Affiliations: Eye Clinic, University Medical Centre Ljubljana,
Slovenia | Institute of Histology and Embryology, Medical Faculty
Ljubljana, University of Ljubljana, Slovenia
Note: [] Corresponding author: Associate Professor Daniel Petrovič,
MD, PhD, Institute of Histology and Embryology, Medical Faculty Ljubljana,
Korytkova 2, SI-1000 Ljubljana, Slovenia. Tel.: +386 1 5437367; Fax: +386 1
5437361; E-mail: [email protected]
Abstract: Substantial data indicate that oxidative stress is involved in the
development of diabetic retinopathy. Two candidate genes that affect the
oxidative stress are manganese mitochondrial superoxide dismutase (Mn-SOD) and
endothelial nitric oxide synthase (eNOS). The aim of the present study was to
examine the role of the V16A polymorphism of the Mn-SOD gene and the 4a/b
polymorphism of the eNOS gene in the development of diabetic retinopathy in
Caucasians with type 2 diabetes. In this cross sectional case-control study 426
unrelated Slovene subjects (Caucasians) with type 2 diabetes mellitus were
enrolled: 283 patients with diabetic retinopathy and the control group of 143
subjects with type 2 diabetes of duration of more than 10 years who had no
clinical signs of diabetic retinopathy. A significantly higher frequency of the
VV genotype of the V16A polymorphism of the Mn-SOD was found in patients with
diabetic retinopathy compared to those without diabetic retinopathy
(OR=2.1, 95% whereas the 4a/b polymorphism of the eNOS
gene failed to yield an association with diabetic retinopathy. We may conclude
that the VV genotype of the V16A polymorphism of the Mn-SOD gene was associated
with diabetic retinopathy in Caucasians with type 2 diabetes, therefore it
might be used as a genetic marker of diabetic retinopathy in Caucasians.
