The Role of Genetic Variants (rs869109213 and rs2070744) Of theeNOSGene andBglII in the α2Subunit of the α2β1Integrin Gene in Diabetic Retinopathy in a Tunisian Population

Midani, Fatma; Amor, Zohra Ben; Afrit, M.A. El; Kallel, Amani; Feki, Moncef; Soualmia, Hayet

doi:10.1080/08820538.2019.1632354

Cited by 12 publications

(11 citation statements)

References 38 publications

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“…29 As well, a previous meta-analysis rejected the involvement of this polymorphism in DR onset, suggesting a protective impact of T786C against DR 20 In contrast to us, Midani et al demonstrated that rs2070744 CC genotype was associated with the development of DR in Tunisian patients. 21 It is worthy to note that Taverna et al reported a positive association of this polymorphism with severe DR in Caucasian patients, underlying that worse glycaemic control, as it is expressed by elevated HbA1c levels, possibly enhanced this interaction. 28 However, it should be highlighted that in the aforementioned study the control-comparison group comprised not only NonDR but also T2DM patients with mild DR, a fact that could have affected the proclaimed association.…”

Section: Discussionmentioning

confidence: 95%

“…46 Last but not least, it should be noted that the conflicting results may be due to differences in DR identification criteria and/or in the sample size of the studied populations. 21…”

Section: Discussionmentioning

confidence: 99%

“…7–9,15 Nitric oxide (NO) is a pleiotropic molecule and a major regulator of vascular tone and angiogenesis, 16 while its aberrant bioavailability or activity in the vasculature is a common feature of endothelial dysfunction. 17–19 In ocular circulation abnormal availability of NO results in impaired ocular hemodynamics, which are presented with decreased vasodilation and increased vascular resistance, 20 inducing also the retinal neovascularization; 21 thus a role for NO in DR pathogenesis is identified. 22…”

Section: Introductionmentioning

confidence: 99%

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The association of T786C and G894T polymorphisms of eNOS gene with diabetic retinopathy in Greece

Gouliopoulos

Siasos

Oikonomou

et al. 2021

European Journal of Ophthalmology

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Purpose To investigate whether eNOS T786C (rs2070744) and G894T (rs1799983) gene polymorphisms are associated with diabetic retinopathy in Greek diabetic patients. Materials 271 patients with type-2 diabetes mellitus participated in our study; 130 suffered from diabetic retinopathy and 141 not. All the patients underwent a complete ophthalmological examination, while clinical and demographic data were assessed. Furthermore, they were genotyped for rs2070744 and rs1799983 single nucleotide polymorphisms of eNOS gene. Results Regarding the clinical and demographic data, no significant differences were detected between the studied groups, except for hemoglobin A1c levels and the frequency of insulin treatment (higher in patients with diabetic retinopathy). The frequency of rs1799983 GT genotype was significantly elevated in patients with diabetic retinopathy (55% vs. 40%, P = 0.011) and was associated with a 2-fold increased risk of developing retinopathy (OR 1.92, 95% CI 1.16–3.17). Furthermore, we demonstrated that the aforementioned genotype was significantly and independently associated with increased odds for retinopathy onset in diabetic subjects (OR 2.23, 95% CI 1.28–3.90, P = 0.005), regardless of the impact of other confounders. Conclusions We documented that rs1799983 GT genotype could be recognized as an independent risk factor of retinopathy in Greek patients with type-2 diabetes mellitus, while no role for rs2070744 polymorphism was identified. Further research in different ethnic groups will clarify the exact association of these polymorphisms with the risk for diabetic retinopathy development.

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Section: Discussionmentioning

confidence: 95%

“…46 Last but not least, it should be noted that the conflicting results may be due to differences in DR identification criteria and/or in the sample size of the studied populations. 21…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The association of T786C and G894T polymorphisms of eNOS gene with diabetic retinopathy in Greece

Gouliopoulos

Siasos

Oikonomou

et al. 2021

European Journal of Ophthalmology

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“…60 Other studies have shown that polymorphisms in eNOS G894T increase the likelihood of DR by increasing the pressure on the retina. 61 Decreased AMPK-eNOS bioavailability triggers the development of diabetic peripheral neuropathy (DPN) by increasing the rate of apoptosis and decreasing the rate of autophagy due to oxidative stress. 62 In addition, in another study, patients with the genotype 'aa' in eNOS type 27VNTR (a/b) had a high risk of developing DPN.…”

Section: Enos Targets On Microvascular Complications Of Diabetes Mellitusmentioning

confidence: 99%

Endothelial Nitric Oxide Synthase (eNOS) as a Therapeutic Target in Type 2 Diabetes Mellitus and Its Vascular Complications: A Narrative Review

2022

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Diabetes mellitus type 2 (T2DM) has been a global health problem. Current studies have shown that the increased mortality and morbidity in T2DM are related to vascular complications. The vascular complications were caused by increased reactive oxygen species (ROS) associated with chronic hyperglycemia and insulin resistance. The increase of ROS in T2DM was influenced by the p38 MAPK pathway which is directly related to the modulation of nitric oxide (NO) produced by endothelial nitric oxide synthase (eNOS) of endothelium cells. The decrease of NO by eNOS also has a connection with an event known as eNOS uncoupling. The decrease of eNOS plays a role in the pathogenesis of T2DM and its vascular complications such as increased inflammatory pro-cytokine, activation of NADPH pathway, increased of AGEs, VCAM-1, ICAM-1, and also the activation of protein kinase c and Rho-kinase pathway. Some interventions indirectly or directly have modulated NO relayed to its work targets such as oral antidiabetic drugs (metformin, sulfonylurea, and acarbose) or some polyphenol compounds such as emodin, α-Lipoic acid, curcumin, and olive oil. Modulation of NO in these interventions can be strong evidence that NO can be a target for further therapy in the management of T2DM and its complications. Keywords: eNOS, vascular complication, Type 2 Diabetes mellitus.

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“…The eNOS gene is located in chromosome 7q36.1. The polymorphisms of eNOS rs869109213 (4b/a) and rs2070744 (-786T/C) have been found to be associated with DR in Tunisian [34] and Algerian [127] populations. A multi-ethnic meta-analysis by Zhao et al (2012) also demonstrated a protective effect associated with the C allele of the rs2070744 SNP.…”

Section: Enos Genementioning

confidence: 99%

Genetics of Diabetic Retinopathy, a Leading Cause of Irreversible Blindness in the Industrialized World

Bhatwadekar

Shughoury

Belamkar

et al. 2021

Genes

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Diabetic retinopathy (DR) is a chronic complication of diabetes and a leading cause of blindness in the industrialized world. Traditional risk factors, such as glycemic control and duration of diabetes, are unable to explain why some individuals remain protected while others progress to a more severe form of the disease. Differences are also observed in DR heritability as well as the response to anti-vascular endothelial growth factor (VEGF) treatment. This review discusses various aspects of genetics in DR to shed light on DR pathogenesis and treatment. First, we discuss the global burden of DR followed by a discussion on disease pathogenesis as well as the role genetics plays in the prevalence and progression of DR. Subsequently, we provide a review of studies related to DR’s genetic contribution, such as candidate gene studies, linkage studies, and genome-wide association studies (GWAS) as well as other clinical and meta-analysis studies that have identified putative candidate genes. With the advent of newer cutting-edge technologies, identifying the genetic components in DR has played an important role in understanding DR incidence, progression, and response to treatment, thereby developing newer therapeutic targets and therapies.

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The Role of Genetic Variants (rs869109213 and rs2070744) Of theeNOSGene andBglII in the α₂Subunit of the α₂β₁Integrin Gene in Diabetic Retinopathy in a Tunisian Population

Cited by 12 publications

References 38 publications

The association of T786C and G894T polymorphisms of eNOS gene with diabetic retinopathy in Greece

The association of T786C and G894T polymorphisms of eNOS gene with diabetic retinopathy in Greece

Endothelial Nitric Oxide Synthase (eNOS) as a Therapeutic Target in Type 2 Diabetes Mellitus and Its Vascular Complications: A Narrative Review

Genetics of Diabetic Retinopathy, a Leading Cause of Irreversible Blindness in the Industrialized World

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