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The Role of Genetic Variants (rs869109213 and rs2070744) Of the eNOS Gene and Bgl II in the α 2 Subunit of the α 2 β 1 Integrin Gene in Diabetic Retinopathy in a Tunisian Population

2019; Taylor & Francis; Volume: 34; Issue: 5 Linguagem: Inglês

10.1080/08820538.2019.1632354

1744-5205

Fatma Midani, Zohra Ben Amor, M.A. El Afrit, Amani Kallel, Moncef Feki, Hayet Soualmia,

Receptor Mechanisms and Signaling

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.