Abstract:
Type 2 Diabetes mellitus is a disease classified by low production of the hormone
insulin and gradual loss of β-cells in the pancreas and chronic resistance to insulin in
the body. The gene Vascular Endothelial Factor – A (VEGF-A) is up-regulated as a
result of uncontrolled blood glucose levels. VEGF-A has been widely linked with the
proliferation of Diabetic Retinopathy (DR) in the patients of DM. The study focuses
on identifying the association and risk analysis of two of the most linked
polymorphisms of VEGF-A rs2146323 and rs699947 with DM and its co-morbidity
DR in a cohort of 106 patients with Type2 Diabetes mellitus in Pakistan. Allele
specific PCR was employed to observe the association between polymorphisms and
the possible disease pathogenesis. The study showed remarkable association between
the polymorphism rs2146323 and T2DM. The heterozygous genotype CA showed
susceptibility of developing DR in T2DM vs. control with OR= 3.99, 95% CI= (2.1-
7.4) and P= <0.0001***. The chi square (x2
) value (46.1) and P= (<0.0001***)
suggests a significant association between rs2146323 with T2DM and a risk of
developing DR. A relative association between the CA genotype of rs699947 of
VEGF-A, and T2DM vs. control was found with OR= 1.9, 95% CI= 1.05-3.52 and P=
0.03. The chi square (x2
) value (10.10) and P= (0.0064**) shows some association of
T2DM co-morbidities with T2DM. The allelic difference in the distribution of alleles
for both polymorphisms of VEGF-A studied show no significant difference in their
distribution of alleles in T2DM and Controls. Further research with ample sample size
is required to validate the findings of this research on a larger set of patient
population.
