Genetic Research of Retinal Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (10 October 2023) | Viewed by 860

Special Issue Editor

Asia Pacific Centre for Animal Health, Faculty of Science, The University of Melbourne, Melbourne, Australia
Interests: viral and bacterial diseases; whole genome sequencing; bacterial pathogenesis; establishment of diagnostic methods; vaccines development

Special Issue Information

Dear Colleagues,

Gene-based therapeutics have shown enormous potential for the treatment of inherited and acquired retinal diseases; however, there are some important limitations that need to be acknowledged and addressed in future research. For example, genes implicated in retinal diseases and their related pathophysiologic pathways still need to be elucidated.

The objective of this Special Issue is to provide prospects of currently used and novel genetic testing and diagnoses, gene-based therapeutic strategies, and their applications for retinal diseases.

Genome-editing techniques have shown their potential in the treatment of inherited retinal diseases, which still relies on the identification of appropriate therapeutic targets in disease pathophysiology. Microorganisms have also been shown to play a significant role in retinal diseases. The gut–retina axis may contribute to elucidating previously unknown pathways involved in retinal diseases, presenting a potential therapeutic avenue.

The research areas of this Special Issue may cover functional studies looking at the pathogenicity of disease-related genes rather than only bioinformatic approaches; retinal diseases’ molecular diagnoses and phenotype–genotype correlations; and more sophisticated knowledge of retinal biology and pathophysiology that contributes to the application of gene therapy.

Dr. Ling Zhu
Guest Editor

Manuscript Submission Information

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Keywords

  • genetic testing
  • gene therapy
  • diagnosis
  • pathophysiology

Published Papers (1 paper)

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Research

16 pages, 498 KiB  
Article
PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study
by Antonios Ragkousis, Dimitrios Kazantzis, Ilias Georgalas, Panagiotis Theodossiadis, Christos Kroupis and Irini Chatziralli
Genes 2024, 15(6), 712; https://doi.org/10.3390/genes15060712 - 30 May 2024
Viewed by 495
Abstract
Numerous studies have tried to evaluate the potential role of thrombophilia-related genes in retinal vein occlusion (RVO); however, there is limited research on genes related to different pathophysiological mechanisms involved in RVO. In view of the strong contribution of oxidative stress and inflammation [...] Read more.
Numerous studies have tried to evaluate the potential role of thrombophilia-related genes in retinal vein occlusion (RVO); however, there is limited research on genes related to different pathophysiological mechanisms involved in RVO. In view of the strong contribution of oxidative stress and inflammation to the pathogenesis of RVO, the purpose of the present study was to investigate the association of inflammation- and oxidative-stress-related polymorphisms from three different genes [apolipoprotein E (APOE), paraoxonase 1 (PON1) and stromal cell-derived factor 1 (SDF-1)] and the risk of RVO in a Greek population. Participants in this case-control study were 50 RVO patients (RVO group) and 50 healthy volunteers (control group). Blood samples were collected on EDTA tubes and genomic DNA was extracted. Genotyping of rs854560 (L55M) and rs662 (Q192R) for the PON1 gene, rs429358 and rs7412 for the APOE gene and rs1801157 [SDF1-3′G(801)A] for SDF-1 gene was performed using the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method. Multiple genetic models (codominant, dominant, recessive, overdominant and log-additive) and haplotype analyses were performed using the SNPStats web tool to assess the correlation between the genetic polymorphisms and the risk of RVO. Binary logistic regression analysis was used for the association analysis between APOE gene variants and RVO. Given the multifactorial nature of the disease, our statistical analysis was adjusted for the most important systemic risk factors (age, hypertension and diabetes mellitus). The dominant genetic model for the PON1 Q192R single nucleotide polymorphism (SNP) of the association analysis revealed that there was a statistically significant difference between the RVO group and the control group. Specifically, after adjusting for age and hypertension, the PON1 192 R allele (QR + RR) was found to be associated with a statistically significantly higher risk of RVO compared to the QQ genotype (OR = 2.51; 95% CI = 1.02–6.14, p = 0.04). The statistically significant results were maintained after including diabetes in the multivariate model in addition to age and hypertension (OR = 2.83; 95% CI = 1.01–7.97, p = 0.042). No statistically significant association was revealed between the other studied polymorphisms and the risk of RVO. Haplotype analysis for PON1 SNPs, L55M and Q192R, revealed no statistically significant correlation. In conclusion, PON1 192 R allele carriers (QR + RR) were associated with a statistically significantly increased risk of RVO compared to the QQ homozygotes. These findings suggest that the R allele of the PON1 Q192R is likely to play a role as a risk factor for retinal vein occlusion. Full article
(This article belongs to the Special Issue Genetic Research of Retinal Diseases)
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