1. 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 casecontrol study.
- Author
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Qayyum S, Afzal M, Naveed AK, Butt IA, Sajjad M, and Azam M
- Subjects
- Humans, Middle Aged, Vascular Endothelial Growth Factor A genetics, Pakistan, Case-Control Studies, Polymorphism, Single Nucleotide, Genotype, Genetic Predisposition to Disease, Diabetic Retinopathy genetics, Diabetes Mellitus, Type 2 complications, Diabetes Mellitus, Type 2 genetics
- Abstract
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., Methods: 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)., Conclusions: 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.
- Published
- 2023
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