The Role of Genetic Variants (rs869109213 and rs2070744) Of the eNOS Gene and BglII in the α₂ Subunit of the α₂β₁ Integrin Gene in Diabetic Retinopathy in a Tunisian Population

ABSTRACT

Purpose: In this study, we investigated the association of two polymorphisms (rs869109213 and rs2070744) in the eNOS gene and one polymorphism BglII in the α₂β₁ integrin gene (ITGA2) with the risk of diabetic retinopathy (DR) in a Tunisian population.

Methods: The study investigated of 110 type 2 diabetes mellitus (T2DM) and 127 DR patients. The genotypes of the eNOS 4b/4a (rs869109213) and −786T/C (rs2070744) polymorphisms and of the BglII polymorphism of ITGA2 were studied using the PCR or PCR-RFLP method.

Results: The genotype distributions of the two polymorphisms in eNOS 4b4a and eNOS (−786T/C) were significantly different between T2DM and DR patients (p < .004 and p = .033, respectively). These polymorphisms were associated with the risk of DR (OR = 2.65, 95%CI [1.45–4.84], p = .002) for the eNOS 4b4a genotype and (OR = 2.43, 95%CI [1.06 − 5.56], p = .036) for the CC genotype of the eNOS gene (−786T/C). Similarly, the genotype distribution of the BglII polymorphism was significantly different between the two groups studied (p = .037). This polymorphism was associated with an increased risk of DR (OR = 4.03, 95% CI [1.17 − 7.85], p = .022) for BglII(+/+).

Conclusion: The present study suggests that the polymorphisms 4b4a and −786T/C in the eNOS gene might be associated with DR. In addition, the BglII polymorphism in the ITGA2 gene was a risk factor for DR.

Keywords:

• eNOS polymorphisms
• BglII polymorphism
• α₂β₁ integrin
• ITGA2
• diabetic retinopathy

Acknowledgments

This work was supported by a grant from Tunisia’s Ministry of Higher Education, Scientific Research and Technology.

Declaration of Interest

The authors declare no conflict of interest for this article