (Asp449Asp), and c.1730 A>G (Asn453Ser) - were genotyped in 264 unrelated POAG patients and 95 controls. In addition, 542 normal individuals selected from various ethnic groups representing the Indian population were also genotyped for these cSNPs. The patterns of linkage disequilibrium between the SNPs and haplotype variations for comparison between POAG patients and controls as well as different ethnic groups of the Indian population were determined using Haploview. Allelic variants of Leu432Val were cloned by site-directed mutagenesis of normal CYP1B1 cDNA, which were used for transfection of retinal pigment epithelium (RPE) cells. The generation of reactive oxygen species (ROS) was quantified by measuring fluorescence emission by degradation of CM-H2DCFDA using a fluoremeter.
resultsThe c.1666G allele of the Leu432Val in CYP1B1 showed a statistically significant higher representation among POAG patients compared to controls (p=0.0001; Odds ratio=6.027; 95% CI: 3.863-9.401) suggesting it to be a potential risk allele toward disease predisposition. Analysis of genotype frequencies of the polymorphism between the two groups demonstrated GG as a potential risk genotype (p=0.0001; Odds ratio=15.505; 95% CI: 5.529-43.474) for the disease. CYP1B1 Val432 was estimated to generate higher ROS in RPE cells compared to its allelic variant (Leu432; p=0.0245 for 15 min and p=0.0197 for 30 min). Comparison of haplotype diversities revealed CGGTA as the risk haplotype for the disease (p=0.0001, by Fisher's exact test).
conclusionsWe report CYP1B1 c.1666G (Val432) as a susceptible allele for POAG and CGGTA as the risk haplotype for the disease. Higher ROS generation by Val432 in CYP1B1 might lead to apoptotic change that leads to glaucoma. Remarkable variation of the cSNPs observed among ethnic groups of India could provide insight for future epidemiological studies on POAG in these population groups.
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18483560PMC2375325W1577867902What OpenQuestion holds
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