الفهرس 
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Abstract
Diabetic retinopathy is considered one of the most common microvascular complications in T2DM. It leads to blindness among adults aged 20–74 years old and is regarded as one of the main causes of blindness among T2DM patients.
About 42% of patients with diabetes in Egypt have diabetic retinopathy and 5% are legally blind. It is important to use the genetic testing approaches in addition to conventional clinical diagnostic tools to minimize the incidence and progression of retinopathy and the resulting blindness. Hens the current study aimed to investigate the association of the HIF-1α and VEGF genetic variants in Egyptian population with diabetic retinopathy.
To fulfill this aim, 216 of Egyptian suffering from T2DM were divided to three groups: 72 T2DM without retinopathy, 72 T2DM with NPDR and 72 T2DM with PDR in addition to 72 controls. All subjects were exposed to biochemical and genotyping analyses.
All diabetic patients with and without retinopathy had hyperglycemia manifested by significantly gradual elevations in both FBG level and HbA1c percentage at P<0.0001. In addition, NPDR and PDR patients exhibited hyperlipidemia, compared to the control subjects marked by significant raise (P< 0.0001) in the serum levels of TG, TC, LDL-C, and VLDL-C accompanied by a significant reduction (P< 0.0001) in the serum HDL-C level.
Compared to the control subjects, DWR patients had no significant difference in the genotype distribution of HIF-1α rs11549465 C SNP (p = 0.079), however, DWR patients showed a significantly higher T allele frequency (p =0.011).
On the other hand, NPDR patients showed a significantly higher frequency of CT and TT genotypes with a decrease in CC genotype compared to both the control subjects (p <0.0001) and DWR patients (p = 0.01). NPDR patients had a significantly higher T allele frequency (p <0.0001), compared to both control and DWR groups. Additionally, PDR patients showed a significantly higher frequency of CT and TT genotypes with a reduction in CC genotype when compared to the control subjects (p <0.0001). The genotype distribution in PDR group showed no statistical significance compared to both DWR (p = 0.134) and NPDR (p = 0.558) groups. Regarding T allele frequency in the PDR group, it was significantly higher, compared to both the control individuals (p < 0.0001) and DWR patients (p = 0.03) with insignificant T allele frequency, compared to the NPDR group (p> 0.05).
Concerning VEGF rs3025039 C>T SNP, the results showed no significant difference in the genotype distribution and allele frequency either in the control, DWR, or NPDR groups. PDR patients had no significant difference (p> 0.05) in the genotype distribution when compared to the control, DWR, and NPDR groups. However, PDR patients showed a significantly higher T allele frequency (p = 0.003), compared to the control group, without statistical differences (p> 0.05), compared to DWR and NPDR groups.
As regards serum Levels of AGEP, VCAM-1, HIF-1α, VEGF, and CTRP3 in the different studied groups. Diabetic patients without retinopathy had significant elevations in the serum levels of AGEP (1077.60%, p< 0.0001) and VCAM-1 (223.29%, p< 0.0001) in association with a significant reduction in the serum level of CTRP3 (40.09%, p< 0.0001), compared to the control subjects. While the serum levels of both HIF-1α and VEGF showed no significant differences (p> 0.05), compared to the control group. Compared to the DWR group, both NPDR and PDR patients showed significant increases (p< 0.0001) in the serum levels of AGEP, VCAM-1, HIF-1α, VEGF, and a more pronounced significant reduction in the serum level of CTRP3 (p< 0.0001). By comparing the PDR group with the NPDR group, no significant changes were recorded in the serum levels of AGEP, VCAM-1, HIF-1α, and CTRP3. In addition, a more pronounced increase in the serum level of VEGF (10.02%, p = 0.041) was recorded in the PDR group.