Rs2234693 ∞ Area

Rs2234693

Meaning

Rs2234693 identifies a specific single nucleotide polymorphism (SNP) located within the CYP19A1 gene, which is responsible for encoding the aromatase enzyme. This genetic variant signifies a particular change at a single DNA base pair position in the human genome.

Context

This genetic marker exists within the human genome, specifically influencing the CYP19A1 gene’s function or expression. Aromatase, a cytochrome P450 enzyme, is essential for the biosynthesis of estrogens, converting androgens like testosterone into estradiol and androstenedione into estrone in various tissues throughout the body, including adipose tissue, gonads, and the brain.

Significance

Variations at the Rs2234693 locus can alter the activity or quantity of the aromatase enzyme, consequently impacting circulating estrogen levels and overall hormonal balance. Such genetic differences are associated with varying estrogen concentrations, which may influence bone mineral density, reproductive health, and susceptibility to certain hormone-sensitive conditions in individuals.

Mechanism

Rs2234693 is situated within the promoter region of the CYP19A1 gene. Polymorphisms in this regulatory area can affect the efficiency of gene transcription, leading to modified levels of aromatase enzyme production. This alteration directly influences the rate at which androgen precursors are converted into estrogens, affecting both systemic and localized estrogenic effects within physiological systems.

Application

Understanding an individual’s genotype for Rs2234693 can provide insights into their inherent hormonal profile and potential predispositions. In clinical practice, this genetic information may contribute to a more personalized assessment when evaluating hormone-related health concerns, assisting in discussions about potential hormonal imbalances or predicting responses to specific endocrine therapies.

Metric

The specific alleles present at Rs2234693 are determined through molecular genetic testing, typically utilizing DNA samples obtained from blood or saliva. While the SNP itself is a genetic measurement, its functional consequences can be inferred by evaluating circulating levels of estrogens, such as estradiol and estrone, alongside androgens in serum, providing a physiological assessment of aromatase activity.

Risk

Rs2234693 itself does not directly present a risk; however, specific genotypes may correlate with an altered risk for conditions influenced by estrogen metabolism, including osteoporosis, certain hormone-sensitive cancers, or reproductive disorders. Misinterpretation of genetic results or clinical interventions based solely on this SNP without considering a comprehensive clinical evaluation could lead to suboptimal management of an individual’s hormonal health.

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HRTioAugust 2, 2025

Rs2234693

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

How Do Estrogen Receptor Genetic Variations Influence Mood Stability?

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