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Aromatase Genetic Variations

Meaning

Aromatase genetic variations refer to single nucleotide polymorphisms (SNPs) or other alterations within the CYP19A1 gene, which encodes the aromatase enzyme. This enzyme is physiologically crucial as it catalyzes the final step in estrogen biosynthesis, converting androgens like testosterone into estrogens such as estradiol. Variations in this gene can lead to altered enzyme activity, directly impacting the circulating levels and tissue-specific ratios of androgens and estrogens. Clinically significant variations may influence a patient’s risk profile for hormone-sensitive conditions or their response to specific hormonal therapies. Understanding these genetic differences is paramount for personalized endocrinology.