What is the Origin of ACE Gene Polymorphism?

The term combines 'ACE Gene,' referring to the gene encoding the Angiotensin-Converting Enzyme, with 'Polymorphism,' a biological term from genetics meaning multiple forms or variations within a species' gene pool. The ACE gene is located on human chromosome 17, and its functional relevance was established through the discovery of its role in regulating blood pressure and fluid balance. The specific I/D variation was first identified and linked to differences in plasma ACE levels in the early 1990s.

What is the Mechanism of ACE Gene Polymorphism?

The ACE enzyme is central to the RAAS, cleaving the decapeptide Angiotensin I into the octapeptide Angiotensin II. The D allele is associated with lower transcription rates and increased plasma and tissue ACE levels, intensifying the RAAS cascade compared to the I allele. This enhanced enzymatic activity can lead to elevated Angiotensin II concentrations, promoting vasoconstriction, aldosterone release, and sympathetic nervous system activation. Clinically, this genetic mechanism modulates fluid homeostasis, blood pressure regulation, and cardiac remodeling capacity.

ACE Gene Polymorphism

Meaning

A common genetic variation in the Angiotensin-Converting Enzyme (ACE) gene is characterized by the presence (Insertion, I allele) or absence (Deletion, D allele) of a 287 base pair sequence in intron 16. This polymorphism is one of the most studied single nucleotide polymorphisms (SNPs) due to its profound impact on the efficiency of the Renin-Angiotensin-Aldosterone System (RAAS). Individuals with the DD genotype typically exhibit higher circulating ACE activity and thus greater conversion of Angiotensin I to the potent vasoconstrictor Angiotensin II. Understanding this genetic difference helps personalize cardiovascular and metabolic health strategies for better clinical outcomes.