# 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

## TL;DR

A genetic variant in the ELMO1 gene is linked to a higher risk of diabetic retinopathy in people with type 2 diabetes in Southern Brazil.

## Contribution

The study identifies a novel association between the ELMO1 rs741301 C allele and increased DR risk in T2DM patients.

## Key findings

- The C/C genotype of rs741301 was more frequent in DR cases than controls.
- The C allele was associated with increased DR risk after adjusting for covariables.
- The association remained significant in dominant and additive inheritance models.

## Abstract

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

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.

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].

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.