Vascular endothelial growth factor +405G/C polymorphism as a predictor of diabetic retinopathy

Amer, Azza K.; Khalaf, Nervana; Aboelmakarem, Safia H.; Elsobky, Mehry S.; Abdelrasoul, Mona R.; Abdelazeem, Amira A.; Noweir, Shahira; Refaat, Safa; Moemen, Leqaa A.; Mohammed, Soheir; Abdelhameed, Mona A.; Kenawy, M M; Abuelela, Manal H.; Fouly, Marwa A.; Hassanin, Olfat A.; Karawya, Sherif; Osman, Zeinab M.

doi:10.1186/s42269-020-00287-y

Cited by 4 publications

(1 citation statement)

References 34 publications

(31 reference statements)

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“…This study could only find an association of rs13207351 with NPDR and rs5742632 with PDR [107]. Similarly, studies performed in the Caucasian Slovenian and Mexican PDR subjects did not observe an association between AA genotype of rs6921438 or rs10738760 [108,109] and rs3025021, rs3025035, rs2010963, respectively [110]; however, recent studies have also shown that rs2010963 is associated with the development and severity of DR in Egyptian [111] and Sudanese [112] patients.…”

Section: Vegf Genementioning

confidence: 58%

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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Section: Vegf Genementioning

confidence: 58%

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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A study of the genotyping and vascular endothelial growth factor polymorphism differences in diabetic and diabetic retinopathy patients

Wagih

Hussein

Rizk

et al. 2022

Egypt J Med Hum Genet

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Background Retinopathy is one of the major causes of visual impairment which is the most severe microvascular complication of diabetes mellitus (DM). The aim of this study was to evaluate the association between diabetic retinopathy (DR) and two SNPs (− 152G > A and − 165C > T) located in the promoter region of the vascular endothelial growth factor (VEGF) gene in a small sample from Egyptian population. One hundred diabetic patients without retinopathy (DWR) and two hundred diabetic patients with retinopathy were included in this study. Genotype analysis for the two SNPs (− 152G > A and − 165C > T) was assessed by using the PCR–RFLP technique. In addition, the serum protein level of VEGF was measured by ELISA assay. Results The results showed a significant relationship between − 152G > A (rs13207351) polymorphism and both proliferative and non-proliferative retinopathy in genotypes (GG, GA, AA). The risk factor increment in the mutant heterozygous genotype (GA) was significantly increased in NPDR compared to PDR (OR = 16.3, 95%CI = 0.80–331.7); (OR = 20.4, 95%CI = 1.08–385.3), respectively. There was no significance between VEGF − 165C > T (rs79469752) gene polymorphism and retinopathy. Moreover, the serum protein level of VEGF showed a highly significant increase (P = 0.0001) in PDR (Mean ± SD = 3691 ± 124.9) when compared to both DWR (Mean ± SD = 497.3 ± 18.51) and NPDR (Mean ± SD = 1674.5 ± 771.7). These results were supported by the increased level of VEGF in serum protein which is positively correlated with the severity of retinopathy. Measuring VEGF protein level in DR patients would help as a biomarker in early diagnosis. Conclusion The increase in the mutant heterogeneous GA genotype in VEGF − 152G > A SNP could be a risk factor for the progression of severe retinopathy in diabetic patients.

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VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy

Shevchenko

Прокофьев

Коненков

et al. 2021

Acta biomedica scientifica

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The endothelial NO synthase (eNOS) and vascular endothelial growth factor (VEGF) imbalance and the polymorphism of these genes may be the predisposition for diabetic retinopathy (DR) development and progression.The aim: to analyze VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes polymorphism and their combinations in patients with type 2 diabetes mellitus (DM2) with and without initial non-proliferative DR.Materials and methods. The study included 200 patients with type 2 diabetes (155 women and 45 men, age – 43–70 years): 111 people without and 89 people with DR. The polymorphism of the regulatory regions of VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes was studied using restriction fragment length polymorphism analysis and TaqMan Real-Time PCR by. Statistical processing was carried out using the software packages Statistica 10.0, SPSS Statistics 23 and the package of original programs for volumetric processing of bioinformation.Results. The VEGF-2578 heterozygosity and two complex genotypes – VEGF-2578CA:VEGF+936CC and NOS3-786CT:VEGF-2578CA:VEGF+936CC – signifi cantly decreased in patients with DR. The predisposition to early DR development to minor genotype of eNOS gene in the NOS3-786CC:VEGF+936CT complex and signifi cantly decreased the homozygous wild-type eNOS genotype in DM2 patients with ophthalmopathology were shown. NOS3-86TT:VEGF2578AA genotype signifi cantly decreased in group with retinopathy developing and the glycated hemoglobin high level.Conclusion. Along with the clinical risk factors for the development of DR in DM2, the genetic polymorphism of the regulatory regions of the genes analyzed by us has a signifi cant weight. When analyzing potential genetic markers, it is important to consider possible joint epistatic/hypostatic effects. The complex analysis of polymorphic gene can help early prognosis of the DR development.

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Vascular endothelial growth factor +405G/C polymorphism as a predictor of diabetic retinopathy

Cited by 4 publications

References 34 publications

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

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

A study of the genotyping and vascular endothelial growth factor polymorphism differences in diabetic and diabetic retinopathy patients

VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy

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