ESR1 rs757344: What Your Genotype Means
The rs757344 variant is a genetic change located within the ESR1 gene, which provides instructions for making the estrogen receptor alpha protein. Research has linked this specific variant to variations in the timing of reproductive milestones, such as the age at which individuals experience menarche and natural menopause.
What each genotype means
Typical reproductive timing
This genotype is associated with standard population-level trends for the timing of reproductive milestones like menarche and menopause. Research indicates that ESR1 variants contribute to the complex genetic architecture of these traits, though individual timing is influenced by many other genetic and environmental factors. This result does not provide a clinical diagnosis or a specific prediction for your reproductive health.
This genotype is common in populations of European ancestry, consistent with the reported minor allele frequency.
Typical reproductive timing
This genotype is associated with standard population-level trends for the timing of reproductive milestones like menarche and menopause. Research indicates that ESR1 variants contribute to the complex genetic architecture of these traits, though individual timing is influenced by many other genetic and environmental factors. This result does not provide a clinical diagnosis or a specific prediction for your reproductive health.
This genotype is common in populations of European ancestry, consistent with the reported minor allele frequency.
Typical reproductive timing
This genotype is associated with standard population-level trends for the timing of reproductive milestones like menarche and menopause. Research indicates that ESR1 variants contribute to the complex genetic architecture of these traits, though individual timing is influenced by many other genetic and environmental factors. This result does not provide a clinical diagnosis or a specific prediction for your reproductive health.
This genotype is common in populations of European ancestry, consistent with the reported minor allele frequency.
Understanding the rs757344 Variant
The rs757344 variant is a single nucleotide polymorphism (SNP) situated within the ESR1 gene. In genetics, an intronic variant like rs757344 is located in a non-coding region of the gene known as an intron. While introns do not provide the direct code for building proteins, they play critical roles in regulating how genes are expressed and processed. Because this variant sits within the ESR1 gene, researchers investigate whether it influences the production or function of the estrogen receptor alpha protein. By studying these specific locations in the human genome, scientists aim to understand how subtle differences in DNA sequence contribute to the biological diversity observed in human populations, particularly regarding traits influenced by hormonal signaling.
The Role of the ESR1 Gene
The ESR1 gene encodes the estrogen receptor alpha, a protein that acts as a transcription factor. This receptor binds to estrogen, a primary female sex hormone, and helps regulate the expression of various genes throughout the body. Estrogen receptors are found in many tissues, including the reproductive system, bone, and cardiovascular system. By binding to estrogen, the receptor helps control processes related to growth, development, and reproductive health. Because estrogen signaling is fundamental to the timing of puberty and the transition into menopause, variations in the ESR1 gene are frequently studied to determine if they alter the sensitivity or efficiency of this hormonal pathway. Understanding this gene is essential for grasping how the body responds to estrogen across the lifespan.
Research and Reproductive Associations
Genome-wide association studies (GWAS) have identified rs757344 as a marker associated with reproductive timing, specifically the age at menarche and the onset of natural menopause. The evidence for these associations is considered moderate, as these traits are complex and influenced by a combination of many genetic factors, environmental influences, and lifestyle variables. While statistical links have been observed in large-scale studies, it is important to note that a single SNP typically has a very small individual effect on these complex biological outcomes. Research in this field continues to evolve, and while the association with reproductive timing is documented in the literature, the exact biological mechanism by which this specific intronic variant influences these traits remains a subject of ongoing scientific investigation.
Interpreting Your Genetic Information
Information about your genotype for rs757344 provides insight into your genetic makeup but does not serve as a medical diagnosis or a predictor of specific reproductive health outcomes. Because reproductive timing is a multifactorial trait, your genetic profile is only one piece of a much larger puzzle that includes your overall health history and environmental factors. You cannot use this information to make medical decisions or to predict the exact timing of life events. If you have questions about your reproductive health, fertility, or the timing of menopause, it is essential to consult with a qualified healthcare provider or a reproductive specialist. They can provide personalized guidance based on your clinical history rather than relying on individual genetic markers.
How common is this variant?
The rs757344 variant is common, with a reported minor allele frequency of approximately 0.42 in European populations according to gnomAD data.
Frequently asked questions
What does it mean if I have the rs757344 variant?
Having this variant simply means you carry a specific DNA sequence at this location in the ESR1 gene. It is a common genetic variation and is not a disease-causing mutation.
Can this variant predict when I will reach menopause?
No. While this variant is statistically associated with the timing of menopause in large population studies, it cannot be used to predict an individual's specific age of menopause.
Is rs757344 linked to breast cancer risk?
The ESR1 gene is involved in estrogen signaling, which is relevant to breast cancer, but rs757344 is primarily studied in the context of reproductive timing. Always consult a doctor for concerns regarding cancer risk.
Should I be worried about my ESR1 genotype?
There is no reason for concern. Genetic variations like rs757344 are a normal part of human genetic diversity and do not indicate a health problem.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs757344?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in ESR1
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.