Polymorphisms in <i>CYP1B1</i> gene and the risk of suffering Primary Open-Angle Glaucoma: Systematic review and meta-analysis

Calero-Dueñas, Noelia; Mateos-Olivares, Milagros; Ussa, Fernando; Juberías, J.R.; Marcos, Miguel; Pastor‐Idoate, Salvador; Fernandez-Bueno, Iván

doi:10.1177/11206721221077621

Cited by 4 publications

(3 citation statements)

References 40 publications

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“…A previous study shows that L432V generates oxidative stress resulting from higher reactive oxygen species in retinal pigment epithelial cells and might lead to apoptotic changes causing retinal ganglion cell loss and glaucoma in an animal model 39 . Also, several studies have shown that CYP1B1 L432V is associated with glaucoma 22,39–43 . In this study, polymorphisms CYP1B1 L432V and MYOC R76K are associated with POAG suspects, which warrants additional data to explore their combined role.…”

Section: Discussionmentioning

confidence: 62%

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Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family

Kader,

Devarajan,

Vijayan

et al. 2023

Journal of Glaucoma

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Precis: A pathogenic autosomal dominant MYOC mutation N480K detected in six generations of an Indian family is primarily responsible for JOAG and adult-onset POAG, emphasizing the importance of screening this mutation at a younger age. Purpose: To screen myocilin mutations in a large South Indian family with early-onset Juvenile (JOAG) and adult-onset primary open-angle glaucoma (POAG) Methods: In a large South Indian family with 20 members, eight members diagnosed as JOAG, seven members as POAG, four members as JOAG suspect, and one member as POAG suspect were screened for myocilin (MYOC) mutations using Sanger sequencing. Whole exome sequencing was performed on clinically suspected JOAG/ POAG individuals. Results: Myocilin gene mutation N480K (c.1440C>G) was detected in 20 family members including proband, of whom 8 were JOAG and 7 were POAG patients, three JOAG suspects and two were unaffected. Among the unaffected carriers, one was less than five years old, and another was 25 years old. The earliest to develop the disease was a ten-year-old child. The penetrance of the mutation was 95% over ten years of age. This family had JOAG/POAG suspects with no N480K MYOC mutation and they were further screened for other mutations using whole-exome sequencing. Polymorphisms CYP1B1 L432V and MYOC R76K were detected in three JOAG/POAG suspects, and among these three, one had another CYP1B1 polymorphic variant R368H. The presence of the CYP1B1 polymorphism along with a MYOC polymorphic variant among the JOAG/POAG suspects needs additional studies to explore their combined role in the onset of glaucoma. Conclusions: This study reveals that MYOC mutation is primarily responsible for JOAG and adult-onset POAG in the Kadaladi family, emphasizing the importance of screening for this mutation at a younger age for early treatment.

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Section: Discussionmentioning

confidence: 62%

“…39 Also, several studies have shown that CYP1B1 L432V is associated with glaucoma. 22,[39][40][41][42][43] In this study, polymorphisms CYP1B1 L432V and MYOC R76K are associated with POAG suspects, which warrants additional data to explore their combined role.…”

Section: Discussionmentioning

confidence: 99%

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family

Kader,

Devarajan,

Vijayan

et al. 2023

Journal of Glaucoma

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“…[ 105 ] The prevalence rate of pathogenic variation in the CYP1B1 gene was higher in JOAG as compared to POAG. [ 106 ]…”

Section: Cytochrome P450 Family 1 Subfamily B Polypeptide 1 Gene (Cyp...mentioning

confidence: 99%

Molecular genetics of primary open-angle glaucoma

Yadav

Bhardwaj

Yadav

et al. 2023

Indian Journal of Ophthalmology

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Glaucoma is a series of linked optic diseases resulting in progressive vision loss and total blindness due to the acquired loss of retinal ganglion cells. This harm to the optic nerve results in visual impairment and, ultimately, total blindness if left untreated. Primary open-angle glaucoma (POAG) is the most frequent variety within the large family of glaucoma. It is a multifaceted and heterogeneous condition with several environmental and genetic variables aiding in its etiology. By 2040, there will be 111.8 million glaucoma patients globally, with Asia and Africa accounting for the vast majority. The goal of this review is to elaborate on the role of genes (nuclear and mitochondrial) as well as their variants in the pathogenesis of POAG. PubMed and Google Scholar databases were searched online for papers until September 2022. Prevalence and inheritance patterns vary significantly across different ethnic and geographic populations. Numerous causative genetic loci may exist; however, only a few have been recognized and characterized. Further investigation into the genetic etiology of POAG is expected to uncover novel and intriguing causal genes, allowing for a more precise pathogenesis pattern of the disease.

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Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

Reis,

Seese,

Costakos

et al. 2024

Progress in Retinal and Eye Research

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Polymorphisms in CYP1B1 gene and the risk of suffering Primary Open-Angle Glaucoma: Systematic review and meta-analysis

Cited by 4 publications

References 40 publications

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family

Molecular genetics of primary open-angle glaucoma

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

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