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Association of VEGF gene polymorphism rs699947 and rs10434 with diabetic retinopathy in Egyptian patients

Session Details

Session Title: Vascular Diseases and Diabetic Retinopathy III

Session Date/Time: Friday 12/09/2014 | 16:30-18:00

Paper Time: 16:38

Venue: Boulevard D

First Author: : R.Eltanamly EGYPT

Co Author(s): :    R. Abdelfattah   M. Nabih   M. Kamal        

Abstract Details

Purpose:

The severity and progression of diabetic retinopathy (DR) are influenced by genetic and environmental factors. Vascular endothelial growth factor (VEGF) has been implicated as a major contributor to the development of DR. This worked aimed at investigating whether single nucleotide polymorphisms (SNPs) of A allele of rs699947 and G allele of rs10434 in the vascular endothelial growth factor (VEGF) gene are associated with DR in a cohort of Egyptian patients with type 2 diabetes mellitus

Setting:

This is a case control study that was carried out from March 2012 to March 2013 in Kasr Alainy Medical School, Cairo University

Methods:

128 patients were enrolled in this study; they were divided into 3 groups. • Group A: included 46 patients with type 2 diabetes mellitus and diabetic retinopathy (whether proliferative or non proliferative). • Group B: included 41 patients diagnosed as type 2 diabetes mellitus without diabetic retinopathy. • Group C: included 41 healthy controls. Patients underwent a complete ophthalmological examination including best corrected visual acuity, slit lamp biomicroscopic examination and fundus examination by + 78 lens and indirect ophthalmoscopy. The diagnosis of DR was documented by fundus photography or fundus fluorescein angiography. participants were genotyped for the A allele of rs699947 and the G allele of rs10434 polymorphisms. Blood samples were collected from all participants and stored at −80 °C before DNA extraction. Genomic DNA was isolated from venous blood leukocytes using a genomic DNA extraction and purification kit. Amplification & detection of the polymorphisms were done by the Real Time polymerase chain reaction (PCR) technique. A Allele of rs699947 was detected at melting point 62.61ºC (±2.5), while C allele was detected at 55.78ºC (±2.5). For rs10434, G allele was detected at melting point 62.79ºC (±2.5) and A allele was detected at 68.19ºC (±2.5). In heterozygous, two peaks were detected

Results:

There was no statistically significant association between rs699947 and any of the 3groups in our sample (P value = 0.462). Allelic frequency in the 3 groups was also statistically insignificant (P value= 0.616) Odds Ratio (OR) of AA/CC alleles of rs699947 in each group was compared against the two other groups. The ORs revealed that all genotypes of rs699947 SNP are not risk factor for DR in our study. There was no statistically significant association between rs10434 and any of the 3groups in our sample (P value = 0.686). Allelic frequency in the 3 groups was also statistically insignificant P value = 0.572. Odds Ratio of GG/AA alleles of rs10434 in each group was compared against the two other groups. The ORs revealed that genotypes of rs10434 SNP are not risk factor of DR

Conclusions:

The human VEGF gene is highly polymorphic. Several SNPs have been thought to be associated with differential expression of VEGF. There was no statistically significant association between rs699947 or rs10434 and the presence of DR in any of our patients. Caution should be exercised in extrapolating an association found in one population to others. The presence or absence of an observed association in any ethnic, racial, or geographic population may be related to several other factors, including gene-gene and gene-environmental interactions

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