Role of engulfment and cell motility 1 (ELMO1) gene polymorphism in development of diabetic kidney disease

• Main Authors: Thoria A. Omar, Shimaa K. Zewain, Mohamed M. Ghonaim, Khadija A. Refaat, Dalia H. Abou-Elela
• Format: Article
• Language: English
• Published: SpringerOpen 2021-05-01
• Series: Egyptian Journal of Medical Human Genetics
• Subjects: Type 2 diabetes mellitus; Diabetic kidney disease; Single-nucleotide polymorphism; ELMO1; Real-time PCR
• Online Access: https://doi.org/10.1186/s43042-021-00167-8

Abstract Background Diabetic kidney disease (DKD) is a progressive kidney disease that affects diabetic patients irrespective of glycemic state or hypertension. Therefore, early detection of DKD is of critical importance. Many genome-wide association studies have identified the engulfment and cell motility 1 (ELMO1) gene as a genetic marker linked to DKD. This study aimed to investigate the association between ELMO1 rs741301 gene polymorphism and the development of DKD among Egyptian patients with type 2 diabetes mellitus (T2DM). Allele and genotype frequencies were investigated in 304 subjects by real-time PCR allelic discrimination assay: 100 DKD patients, 102 diabetic patients without DKD, and 102 healthy controls. Results GG genotype of ELMO1 (rs741301) SNP and its allele frequencies were significantly high in all diabetic patients. GG genotype had an odds ratio (OR) of 6.095 and 95% confidence interval (CI) of 2.456–15.125, p < 0.001, while the frequent allele G had an OR of 2.366 and 95% CI of 1.450–3.859, p = 0.001. No significant difference was observed between T2DM without DKD and DKD. Conclusion Our results could not establish an association between the ELMO1 rs741301 variant and the progression of DKD.