Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from saint-Petersburg

Motushchuk, A. E.; Komarova, T. Yu.; Грудинина, Н. А.; Rakhmanov, Vyacheslav V; Mandelshtam, M. Yu.; Astakhov, Yury S.; Vasilyev, V. B.

doi:10.1134/s1022795409120102

Cited by 4 publications

(2 citation statements)

References 13 publications

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“…Forty-one articles were further excluded for the following reasons: seven were not case control studies [21][22][23][24][25][26][27] ; 27 articles did not provide genotype or allele data ; and seven articles did not provide proper OR/RR values. 13,[55][56][57][58][59][60] Thus, 108 studies were finally included in this meta-analysis. 10,12,…”

Section: Literature Searchmentioning

confidence: 99%

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Chen

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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for genetic studies of POAG. All case control studies investigating the association between singlenucleotide polymorphisms (SNPs) and POAG risk were included. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by fixed-or random-effect model. RESULTS. This meta-analysis included 108 case control studies involving 35,389 POAG patients and 51,742 controls. The pooled results showed a significant association between 20 SNPs in 12 genes (148Asp/Glu in APE1 gene; rs449647 in APOE gene; rs1052990 and rs4236601 in CAV1/CAV2 gene; rs1799750 in MMP gene; c.603T3A (Met98Lys) in OPTN gene; rs7081455 in PLXDC2 gene; rs1279683 in SLC23A2 gene; 372 T/C in TIMP1 gene; rs1927911, rs2149356, rs4986791, rs7037117, and rs10759930 in TLR4 gene; rs4656461 in TMCO1 gene; 399Arg/Gln in XRCC1 gene; and rs540782, rs547984, and rs693421 in ZP4 gene) with POAG. CONCLUSIONS. Based on the current meta-analysis, we indicate 20 SNPs in 12 genes (APE1, APOE, CAV1/CAV2, MMP, OPTN, PLXDC2, SLC23A2, TIMP1, TLR4, TMCO1, XRCC1, ZP4) as predictive risk factors for POAG. More studies with large sample sizes and various ethnicities are warranted in the future to provide more powerful evidence.

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Section: Literature Searchmentioning

confidence: 99%

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Chen

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…More recently, WDR36 has been described as a causative gene for adult onset POAG [21]. Located on the cytogenic band, at the 5q22.1 location, WDR36 is coregulated with IL2 involving T cell activation, and is highly expressed as 5.9 and 2.5 kb transcripts in ocular tissue such as the lens, iris, sclera, ciliary muscles, ciliary body, trabecular meshwork, retina, optic nerve) [15,19,[21][22][23][24][25]. While the exact function is still debated, depletion of WDR36 mRNA in cultured cells causes apoptotic cell death with decreased 21S rRNA and delay of 18S rRNA maturation [19,20].…”

Section: Discussionmentioning

confidence: 99%

WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma

Meer

Alemán

Ross

2021

Genes

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WDR36 is one of a number of genes implicated in the pathogenesis of adult-onset primary open angle glaucoma (POAG). Here we describe in detail the phenotype of a patient with pathogenic variation in WDR36 who presented with a protracted history of central vision loss. On exam visual acuities were at 20/100 level, had a tritan color defect and showed central arcuate visual field defects on visual field testing. Enlarged cup-to-disk ratios with normal intraocular pressures were associated with severe thinning of the ganglion cell layer (GCL) and retinal nerve fiber layer consistent with a clinical diagnosis of normal tension glaucoma. Full-field electroretinograms revealed a severe inner retinal dysfunction with reduced amplitudes and remarkably delayed timings of the b-wave, but preserved photoreceptor (a-wave) function. The pattern described herein recapitulates some of the findings of an animal model of WDR36-associated POAG and suggests a mechanism of disease that involves a retina-wide inner retinal dysfunction and neurodegeneration beyond the GCL. Further detailed structural and functional characterizations of patients with a pathogenic variant in the WDR36 gene are required to confirm these findings.

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Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

Huang

Wen

Guo

et al. 2014

Invest. Ophthalmol. Vis. Sci.

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Twenty-two mutations in MYOC, WDR36, OPA1, and OPTN were detected in 25 of the 683 patients with primary glaucoma, including nine MYOC mutations in 11 patients, nine WDR36 mutations in 11 patients, three OPA1 mutations in 3 patients, and one OPTN mutation in a patient who also carried a MYOC mutation. Eight mutations in MYOC, WDR36, and OPA1 in 8 of the 343 PACG patients are of uncertain significance and need to be analyzed further.

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Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from saint-Petersburg

Cited by 4 publications

References 13 publications

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

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