Investigating the Association of Rs2346061 (Cndp1), Rs7577 (Cndp2), and Rs1801133 (Mthfr) Variants and Homocysteine Level With Diabetic Nephropathy in an Iranian Population Publisher



Asgarbeik S¹ ; Razi F¹ ; Nasliesfahani E¹ ; Enayati S² ; Angaji S³ ; Mashkani MA⁴ ; Forouzanfar K¹ ; Amoli MM⁵
Source: Gene Reports Published:2019

Abstract

Background: The correlation between rs1801133 variant of the MTHFR gene and elevated homocysteine levels has been reported in diabetic nephropathy. High levels of homocysteine contribute to the progression and exacerbation of diabetes complications. Carnosine is a peptide that by antioxidant role can harness the toxic effect of homocysteine. In addition, the CNDP1 Carnosine dipeptidase 1 (CNDP1) and CNDP2 Carnosine dipeptidase 2 (CNDP2) genes are involved in the degradation of carnosine. The purpose of this study was to investigate the correlation between the rs2346061 (CNDP1), rs7577 (CNDP2), and rs1801133 (MTHFR) variants and diabetic nephropathy. Methods and materials: In this study 310 individuals in three groups including Diabetic Nephropathy (DN) (n = 104), Type-2 Diabetes Mellitus without nephropathy (DM) (n = 100), and Healthy Control (HC) (n = 106) were recruited. The allele and genotype frequencies of rs2346061, rs7577 and rs1801133 were determined using PCR-RFLP technique. Results: Mean serum homocysteine level was higher in patients with DN than individuals with DM. Plasma homocysteine level was positively associated with allele T of rs1801133 (p < 0.05). Allele T of the rs1801133 variant was significantly increased in the DM group. The distribution of genotype and allele frequencies of rs2346061 and rs7577 variants was not significantly different in the studied groups (p > 0.05). There was no relationship between rs2346061 and rs7577 polymorphisms and homocysteine level. Conclusions: These results confirmed the effect of the rs1801133 polymorphism on plasma homocysteine level in the HC group. No association was observed between rs2346061 and rs7577 and diabetic nephropathy in our patients (p > 0.05). © 2019