FSHR rs2268361: Understanding Your Genetic Variant
The rs2268361 variant is a single nucleotide polymorphism located within the FSHR gene, which encodes the receptor for follicle-stimulating hormone. Research has investigated its potential association with how an individual's ovaries respond to hormone stimulation during fertility treatments.
What each genotype means
Typical FSHR response profile
This genotype represents the most common genetic configuration for this specific intronic location. Research into this variant suggests it may be associated with variations in how the ovaries respond to follicle-stimulating hormone during assisted reproductive technology, though the evidence remains limited. You should discuss any concerns regarding ovarian stimulation protocols with your fertility specialist.
Carried by approximately 36% of individuals in European and East Asian populations.
Intermediate FSHR response profile
Carrying one copy of the variant allele may influence the sensitivity of your ovarian follicles to hormone stimulation. Studies on this intronic variant indicate a potential association with ovarian response outcomes, but the clinical significance is not fully established. Please consult with your reproductive endocrinologist to understand how this might relate to your specific treatment plan.
Carried by approximately 48% of individuals in European and East Asian populations.
Variant FSHR response profile
This genotype is associated with the variant allele at this position, which has been studied for its potential role in modulating ovarian response to follicle-stimulating hormone. Because the evidence linking this specific intronic variant to clinical outcomes is limited, it should not be used as a standalone diagnostic tool. Discuss your reproductive health goals and any planned stimulation cycles with your clinician.
Carried by approximately 16% of individuals in European and East Asian populations.
What is rs2268361?
The rs2268361 variant is a specific genetic change, or single nucleotide polymorphism (SNP), located in the FSHR gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This particular variant is described as intronic, meaning it is located within an intron—a non-coding region of the gene that is removed during the process of creating a functional protein. While intronic variants do not change the amino acid sequence of the resulting protein directly, they can sometimes influence how genes are regulated or how messenger RNA is processed. Scientists track these variants to understand if they correlate with specific biological traits or clinical outcomes, such as how the body reacts to medical interventions involving hormones.
The Role of the FSHR Gene
The FSHR gene provides instructions for making the follicle-stimulating hormone receptor. This receptor is a G-protein-coupled receptor found primarily on the surface of cells in the ovaries and testes. In the ovaries, this receptor is essential for the development and maturation of ovarian follicles, which contain the eggs. When follicle-stimulating hormone (FSH) binds to this receptor, it triggers a signaling cascade that promotes follicular growth and estrogen production. Because of its central role in reproduction, variations in the FSHR gene have been studied extensively to determine if they influence fertility, the age of menopause, or the success rates of assisted reproductive technologies like in vitro fertilization (IVF).
Research and Evidence Strength
The evidence linking rs2268361 to clinical outcomes is currently considered limited. While some studies have explored the role of various FSHR polymorphisms in ovarian response to exogenous hormone stimulation, the findings are often mixed or require larger, more diverse cohorts to confirm. Some research has noted differences in allele distributions in specific groups, such as those with polycystic ovarian morphology, but these associations do not necessarily imply a direct cause-and-effect relationship. It is important to recognize that reproductive health is a complex trait influenced by many genes, environmental factors, and lifestyle variables. Consequently, a single SNP like rs2268361 is unlikely to be a sole determinant of how a person responds to fertility medication.
Population Frequency
Genetic variants are distributed differently across global populations, and rs2268361 is no exception. Current data indicates that this variant is relatively common, with a minor allele frequency (MAF) of approximately 0.40 observed across both European and East Asian cohorts. This high frequency suggests that the variant is a standard part of human genetic diversity rather than a rare mutation. Because it is so prevalent, it is found in a large portion of the population, which is why researchers are interested in understanding its potential, albeit subtle, influence on physiological processes. Understanding these frequencies helps scientists place individual genetic findings into a broader context of human variation.
What This Information Means for You
If you have received information about your rs2268361 genotype, it is important to view it as a single piece of a much larger biological puzzle. This variant is not a diagnostic tool, and it cannot predict your personal fertility or your specific response to medical treatments. Genetic associations are statistical observations made across large groups of people and do not necessarily apply to any one individual. If you are undergoing fertility treatments or have concerns about your reproductive health, please discuss your medical history, treatment goals, and any genetic testing results with your clinician or a reproductive endocrinologist. They are the only ones qualified to interpret your results in the context of your overall health and provide appropriate clinical guidance.
How common is this variant?
The rs2268361 variant is common, with a minor allele frequency of approximately 0.40 across European and East Asian populations.
Frequently asked questions
Can rs2268361 predict my success with IVF?
No, this variant cannot predict the success of IVF. While researchers study how FSHR variants might influence ovarian response, these findings are statistical and do not provide a reliable prediction for an individual's clinical outcome.
Should I change my fertility medication based on this SNP?
You should never change your medication or dosage based on genetic test results without consulting your doctor. Always discuss your genetic information with your fertility specialist or pharmacist before making any changes to your treatment plan.
Is rs2268361 a disease-causing mutation?
No, rs2268361 is a common genetic variant, not a disease-causing mutation. It is a normal part of human genetic variation and is not associated with a specific genetic disorder.
Where can I find more information on FSHR variants?
You can find reliable information through resources like the NCBI Gene database, the GWAS Catalog, or by speaking with a certified genetic counselor who can help interpret your specific results.
Sources & further reading
Educational information only, last refreshed 9/25/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Functional polymorphism in the follicle-stimulating hormone receptor promoter modulating ovarian response and gonadotropin requirement during IVF stimulation.
This variant is associated with ovarian dysgenesis, which can impact secondary sexual characteristics and physical development.
This variant is linked to ovarian dysgenesis, potentially affecting hormonal regulation and physical appearance related to sexual maturation.
Common missense variant (Thr307Ala) in the follicle-stimulating hormone receptor gene, associated with variations in ovarian response to gonadotropin stimulation.
Variant in the follicle stimulating hormone receptor gene associated with altered ovarian response.
Common non-coding regulatory variant in the follicle stimulating hormone receptor locus influencing ovarian sensitivity and gonadotropin dosage requirements.