Key result
ELMO1 haplotype G-G-C-C is linked to ~140% higher risk of diabetic nephropathy.
Why the study?
The role of ELMO1 gene polymorphisms in the pathophysiology of diabetic nephropathy in the North Indian population was not well established.
Do ELMO1 gene polymorphisms increase the risk of diabetic nephropathy in a North Indian population?
Case-Control (n=1,584)
Yes
Do ELMO1 gene polymorphisms increase the risk of diabetic nephropathy in a North Indian population?
Odds Ratio: 2.4 (95% CI 2–2.87)
p-value: p=1.09x10^-22
ELMO1 gene polymorphisms, specifically haplotypes G-G-C-C and G-A-T-T, are significantly associated with an increased risk of diabetic nephropathy in the North Indian population.
Should not yet change clinical risk assessment; supports ELMO1-diabetic nephropathy link in North Indians but leaves open need for prospective validation.
Diabetic nephropathy (DN) is a major cause of renal failure globally including chronic kidney disease and end-stage renal disease (ESRD). Using comprehensive linkage disequilibrium mapping, we genotyped five polymorphisms from engulfment and cell motility 1 (ELMO1) gene (rs741301, rs7799004, rs1882080, rs11769038 and rs1345365) to evaluate its association with DN. BMI was observed to be low in DN cases as compared to the control groups, which is the result of haemodialysis and high doses of medication. Physical inactivity, lipid profile, urea and creatinine were observed to be the confounding factors correlated with DN. This study comprehensively evaluated ELMO1 in DN patients, T2D without Nephropathy and healthy controls from North Indian population and revealed significant association with DN. Haplotypes G-G-C-C and G-A-T-T provided ~2-fold risk towards DN development. In conclusion, the present study suggests the significant role of ELMO1 gene polymorphisms in the pathophysiology of DN in North-Indian population.
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Singh et al. (2020) conducted a case-control in Diabetic Nephropathy (n=1,584). ELMO1 gene variants (haplotype G-G-C-C) vs. Non-carriers / Controls was evaluated on Diabetic Nephropathy development (OR 2.40, 95% CI 2.0-2.87, p=1.09x10^-22). ELMO1 gene haplotype G-G-C-C was significantly associated with a 2.40-fold increased risk of developing diabetic nephropathy in the North Indian population.
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