POLYMORPHISM IN EXON 7 OF ENDOTHELIAL NITRIC OXIDE SYNTHASEadmin
ASSOCIATION OF G894T POLYMORPHISM IN EXON 7 OF ENDOTHELIAL NITRIC OXIDE SYNTHAESE ( eNOS GENE ) WITH DIABETIC SEPTIC FOOT PREDISPOSITION IN SUDANESE
Shaza Esmat Omer Mohamed Ali ¹ , Mohamed Mahmoud Mohammed Ahmed ², and Manal Ahmed M. A . Fadl³ .
¹ Department of Biotechnology ,Juba university .
² Fellowship of Sudan Medical Specialization board
³Assistant professor of Molecular Biology –Alneelain University
Diabetic septic foot is complication of diabetes and leads to amputation of extremities with high morbidity rate. In Sudan the prevalence of DSF is increasing and genetic role was evidenced .
The endothelial nitric oxide synthase (eNOS) encoded by the NOS3 gene is responsible for the synthesis of endothelium-derived nitric oxide (NO) with function include vasodilation ,neurotransmitter, neuroprotective ,pain perception , and vasoprotective .The polymorphism of G to T at nucleotide 894 in exon 7 of eNOS gene change eNOS structural and activity leading to endothelial dysfunction and then impaired wound healing .
This cross sectional study was carried out to examine the association of SNP (G894T) of eNOS gene with Sudanese DSF patients using blood sample from 53 diabetic patients as control and 62 DSF patients as cases with clinical and demographic data questionnaire without restriction to age, gender, race or disease.
DNA from blood sample was extracted using guanidine chloride method and its quality and quantity was measured using electrophoresis and nanaophoto-meter respectively and then DNA was amplified in PCR thermo cycler whereas genotyping and alleles percentages was detected using restriction fragment length polymorphism (RFLP) technique .
Results showed no association of G894T polymorphism of the (eNOS) gene with DSF (P= 0.105)which may be explained by gene pools ,environmental factors and neuropathy which detected in 68.8%of DSF increasing the risk of DSF predisposition 3.7 folds Moreover, the T mutant allele was frequent among both DSF(91.1%) and DM(81.1%) patients .
Also high frequency of males among DSF(83.8%) with a significant gender difference between DSF and DM patients (P= 0.00) may be attributed to smoking, sensitivity to insulin and negative effect of androgens hormone on wound healing.
The low socioeconomic status among DSF (95.7%) was significantly difference (P=0.00) which may be regarding to lack of foot care and treatment .