ESR1 rs2347867: what the research says
This variant in the estrogen receptor 1 gene is associated with human reproductive behavior and influences estrogen-responsive gene expression.
What each genotype means
Major allele homozygous
This genotype is associated with higher odds of above-median percent mammographic density in some studies, particularly in lean women. Research also suggests that individuals with this genotype may not show the same protective association between dietary enterolactone and breast cancer risk as those carrying the minor allele.
This is the major homozygous genotype and is generally the most common form found across most global populations.
Heterozygous carrier
As a carrier of one minor allele, your profile may show intermediate characteristics regarding estrogen-responsive gene expression and mammographic density markers. Research indicates that carriers of the minor allele may experience different interactions between dietary factors like enterolactone and breast cancer risk compared to those without the minor allele.
This genotype is found at varying frequencies depending on ancestral background, typically representing a significant portion of the population.
Minor allele homozygous
This genotype is associated with lower odds of above-median percent mammographic density compared to the major homozygous genotype, with effects most pronounced in lean women. Studies suggest that individuals with this genotype may benefit from a protective association between high plasma enterolactone levels and breast cancer risk.
This is the minor homozygous genotype and is generally less common than the major homozygous genotype across most populations.
Variable
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This variant in the estrogen receptor 1 gene is associated with an increased risk of endometriosis and may influence cognitive aging.
Estrogen receptor 1 variant associated with altered circulating estradiol levels, follicular maturation, and variability in age at natural menopause.
Variant in estrogen receptor 1 associated with variation in female reproductive timing, including age at menarche and natural menopause onset.
Common polymorphism in estrogen receptor alpha (ESR1) affecting target tissue responsiveness to estrogen, recurrent pregnancy loss risk, and bone-reproductive axis interactions.
Estrogen receptor 1 regulatory variant associated with variation in timing of menarche and bone density response to sex hormones.
Estrogen receptor 1 missense and intronic regulatory variation associated with ovarian responsiveness and fertilization rates in assisted reproductive technology.