Intron 16 of the Angiotensin Converting Enzyme (ACE) gene has an insertion/deletion (I/D) polymorphism of 287 bp Alu repeat sequence, resulting in three genotypes: I/D, D/D, and I/I. The expression of the ACE gene is linked to ACE levels in cells and plasma. It was discovered that the polymorphism could affect the ACE gene's expression. The D/D genotype is thought to have a negative impact on a variety of pathologies, and it may also be a cause-effect for type 2 diabetic nephropathy (T2DN). By comparing the genotype data of T2DN patients to healthy controls, Type 2 diabetes mellitus (T2DM), and nephropathy patients in this study, we were able to determine the frequency of different ACE gene genotypes and see if there is a link between ACE gene polymorphism and T2DN.
The Insertion Deletion (ID) polymorphism in intron 1 of the ACE gene is a functional polymorphism that has been shown to affect ACE levels in healthy people. The ACE ID polymorphism is linked to an increased risk of thrombosis and is maybe causally linked to Coronary Heart Disease (CHD).