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Estrogen Receptor Polymorphism

Meaning

Estrogen Receptor Polymorphism refers to naturally occurring genetic variations, typically single nucleotide polymorphisms (SNPs), within the genes encoding the estrogen receptors, ESR1 (ER-alpha) and ESR2 (ER-beta). These common variants can subtly alter the structure, expression level, or ligand-binding affinity of the receptor protein, thereby influencing an individual’s tissue-specific response to estrogen. The presence of specific polymorphisms is clinically significant because it can affect an individual’s lifetime risk for estrogen-related conditions, such as breast cancer, osteoporosis, and cardiovascular disease, and may predict their differential response to hormone replacement therapy or selective estrogen receptor modulators (SERMs). Personalized hormonal management often considers these underlying genetic factors.