Mutation spectrum of<i>CYP1B1</i>in Chinese patients with primary open-angle glaucoma

Gong, Bo; Qu, Chao; Li, Xiulan; Shi, Yi; Lin, Ying; Zhou, Yu; Shuai, Ping; Yang, Yin; Liu, Xiaoqi; Zhang, Dingding; Yang, Zhenglin

doi:10.1136/bjophthalmol-2014-306054

Cited by 16 publications

(10 citation statements)

References 20 publications

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“…Glaucoma is a heterogeneous disease that represents the second primary cause of irreversible loss of eyesight worldwide [23,24]. Globally, ~64.3 million individuals are diagnosed with glaucoma.…”

Section: Cyp1b1 In Glaucomamentioning

confidence: 99%

“…This prevalence is anticipated to increase to 76 million in 2020 [25] and 111.8 million in 2040 [26]. Glaucoma is a nonuniform group of neurodegenerative ocular disorders [27] characterized by several clinical features that include visual field defects, retinal ganglion cell death, and progressive degeneration of the optic nerve [23]. The primary source of the progressive degeneration of the optic nerve is the occurrence of a lesion in the axons of the retinal ganglion cells [28].…”

Section: Cyp1b1 In Glaucomamentioning

confidence: 99%

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CYP1B1 gene: Implications in glaucoma and cancer

Alsubait¹,

Aldossary²,

Rashid³

et al. 2020

J. Cancer

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Glaucoma is a serious disease that can lead to irreversible loss of vision. Patients with primary congenital glaucoma may have elevated intraocular pressure. Hypertension causes damages to intraocular structures and affects the Schlemm's canal, collector channels, trabecular meshwork, and optic nerve's molecular structures. An important gene that is defective in patients with glaucoma is CYP1B1, a gene associated with optic nerve deterioration. CYP1B1is a key enzyme involved in the metabolism of exogenous and endogenous compounds. Also, it is critical in the detoxification of pre-carcinogens, such as polycyclic aromatic hydrocarbons and estrogen. It catalyzes their conversion into metabolites subsequently eliminated from the body. In malignant tumors, the CYP1B1 promoter is hypomethylated. CYP1B1 overexpression results in the conversion of estrogens to quinone forms, which bind with DNA and create a predisposition for cancer in several organs, such as the brain, breast, and ovary. Increased cytokine interleukin-6 and leptin lead to elevated CYP1B1 activity, which possibly causes cancer. In addition, the expression of aromatic hydrocarbon receptors is increased in tumor tissues, and it elevates oxidative stress and cell growth. TCGA database analysis showed increased survival at bladder and renal carcinoma when CYP1B1 expression is low. Therefore, alteration of CYP1B1 expression may suggest a therapeutic benefit for multiple diseases such as glaucoma and cancer.

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Section: Cyp1b1 In Glaucomamentioning

confidence: 99%

Section: Cyp1b1 In Glaucomamentioning

confidence: 99%

CYP1B1 gene: Implications in glaucoma and cancer

Alsubait¹,

Aldossary²,

Rashid³

et al. 2020

J. Cancer

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show abstract

“…Several studies have reported that POAG patients express only mutated CYP1B1 (Melki et al, 2004;Lopez-Garrido et al, 2006;Chakrabarti et al, 2007;Kumar et al, 2007;Suri et al, 2008;Hilal et al, 2010;Lopez-Garrido et al, 2010;Milla et al, 2013;Zhou et al, 2013). Some studies have also observed an association between single nucleotide polymorphisms (SNPs) in the CYP1B1 gene and POAG incidence (Melki et al, 2005;Acharya et al, 2006;Bhattacharjee et al, 2008;Burdon et al, 2010;Fan et al, 2010;Patel et al, 2012;Buentello-Volante et al, 2013;Gong et al, 2015;Micheal et al, 2015;Williams et al, 2015). On the other hand, a meta-analysis conducted by Dong et al (2012) showed the absence of any correlation between POAG and polymorphisms at the SNP sites rs1056836, rs10012, rs1056837, rs1056827, rs2567206, and rs180040.…”

Section: Introductionmentioning

confidence: 99%

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

Wang¹,

Li²,

Li³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Mutations in the CYP1B1 gene were detected in primary openangle glaucoma (POAG) patients. However, the association between these mutations and the incidence of POAG remains to be elucidated. Here, we have conducted a meta-analysis to analyze this correlation, using relevant studies obtained from an extensive search of various electronic databases, including EMBase, Web of Science, and PubMed. The extracted studies were selected for the meta-analysis based on the inclusion and exclusion criteria. The quality of each included study was assessed by the Newcastle- Ottawa scale (NOS), and the I 2 value was calculated to evaluate the heterogeneity between studies. The combined effect size was presented as the odds ratio (OR), and confidence intervals (CI) were used to assess the association between POAG and CYP1B1 mutations. Eight studies, each with a high NOS score, were included in the analysis. Compared to the mutant allele, the wild-type allele of the rs180040 polymorphism in POAG patients showed a 12% decrease in OR (OR = 0.88, 95%CI = 0.76-1.00); also, the wild-type allele of rs1056827 showed a 23% decrease in OR of the incidence of POAG (OR = 0.77, 95%CI = 0.60-0.99). However, the latter result was controversial. Polymorphisms at rs1056836, rs10012, and rs1056837 were not correlated with the incidence of POAG (using any evaluation model). In conclusion, three of the tested SNPs in the CYP1B1 gene were correlated with POAG; however, the SNPs rs180040 and rs1056827 showed an association with risk of POAG. These results must be further validated with larger-scale evaluations.

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“…Among these, nine identified loci provided additional ophthalmological diagnostic information. For instance, OPA3 mutations are associated with optic atrophy [24], BEST1 mutations are associated with best vitelliform macular dystrophy (BEST) [27][28][29][30], TSPAN12 mutations are associated with familial exudative vitreoretinopathy (FEVR) [35], PAX6 mutation are associated with aniridia and Peter's anomaly [48], and CYP1B1 mutations are associated with glaucoma [45]. In addition, we also identified a monoallelic mutation in BMP4, which has been mostly associated with microphthalmia [40] or facial clefts [49].…”

Section: Discussionmentioning

confidence: 84%

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

Fan

Luo

et al. 2020

BMC Ophthalmol

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Background: Congenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients. Methods: Patients (n = 53) who were clinically diagnosed with CC and their parents were recruited. Blood samples were collected in our hospital. Mutations were detected by panel-based next-generation DNA sequencing (NGS) targeting 792 genes frequently involved in common inherited eye diseases. Results: We identified variants in 10/37 cases (27.02%) of sporadic CC and 14/16 cases (87.5%) of familial CC, which indicated a significant difference (P = 0.000). Of the 13 variants identified in sporadic cases, nine were previously reported mutations, and three were novel mutations, including one de novo mutation (CRYBB2 c.487C > T). The most frequent variants in our cohort were in crystallins and cytoskeletal genes (5/27, 18.52%), followed by proteins associated with X-linked syndromic conditions (14.81%) and transcriptional factors (11.11%). Additional information on the possibility of complications with inherited ocular or systemic diseases other than CC was provided in 17/27 (62.96%) variants. Conclusions: These results contribute to expanding the mutation spectrum and frequency of genes responsible for CC. Targeted NGS in CC provided significant diagnostic information and enabled more accurate genetic counselling. This study reports the different distributions of mutation genes in familial and sporadic CC cases.

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Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Abstract: This study provides a mutation spectrum of CYP1B1 resulting in POAG development in a Chinese population, which may demonstrate an involvement of the gene in a proportion of subjects with POAG and help to improve our understanding of the pathogenesis of CYP1B1-associated POAG.

Cited by 16 publications

References 20 publications

CYP1B1 gene: Implications in glaucoma and cancer

CYP1B1 gene: Implications in glaucoma and cancer

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

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