Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Mrad, Meriem; Fekih-Mrissa, Najiba; Wathek, Cheima; Sayeh, Aicha; Maalej, A.; Rannen, R.; Nsiri, Brahim

doi:10.1177/1076029616629212

Cited by 5 publications

(3 citation statements)

References 43 publications

(65 reference statements)

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“…Another recent study of association APOE genotypes with retinal vein occlusion 12 also confirms a significant association of ε3/ε4 allele and ε4 allele to this thrombotic disorder.…”

Section: Discussionmentioning

confidence: 62%

“…9 APOE gene polymorphisms have been extensively studied in patients with cardiovascular disease as well as neurodegenerative disorders (Alzheimer disease and Parkinsonism). 10,11 Recently, a few studies have investigated the possible association of APOE genetic polymorphisms with DVT [3][4][5] as well as in other thrombotic disorders 12 ; however, its exact role in the etiopathogenesis of these diseases has not been fully elucidated.…”

Section: Introductionmentioning

confidence: 99%

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Thrombophilic risk factors are laterally associated with Apolipoprotein E gene polymorphisms in deep vein thrombosis patients: An Indian study

et al. 2018

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Introduction Deep vein thrombosis is a multifactorial disease with many acquired and genetic risk factors. Polymorphism in the APOE gene is an upcoming potential pathogenic factor whose role is unclear in deep vein thrombosis. Methods An equal number of deep vein thrombosis cases and controls (N = 100, each) were investigated for APOE gene polymorphisms along with known acquired and hereditable thrombophilic risk factors. APOE genotyping was done by polymerase chain reaction. Results The ε3/ε4 and ε2/ε3 APOE genotypes were commoner in deep vein thrombosis cases than controls but not statistically significant ( ε3/ε4 → 18% versus 11%, OR = 1.776, CI = 0.792–3.984, p = 0.16; ε2/ε3 →10% versus 9%, OR = 1.123, CI = 0.436–2.895, p = 0.809). However, the following risk factors were found to be laterally associated with APOE genotypes in cases of deep vein thrombosis: pregnancy with ε2/ε3 genotype positivity (N = 29; p = 0.019), recurrent pregnancy loss with ε3/ε3 genotype (N = 29; p = 0.016), normal antithrombin levels with ε3/ε3 genotype (N = 62; p = 0.03) and non-O blood group with ε3/ε4 genotype (N = 100; p = 0.023). Conclusion APOE genotypes have shown only a modest association with deep vein thrombosis and were not statistically significant. A lateral association of these genotypes with thrombophilic risk factors was observed which may be investigated further for the possible pathogenetic mechanisms and their therapeutic implications.

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“…Another recent study of association APOE genotypes with retinal vein occlusion 12 also confirms a significant association of ε3/ε4 allele and ε4 allele to this thrombotic disorder.…”

Section: Discussionmentioning

confidence: 62%

Section: Introductionmentioning

confidence: 99%

Thrombophilic risk factors are laterally associated with Apolipoprotein E gene polymorphisms in deep vein thrombosis patients: An Indian study

et al. 2018

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“…Apart from its atherogenic nature, the E4 allele is also a known strong genetic risk factor for Alzheimer’s disease as the low plasma APOE levels result in decreased brain b-amyloid clearance [ 47 ]. Additionally, the E4 allele has been implicated in RVO and nondiabetic retinopathy [ 48 , 49 ].…”

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

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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.

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Association of Apolipoprotein E gene polymorphism with the risk of T2DM and obesity among Egyptian subjects

Galal

Elmajeed

Elbaz

et al. 2021

Gene

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Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Cited by 5 publications

References 43 publications

Thrombophilic risk factors are laterally associated with Apolipoprotein E gene polymorphisms in deep vein thrombosis patients: An Indian study

Thrombophilic risk factors are laterally associated with Apolipoprotein E gene polymorphisms in deep vein thrombosis patients: An Indian study

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

Association of Apolipoprotein E gene polymorphism with the risk of T2DM and obesity among Egyptian subjects

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