Association of the Extracellular Superoxide Dismutase Ala40Thr Polymorphism with Type 2 Diabetes Mellitus and its Complications in Lebanese Population
Abstract
Free radical-induced damage plays a significant role in the development of type 2 diabetes
and its complications. Extracellular superoxide dismutase (EC-SOD) or SOD3 is one of the
important scavenger enzymes that protects against oxidative damage and the formation
of free radicals. EC-SOD is a copper- and zinc-containing secretory enzyme located in
tissues and primarily in the extracellular matrix. EC-SOD has been proposed to protect
against pancreatic beta-cell damage, insulin resistance and vascular function in diabetic
patients. The association between EC-SOD gene polymorphism and Type 2 diabetes
mellitus is not completely understood. The aim of the study is to investigate the EC-SOD
gene polymorphism in the exon 3 region and the susceptibility to type 2 diabetes mellitus
and its complications among Lebanese patients. For this purpose, a genotype analysis
involving 60 Type 2 Diabetes patients and 46 control subjects was carried out using
PCR-based direct DNA sequencing. Results showed that the frequency of the Ala40Thr
polymorphism of EC-SOD gene was significantly higher in type 2 diabetic patients
compared to control group. Evaluation of clinical parameters of diabetic patients with their
relative genotypes showed that patients with the Thr allele have higher HbA1c levels and
fasting blood glucose compared to their Ala genotypes indicating a poor diabetes control
in these patients. When diabetic complications including retinopathy, nephropathy and
cardiovascular complications were correlated with Ala40Val polymorphism, a significant
association was detected for complications and particularly for cardiovascular diseases
in diabetic patients.
Author(s)
Saad N., Moustafa M., Chamieh H.
Journal/Conference Information
International Journal of Genetics and Molecular Biology ,8(1): 1-6