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

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

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 o...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) Vol. 16; no. 6; p. e62996
Main Authors: Buttar, Manroop Singh, Guleria, Kamlesh, Sharma, Swarkar, Bhanwer, Ajs, Sambyal, Vasudha
Format: Journal Article
Language:English
Published: United States Cureus Inc 23-06-2024
Cureus
Subjects:
Angiogenesis
Apoptosis
Cell growth
Diabetes
Diabetic retinopathy
Endocrinology/Diabetes/Metabolism
Genetic testing
Genetics
Genotype & phenotype
Hyperglycemia
Hypoxia
Metabolism
Mortality
Ophthalmology
Permeability
Polymorphism
Retina
Statistical analysis
Vascular endothelial growth factor
India
capn10
mcp-1
human genetics
genetics
polymorphism
diabetic retinopathy
genetic opthalmology
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Summary: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. A total of 414 DR patients, 425 T2D patients without DR, and 402 healthy controls were screened for -2578C/A (rs699947), -2549I/D (rs35569394), -7C/T (rs25648), and rs3730485 polymorphisms using polymerase chain reaction (PCR)-based methods. -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. -7 CT genotype conferred reduced risk of DR (OR = 0.28 (0.20-0.38); p = <0.001). -2578 and 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. I allele and II genotype of -2549, CT genotype of -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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ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.62996