ANGIOTENSIN CONVERTING ENZYME (ACE) GENE INSERTION DELETION POLYMORPHISM AND ITS ASSOCIATION WITH TYPE 2 DIABETIC NEPHROPATHY
Author: K.MENAKA SHANTHI, K.RAMADEVI, PRAGNA B. DOLIA
Category: Biochemistry
Abstract:
Background : Long term type 2 diabetes is a major and important cause of nephropathy. ACE responsible for glomerular pressure change and release of glomerulosclerosis mediators. In ACE gene there exists a polymorphism within intron 16 in the form of either presence (I) or absence (D) of a 287 base-pair fragment resulting in 3 possible genotypes-II, ID, DD. This polymorphism is associated with variability in circulating levels of ACE. II genotype having lowest ACE levels, DD genotype having highest and ID genotype having intermediate levels.
Aims & Objectives: 1.To find correlation of DD polymorphism with diabetic nephropathy. 2.To assess serum ACE activity in relation to this polymorphism.
Materials & Methods: Genotype analysis done in 30 healthy controls, 30 diabetics with nephropathy and 30 diabetics without nephropathy by polymerase chain reaction. Phenotype analysis done by measuring serum ACE activity.
Results: Diabetic nephropathy patients had higher frequency of DD genotype compared to controls and diabetics without nephropathy (56.7% compared to 6.7% and 20.0% P= 0.000) and Odds ratio of 2.7 among diabetic nephropathy patients and controls. ACE activity elevated in DD genotype ( P = 0.000)
Conclusion: ACE DD genotype is a risk factor for Diabetic nephropathy and is associated with increased serum ACE activity.