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CYP19A1 Gene Variants

Meaning

CYP19A1 gene variants refer to common polymorphisms or mutations found within the gene that encodes the aromatase enzyme, a cytochrome P450 enzyme responsible for the final step of estrogen synthesis. Aromatase converts androgens, such as testosterone, into estrogens, like estradiol. Variations in the CYP19A1 gene can significantly alter the enzyme’s activity, influencing the rate of estrogen production and local estrogen concentrations in various tissues, including bone, fat, and brain. Clinically, these genetic differences can affect an individual’s lifetime estrogen exposure, impacting conditions such as breast cancer risk, bone density, and the required dosage for hormone replacement therapy.