Thesis (Ph.D.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry

One of the most common complications of diabetes mellitus is diabetic nephropathy (DN). The objective of the study was to investigate the relationship between variants of angiotensin converting enzyme (ACE), transcription factor 7 - like 2 (TCF7L2) and peroxisome proliferator - activated receptor gamma coactivator - 1 alpha (PPARGC1A) gene polymorphisms individually or in combination with the development of nephropathy in type 2 diabetes mellitus (T2DM) patients. In addition, to study the relationship between variants of ACE I / D gene polymorphism, serum ACE level and the development of nephropathy in T2DM patients. Eighty five T2DM patients (Forty five with nephropathy and forty without nephropathy), and forty five healthy control subjects were included in the study. The insertion/deletion (I/D) polymorphism of ACE gene was evaluated by PCR method. The polymorphisms rs7903146 (C/T) of TCF7L2 gene and Gly482Ser (G / A) and Thr394Thr (G / A) of PPARGC1A gene were evaluated by PCR - RFLP analysis. The serum ACE level was determined using ELISA. The frequency of ACE DD genotype and D allele was significantly higher in DN patients when compared to normal controls (P = 0.001 and 0.001), respectively and diabetic patients without nephropathy (P = 0.035 and 0.004), respectively

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