ABSTRACT
Reported to date, strong evidence exists in multiple studies for genetic predisposing in the development of diabetic nephropathy, and no studies addressed this issue among Egyptian population. The results of angiotensin converting enzyme gene [ACE] in the susceptibility to nephropathy in type 1 diabetes with nephropathy are conflicting. We aim to identify the associations of two ACE gene polymorphisms [PstI, A > G substitution and a 287-bp insertion/deletion] with nephropathy in type 1 diabetes in Egyptian children/adolescents. Our case-control study contained 140 diabetic individuals; 80 diabetic with nephropathy as cases, and 60 diabetic subjects without nephropathy as control group. Amplified DNA from peripheral leucocytes/buccal mucosa was genotyped for using polymerase chain reaction and enzymatic assay. We found no significant differences in the distribution of ACE insertion/deletion and PstI genotypes or allele frequencies were observed between the examined groups. Frequencies of PstI-indel haplotypes were similar in all of our study groups. In both cases and control subjects, ACE activity and microalbuminuria were highest among D/D homozygotes and lowest in I/I homozygotes, while a dissimilar result was seen in PstI polymorphism. Our findings in Egyptian population strongly conclude that there is no association between the ACE gene I/D and PstI polymorphisms with nephropathy in type 1 diabetes