Diabetic retinopathy progression associated with haplotypes of two VEGFA SNPs rs2010963 and rs699947

Alnaji, Haider Ali; Omran, Rabab; Hasan, Aizhar Hamzih; Nuwaini, Mohammed Qasim Al

doi:10.1080/2314808x.2022.2157124

Cited by 3 publications

(3 citation statements)

References 23 publications

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“…In two recent studies conducted in India and Iraq, the association between rs699947 polymorphism and type 2 diabetic retinopathy was examined, and both the studies found no significant association between the rs699947 polymorphism and DR, indicating that it may not have a significant impact on the development of DR in the studied populations. 25,26 Other studies found no association of rs699947 polymorphism with DR in Chinese and Egyptian populations. 27,28 In a meta-analysis, rs699947 showed no significant association with DR in Asians and Caucasians.…”

Section: Discussionmentioning

confidence: 99%

Association of vascular endothelial growth factor a gene (VEGFA) polymorphisms, rs699947 and rs1570360, with diabetic retinopathy and altered VEGF secretion in the Pakistani patients with type 2 diabetes mellitus: a case-control study

Shazia Qayyum,

Muhammad Afzal,

Abdul Khaliq Naveed

et al. 2023

J Pak Med Assoc

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Objective: To investigate the association of vascular endothelial growth factor A gene polymorphisms 2578C/A (rs699947) and 1154G/A (rs1570360) with type 2 diabetes mellitus, diabetic retinopathy and serum vascular endothelial growth factor levels in Pakistani patients. Method: The case-control study was conducted from Jan 2017 to Dec 2018 after approval from the ethics review board of Riphah International University, Islamabad, Pakistan, and comprised type 2 diabetes mellitus patients of either gender with diabetic retinopathy in group A, and without diabetic retinopathy in group B. Non-diabetic healthy individuals were enrolled in control group C. Genotyping was done by amplification refractory mutation system-polymerase chain reaction and serum vascular endothelial growth factor levels were measured using enzyme-linked immunosorbent assay. Data was analysed using SPSS 22. Results: Of the 450 subjects, 150(33.3%) were in each of the 3 groups. The mean age in group A was 58.16±9.42, in group B 56.25±8.5 years and in group C it was 55.90±10.90. The proportion of Punjabi ethnicity was significantly high in group B compared to other groups (p<0.05). There was no significant association of rs699947 and rs1570360 genotypic and allelic frequencies in group B compared to group A. Further, rs699947 AA genotype was significantly associated with proliferative diabetic retinopathy compared to group A (p<0.05). Minor allele A showed significant association in groups A and B compared to group C (p<0.05). Significantly raised serum vascular endothelial growth factor levels were found in group B compared to group A (p<0.05), and were associated with rs699947 and rs1570360 heterozygosity in group A (p<0.05). Also, rs699947 genotype showed significant association with groups A and B in Punjabi and Pathan ethnicities (p<0.05) and with Kashmiri ethnicity in group B (p<0.05). Conclusion: There was a strong association of vascular endothelial growth factor 2578C/A (rs699947) gene polymorphism with proliferative diabetic retinopathy in type 2 diabetic Pakistani patients, suggesting its role in the pathogenesis of this condition. Key Words: Diabetic retinopathy, Polymorphisms, Type 2 diabetes mellitus, Vascular endothelial growth factor A gene.

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Section: Discussionmentioning

confidence: 99%

Association of vascular endothelial growth factor a gene (VEGFA) polymorphisms, rs699947 and rs1570360, with diabetic retinopathy and altered VEGF secretion in the Pakistani patients with type 2 diabetes mellitus: a case-control study

Shazia Qayyum,

Muhammad Afzal,

Abdul Khaliq Naveed

et al. 2023

J Pak Med Assoc

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“…The main progressors of DR are inflammation, angiogenesis, and apoptosis, leading to retinal cell death and eyesight loss [ 49 , 50 ]. VEGFA serves as the primary regulator in both normal and abnormal vascular development [ 51 ]. It has the potential to enhance retinal vascular permeability, destroy the blood-retinal barrier, and generate new blood vessels in DR, all of which are directly linked to the emergence and progression of DR [ 52 ].…”

Section: Discussionmentioning

confidence: 99%

“…VEGFA rs699947 polymorphism was significantly associated with DR in Korean [ 60 ], Japanese [ 61 ], Chinese [ 59 ], and Australian [ 63 ] populations, whereas no association with DR was observed in Iraq [ 51 ] and Egyptian [ 57 , 58 ] populations. A study from central India reported no association of rs699947 DR cases vs T2D cases [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

Association of Vascular Endothelial Growth Factor (VEGF) and Mouse Model Minute 2 (MDM2) Polymorphisms With Diabetic Retinopathy in a Northwest Indian Population: A Case-Control Study

Buttar,

Guleria,

Sharma

et al. 2024

Cureus

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Introduction: Diabetic retinopathy (DR), a microvascular complication of type 2 diabetes (T2D), results from complex interactions of genetic and environmental factors. Vascular endothelial growth factor (VEGF) and mouse model minute 2 (MDM2)are upregulated in the retina due to diabetes, which increases the risk of DR. VEGFA and MDM2 genetic variations can influence DR risk. The present case-control study was conducted to evaluate the association of VEGFA and MDM2 promoter variants with DR in a population from Punjab, Northwest India. Methods: A total of 414 DR patients, 425 T2D patients without DR, and 402 healthy controls were screened for VEGFA -2578C/A (rs699947), VEGFA -2549I/D (rs35569394), VEGFA -7C/T (rs25648), and MDM2 rs3730485 polymorphisms using polymerase chain reaction (PCR)-based methods. Results: VEGFA -2549 I allele (OR = 1.35 (1.00-1.81), p = 0.043) and II genotype (OR = 1.78 (1.00-3.15), p = 0.047) were significantly associated with increased risk of DR. VEGFA -7 CT genotype conferred reduced risk of DR (OR = 0.28 (0.20-0.38); p = <0.001). VEGFA -2578 and MDM2 rs3730485 showed no significant association with DR. A-I-T (OR = 0.30 (0.20-0.44); p = <0.001) and C-D-T (OR = 0.33 (0.16-0.65); p = 0.002) haplotypes of rs699947-rs35569394-rs25648 polymorphisms showed decreased risk of DR. Conclusions: I allele and II genotype of VEGFA -2549, CT genotype of VEGFA -7, and C-I-C and A-D-C haplotypes of rs699947-rs35569394-rs25648 polymorphisms were significantly associated with DR risk in a Northwest Indian population. This is the first study worldwide to report DR risk with VEGFA promoter variants together.

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Investigate the role of PIK3CA gene expression in colorectal polyp development

Imarah,

Najm,

Alnaji

et al. 2023

Egyptian Journal of Basic and Applied Sciences

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Diabetic retinopathy progression associated with haplotypes of two VEGFA SNPs rs2010963 and rs699947

Cited by 3 publications

References 23 publications

Association of vascular endothelial growth factor a gene (VEGFA) polymorphisms, rs699947 and rs1570360, with diabetic retinopathy and altered VEGF secretion in the Pakistani patients with type 2 diabetes mellitus: a case-control study

Association of vascular endothelial growth factor a gene (VEGFA) polymorphisms, rs699947 and rs1570360, with diabetic retinopathy and altered VEGF secretion in the Pakistani patients with type 2 diabetes mellitus: a case-control study

Association of Vascular Endothelial Growth Factor (VEGF) and Mouse Model Minute 2 (MDM2) Polymorphisms With Diabetic Retinopathy in a Northwest Indian Population: A Case-Control Study

Investigate the role of PIK3CA gene expression in colorectal polyp development

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