ESR1
Estrogen Receptor 1
Gene Number: 2099
Location: 6q25.1
Key Functions: Estrogen signaling, reproductive system regulation, bone density maintenance, cardiovascular protection
ESR1 encodes estrogen receptor 1, a nuclear hormone receptor that binds estrogen and regulates the expression of genes involved in reproductive function, bone metabolism, and cardiovascular maintenance. It plays a central role in growth, differentiation, and cellular repair in estrogen-sensitive tissues.
Genetic variations in ESR1 are linked to altered hormonal sensitivity and risk for conditions such as osteoporosis, cardiovascular disease, and hormone-dependent cancers like breast cancer.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs9340799 | No matching variant or no valid DNA data | G | No interpretation available |
rs9340799 (–351 A>G, ESR1)
AA – Lower risk of endometriosis but normal risk of endometrial cancer; associated with greater age-related cognitive decline in women (R).
AG – Normal risk of endometriosis, ~0.75× lower risk of endometrial cancer, and average risk of cognitive impairment (R).
GG – ~10× higher risk of endometriosis, ~0.5× lower risk of endometrial cancer, and ~0.76× lower risk of cognitive impairment in ageing women (R).
Functional effect: The G allele modulates estrogen receptor α transcription, producing opposite effects across traits: increasing endometriosis risk but reducing endometrial cancer and cognitive decline risk.
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