Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion

Posch-Pertl, Laura; List, Wolfgang; Michelitsch, Monja; Pinter-Hausberger, Silke; Berisha, Bujar; Posch, Florian; Kloeckl, Lorenz; Renner, Wilfried; Weger, Martin

doi:10.1080/13816810.2022.2092754

Cited by 1 publication

(1 citation statement)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are also studies that selected SNPs from genes relevant to inflammation and oxidative stress, similarly to our gene selection approach and assessed their possible effect on the development of RVO. Heme oxygenase-1 is an important antioxidant enzyme that inhibits proinflammatory responses; no association was found between heme oxygenase-1 −413A>T and RVO [ 43 ]. Maier et al studied multiple SNPs from different cytokines, including interleukin (IL)1β −511C>T, IL1 receptor antagonist (IL1RN) 1018T>C, IL4 −584C>T, IL6 −174G>C, IL8 −251A>T, IL10 −592C>A, IL18 183A>G, C-C motif chemokine ligand 5 (CCL5) −403G>A, monocyte chemoattractant protein (MCP)-1/CCL2 −2518A>G and tumor necrosis factor (TNF)-α −308G>A; however, none of them were implicated in the development of RVO [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study

Ragkousis,

Kazantzis,

Georgalas

et al. 2024

Genes

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%