ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION

Quiroz-Casian, Natalia; Lozano-Giral, David; Miranda‐Duarte, Antonio; García-Montalvo, Iván Antonio; Rodríguez-Loaiza, José Luis; Zenteno, Juan Carlos

doi:10.1097/iae.0000000000001508

Cited by 3 publications

(2 citation statements)

References 26 publications

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“…Some of them have identified specific SNPs located in genes involved in the PVR pathways, which may be involved in the disease pathogenesis and represent potential predictive factors for PVR development [ 9 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ]. Some genetic association studies performed in the last two decades have also highlighted the potential of various gene polymorphisms of inflammatory mediators and growth factors as new biomarkers in PVR pathogenesis as well as a potential tool in its diagnosis and treatment [ 9 , 29 , 30 , 32 , 36 , 37 ].…”

Section: Discussionmentioning

confidence: 99%

Inflammation and Oxidative Stress Gene Variability in Retinal Detachment Patients with and without Proliferative Vitreoretinopathy

Lumi

Ravnik‐Glavač

et al. 2023

Genes

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This study investigated the association between certain genetic variations and the risk of developing proliferative vitreoretinopathy (PVR) after surgery. The study was conducted on 192 patients with primary rhegmatogenous retinal detachment (RRD) who underwent 3-port pars plana vitrectomy (PPV). The distribution of single nucleotide polymorphisms (SNPs) located in genes involved in inflammation and oxidative stress associated with PVR pathways were analyzed among patients with and without postoperative PVR grade C1 or higher. A total of 7 defined SNPs of 5 genes were selected for genotyping: rs4880 (SOD2); rs1001179 (CAT); rs1050450 (GPX1); rs1143623, rs16944, rs1071676 (IL1B); rs2910164 (MIR146A) using competitive allele-specific polymerase chain reaction. The association of SNPs with PVR risk was evaluated using logistic regression. Furthermore, the possible association of SNPs with postoperative clinical parameters was evaluated using non-parametric tests. The difference between two genotype frequencies between patients with or without PVR grade C1 or higher was found to be statistically significant: SOD2 rs4880 and IL1B rs1071676. Carriers of at least one polymorphic IL1B rs1071676 GG allele appeared to have better postoperative best-corrected visual acuity only in patients without PVR (p = 0.070). Our study suggests that certain genetic variations may play a role in the development of PVR after surgery. These findings may have important implications for identifying patients at higher risk for PVR and developing new treatments.

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Section: Discussionmentioning

confidence: 99%

Inflammation and Oxidative Stress Gene Variability in Retinal Detachment Patients with and without Proliferative Vitreoretinopathy

Lumi

Ravnik‐Glavač

et al. 2023

Genes

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“…Quiroz-Casian and colleagues genotyped 380 Mexican patients (180 patients with IRD and 200 matched controls) for rs1042522 in the p53 gene; this gene had previously been found to influence proliferative vitreoretinopathy development in patients of European ancestry [ 33 ]. The study found the C allele conferred 1.4 increased odds of RD (95% CI 1.01–1.9 OR:1.4) in this population.…”

Section: Genetic Mutations In Idiopathic Retinal Detachmentmentioning

confidence: 99%

The Genetic Architecture of Non-Syndromic Rhegmatogenous Retinal Detachment

Moledina

Charteris

Chandra

2022

Genes

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Rhegmatogenous retinal detachment (RRD) is the most common form of retinal detachment (RD), affecting 1 in 10,000 patients per year. The condition has significant ocular morbidity, with a sizeable proportion of patients obtaining poor visual outcomes. Despite this, the genetics underpinning Idiopathic Retinal Detachment (IRD) remain poorly understood; this is likely due to small sample sizes in relevant studies. The majority of research pertains to the well-characterised Mende lian syndromes, such as Sticklers and Wagners, associated with RRD. Nevertheless, in recent years, there has been an increasing body of literature identifying the common genetic mutations and mechanisms associated with IRD. Several recent Genomic Wide Association Studies (GWAS) studies have identified a number of genetic loci related to the development of IRD. Our review aims to provide an up-to-date summary of the significant genetic mechanisms and associations of Idiopathic RRD.

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COL2A1 protective variant reduces sporadic rhegmatogenous retinal detachment severity

Ng¹,

Chen

et al. 2020

Experimental Eye Research

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ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION

Abstract: The C allele for rs1042522 in p53 was genetically associated with a higher risk for RD but not for PVR in this cohort. This is the first association study attempting replication of PVR-associated risk alleles in a nonwhite population.

Cited by 3 publications

References 26 publications

Inflammation and Oxidative Stress Gene Variability in Retinal Detachment Patients with and without Proliferative Vitreoretinopathy

Inflammation and Oxidative Stress Gene Variability in Retinal Detachment Patients with and without Proliferative Vitreoretinopathy

The Genetic Architecture of Non-Syndromic Rhegmatogenous Retinal Detachment

COL2A1 protective variant reduces sporadic rhegmatogenous retinal detachment severity

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