Question 1

What is the Meaning of ACE I/D Polymorphism?

Accepted Answer

The ACE I/D polymorphism describes a genetic variation within the Angiotensin-Converting Enzyme gene. It involves the presence (insertion, I allele) or absence (deletion, D allele) of a 287 base pair sequence in intron 16. An individual's allelic combination directly influences ACE enzyme activity.

Question 2

What is the Context of ACE I/D Polymorphism?

Accepted Answer

This genetic variant functions within the Renin-Angiotensin-Aldosterone System (RAAS), regulating blood pressure, fluid balance, and electrolyte homeostasis. Angiotensin-Converting Enzyme is a pivotal RAAS component, converting Angiotensin I into the potent vasoconstrictor Angiotensin II. The RAAS also influences aldosterone secretion, impacting renal sodium and water reabsorption.

Question 3

What is the Significance of ACE I/D Polymorphism?

Accepted Answer

Clinically, the ACE I/D polymorphism is important due to its association with varying ACE enzyme activity, influencing health predispositions. Higher ACE activity, linked to the D allele, correlates with elevated risk for hypertension, cardiovascular diseases, and diabetic nephropathy. Conversely, the I allele, with lower ACE activity, offers protective effects. It provides insights into physiological predispositions.

Question 4

What is the Mechanism of ACE I/D Polymorphism?

Accepted Answer

The 287 base pair insertion/deletion in the ACE gene directly impacts gene transcription and protein synthesis, leading to differential active ACE concentrations. DD genotypes exhibit highest circulating and tissue ACE activity; II genotypes show lowest; ID individuals demonstrate intermediate levels. This altered enzyme activity modulates Angiotensin II production and bradykinin degradation, influencing vascular tone and cardiac remodeling.

Question 5

What is the Application of ACE I/D Polymorphism?

Accepted Answer

Genetic testing for the ACE I/D polymorphism offers supplementary information regarding cardiovascular risk or response to ACE inhibitors. While not a definitive diagnostic tool, this information contributes to personalized RAAS condition management, particularly in hypertension, cardiovascular risk stratification, and exercise physiology.

Question 6

What is the Metric of ACE I/D Polymorphism?

Accepted Answer

Determining an individual's ACE I/D genotype involves molecular genetic testing, using a DNA sample from blood, saliva, or buccal swabs. Polymerase Chain Reaction (PCR) amplifies the specific ACE gene region. Subsequent analysis, involving gel electrophoresis, distinguishes I (insertion) and D (deletion) alleles, reported as genotype: II, ID, or DD.

Question 7

What is the Risk of ACE I/D Polymorphism?

Accepted Answer

Sole reliance on ACE I/D polymorphism test results without comprehensive clinical context, including lifestyle and other diagnostic parameters, presents a risk of misinterpretation. This could lead to inappropriate medical interventions or unnecessary anxiety. The polymorphism signifies a genetic predisposition, not a definitive diagnosis or absolute disease predictor. Isolated use without medical guidance is not advised.

ACE I/D Polymorphism

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

Can Genetic Predispositions Influence Individual Responses to Dietary Fluid Management Strategies?