What is the Origin of Aromatase Polymorphism?

The term is rooted in molecular genetics and endocrinology, combining "aromatase," the common name for the P450 enzyme responsible for aromatization, and "polymorphism," meaning multiple common forms within a population. The CYP19A1 gene is located on chromosome 15, and its genetic diversity has been a focal point of research for understanding inter-individual variability in estrogen-dependent physiological processes. Identifying these genetic markers allows for a more personalized assessment of an individual's inherent hormonal profile.

What is the Mechanism of Aromatase Polymorphism?

A polymorphism in the regulatory or coding regions of the CYP19A1 gene can influence how efficiently the gene is transcribed or how effectively the resulting aromatase enzyme functions in peripheral tissues like adipose tissue. A more active variant may lead to higher peripheral estrogen levels, while a less active one might result in lower estrogen or higher androgen concentrations. This modulation of the androgen-to-estrogen conversion rate directly impacts the systemic endocrine milieu, influencing tissue-specific hormone action and downstream signaling pathways.

Aromatase Polymorphism

Meaning

Aromatase polymorphism refers to the presence of naturally occurring variations, specifically single nucleotide polymorphisms (SNPs), within the CYP19A1 gene that encodes the aromatase enzyme. This enzyme is physiologically crucial as it catalyzes the final, rate-limiting step in estrogen biosynthesis, converting androgens into estrogens. These specific genetic variations can alter the expression levels or the enzymatic activity of aromatase, leading to measurable individual differences in circulating estrogen concentrations. Such polymorphisms have significant clinical relevance in hormonal balance, impacting conditions like polycystic ovary syndrome or susceptibility to hormone-sensitive cancers.