Influence of genetic variability at the ACE locus in intron 16 on Diabetic Nephropathy in T1DM patients.
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Date
2014-10
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Abstract
Background: Diallelic [insertion/deletion (I/D)] polymorphism in the angiotensin-converting enzyme (ACE)
gene has been reported inconsistently as being associated with risk of diabetic nephropathy (DN). Objective:
To examine the three ACE poly-morphic variants in intron 16 for a possible role in modulating DN in T1DM
patients from Kutch region, Gujarat. Design and setting: I/D polymorphism in intron 16 of the ACE gene
was examined in a case-control group (280 participants with T1DM, case participants n=138; control
participants n=142) for association with nephropathy. All recruited individuals were carefully phenotyped and
genotyping was performed using polymerase chain reaction and gel electrophoresis methods. Suitable
descriptive statistics was used for different variables. Results: No departure from Hardy-Weinberg equilibrium
was observed in cases or controls. Genetic polymorphism at the ACE locus in intron 16 were significantly
associated with nephropathy when analyzed either by genotype or allele frequencies and D/D variant were
significantly (p=0.0002) associated with nephropathy at the 5% level. In multivariate analysis, D/D variant
had an independent and strongest influence on the micro-albumin excretion (p=0.002, OR=2.11, 95% CI=1.26–
4.48). However, it did not independently change the odds of having macroalbuminuria versus microalbuminuria.
Conclusion: Genotype-associated differences in ACE in intron 16, have functional consequences in genetic
susceptibility to diabetic nephropathy in a population with T1DM, and thus represent a potential DN genetic
susceptibility locus worthy of replication.
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Parchwani Deepak N, Kesari M G, Patel Digisha D, Patel Darshan J. Influence of genetic variability at the ACE locus in intron 16 on Diabetic Nephropathy in T1DM patients. Indian Journal of Physiology and Pharmacology. 2014 Oct-Dec ; 58 (4) : 327-337.