Clinical and Biochemical Association between Single-Nucleotide Polymorphism of the Uromodulin Gene and Albuminuria in Patients with Type-2 Diabetes Mellitus

ABSTRACT

Objective: This study aimed to investigate the association of single nucleotide polymorphism (SNP) of UMOD gene (three SNP at promoter region; rs13333226, rs12917707, and rs4293393) with albuminuria and other renal function biomarkers in patients with type-2 diabetes mellitus. Methods: A case-control study design was employed to enroll 120 subjects, where 30 healthy subjects (as control group), 30 diabetic patients with normo-albuminuria (as first case group), 30 diabetic patients with microalbuminuria (as second case group) and 30 diabetic patients with macroalbuminuria (as third case group) were involved. Blood and urine samples were collected from the patients during their visits to diabetic clinics. Age, gender and BMI were taken for each participant. Fasting serum glucose (FSG), serum creatinine and blood urea were measured by a spectrophotometer, serum cystatin-c by ELISA technique, HbA1c was measured by the CLOVER A1c system, urinary albumin was measured by turbidimetric end-point method, (UACR) urinary albumin creatinine ratio were estimated, eGFR was also calculated. A whole blood sample was used for DNA extraction, finally, real time PCR technique was used for the determination of SNP genotype. Results: The results showed that the G minor allele of rs13333226 has a protective factor in patients with albuminuria. Also, the common variant AA of rs13333226 genotype was associated with a reduction in GFR. For the rs12917707 the common variant GG was associated with the development of albuminuria in diabetic patients and with the reduction in GFR. Finally, the frequency of (rs4293393) CC genotype was common and associated with the development of albuminuria in diabetic patients when compared with healthy controls. Conclusions: SNP in the regulatory region of the UMOD gene has a role in the protection from albuminuria in diabetes mellitus patients.