The C allele of the rs741301 polymorphism in the ELMO1 gene is associated with increased risk of diabetic retinopathy in patients with type 2 diabetes mellitus.

Objective: To investigate the association of the rs741301 polymorphism in the ELMO1 gene with diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM).

Materials And Methods: This study analyzed 350 patients withT2DM and DR (cases) and 234 patients withT2DM without this complication but with more than 10 years of diabetes mellitus (DM) (controls). DR was diagnosed by indirect fundoscopy. Genotyping was performed by allelic discrimination real-time PCR.

Results: The frequency of the C/C genotype of the rs741301 polymorphism in the ELMO1 gene was 26.9% in cases and 17.9% in controls (P = 0.011). After adjustment for covariables, the C/C genotype was associated with an increased risk of DR [odds ratio (OR) = 1.805, 95%CI 1.101-2.961; P = 0.019]. This association remained significant in dominant and additive inheritance models after adjustment for the same variables [OR = 1.597, 95%CI 1.089-2.343; P = 0.017; and OR = 1.818, 95%CI 1.099-3.007; P = 0.020].

Conclusion: This study demonstrated an association between the presence of the C allele of the ELMO1 rs741301 polymorphism and an increased risk of DR in patients with T2DM from Southern Brazil.