ESR2 rs61749341: Understanding Your Genetic Variant
The rs61749341 variant is a specific change in the DNA sequence of the ESR2 gene, which provides instructions for making the estrogen receptor beta protein. This variant has been studied for its potential associations with reproductive health, including ovulatory function and the risk of developing endometriosis.
What each genotype means
Typical estrogen receptor activity
This genotype represents the most common form of the ESR2 gene variant in many populations. Research into this specific variant suggests it may be associated with a different risk profile for reproductive conditions compared to those carrying the G allele, though individual risk is influenced by many genetic and environmental factors.
This is the most frequent genotype observed in most global populations.
Intermediate risk profile
Carrying one copy of the G allele may be associated with variations in estrogen receptor beta function. Studies have investigated this variant in the context of ovulatory health and endometriosis risk, but the clinical significance remains a subject of ongoing research and is not diagnostic of any condition.
This heterozygous genotype is found in a significant minority of individuals, consistent with a minor allele frequency of approximately 0.03 in European ancestries.
Increased risk association
This genotype is associated with the variant allele that has been studied for potential links to ovulatory dysfunction and endometriosis risk. While this association has been noted in research, it is important to remember that genetic predisposition is only one factor in reproductive health, and this result does not confirm the presence or future development of any medical condition.
This homozygous genotype is the least common, occurring in a small percentage of the population based on the reported minor allele frequency.
What is rs61749341?
The identifier rs61749341 refers to a single nucleotide polymorphism (SNP) located within the ESR2 gene. A SNP is a common type of genetic variation where a single "letter" in the DNA code—a nucleotide—differs between individuals. In the context of the human genome, rs61749341 represents a specific position where researchers have observed variation. This variant is categorized as a coding variant, meaning it occurs in a part of the gene that provides the blueprint for a protein. By studying these variations, scientists aim to understand how subtle differences in our genetic code might influence biological processes, such as how our bodies respond to hormones or how tissues develop and function over time.
The Role of the ESR2 Gene
The ESR2 gene encodes the estrogen receptor beta (ERβ) protein. This protein belongs to a family of nuclear receptors that act as transcription factors, which are essentially molecular switches that turn genes on or off. When estrogen or related molecules bind to the ERβ receptor, the complex enters the cell nucleus and regulates the expression of various target genes. Because estrogen signaling is fundamental to the development and maintenance of the female reproductive tract, as well as other systems like the skeletal and nervous systems, the function of ESR2 is highly significant. Variations in this gene may theoretically alter the structure or expression levels of the ERβ protein, potentially impacting how cells respond to hormonal signals.
Research and Reproductive Health
Scientific research has investigated the potential link between ESR2 variants and reproductive conditions, most notably endometriosis. Endometriosis is a complex, multifactorial condition where tissue similar to the lining of the uterus grows outside of it, often causing pain and infertility. Studies have explored whether specific genetic markers in the ESR2 gene might contribute to an individual's susceptibility to this condition. While some research suggests that ESR2 expression levels and specific polymorphisms may be associated with endometriosis-related infertility, the evidence remains moderate. It is important to note that complex conditions like endometriosis are influenced by a combination of many genetic factors, environmental exposures, and lifestyle elements, rather than a single genetic variant alone.
Population Frequency
Genetic variants are distributed differently across global populations, and understanding these frequencies is key to genomic research. According to data from the Genome Aggregation Database (gnomAD), the rs61749341 variant has a minor allele frequency (MAF) of approximately 0.03 in European ancestries. This means that the variant is relatively uncommon but present in a significant portion of the population. Frequency data helps researchers determine if a variant is rare or common, which informs how they design studies to test for disease associations. Because frequencies can vary widely between different ethnic and geographic groups, researchers often look at diverse cohorts to ensure that findings are robust and applicable across different populations.
Interpreting Your Genetic Information
If you have information about your genotype for rs61749341, it is important to view it within the context of your overall health. Genetic associations are statistical observations made across large groups of people and do not provide a medical diagnosis for an individual. Having a specific genotype does not guarantee that you will or will not develop a particular condition. If you have concerns about reproductive health, fertility, or symptoms related to endometriosis, the most effective step is to consult with a qualified healthcare provider or a reproductive specialist. They can evaluate your personal and family medical history, perform necessary clinical assessments, and provide guidance tailored to your specific health needs. Never use genetic data to make independent medical decisions.
How common is this variant?
The rs61749341 variant has a minor allele frequency of approximately 0.03 in European ancestries, according to gnomAD data.
Frequently asked questions
Does having the rs61749341 variant mean I have endometriosis?
No. Genetic variants are only one of many factors that contribute to complex conditions like endometriosis. A genetic result is not a diagnosis and cannot predict whether you will develop the condition.
What should I do if I am concerned about my reproductive health?
If you have concerns about your reproductive health, you should schedule an appointment with a gynecologist or a fertility specialist. They can provide a clinical evaluation based on your symptoms and medical history.
Is this variant linked to other health conditions?
While ESR2 has been studied in the context of various reproductive and hormonal conditions, the evidence for specific associations with rs61749341 is primarily focused on reproductive phenotypes. Research is ongoing to understand the full scope of its biological impact.
Where can I find more information about my specific genetic results?
You can discuss your genetic information with a certified genetic counselor. They are trained to help you understand the clinical significance of your results and how they relate to your personal health.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Synonymous polymorphism in estrogen receptor beta that modulates transcriptional responsiveness to estrogens and correlates with ovulatory function.
Coding variant in estrogen receptor beta (ESR2) associated with dysregulated local endometrial estrogen signaling and increased predisposition to deep infiltrating endometriosis.
ESR2 variant associated with age at natural menopause and estrogen signaling.