FSHB rs11031002: Understanding Your Genetic Variant
The rs11031002 variant is a genetic change located near the FSHB gene, which provides instructions for making a subunit of follicle-stimulating hormone. Research has associated this variant with variations in circulating serum FSH concentrations and potential risks related to reproductive health, such as recurrent pregnancy loss.
What each genotype means
Typical FSHB promoter profile
This genotype represents the common variant configuration at the FSHB promoter. Research indicates that individuals with this genotype may have different circulating serum FSH concentrations compared to those carrying the A allele, and it has been studied in the context of reproductive health and endometriosis risk. Please note that these associations are statistical in nature and do not predict individual reproductive outcomes.
This is the most common genotype in European populations, consistent with a minor allele frequency of approximately 0.16 for the A allele.
Modified FSHB promoter profile
Carrying one copy of the A allele is associated with variations in circulating FSH levels and has been linked in some studies to a potentially lower risk of endometriosis. These findings are based on population-level observations and should not be interpreted as a diagnostic indicator of fertility or disease risk. Discuss any reproductive health concerns with your clinician.
Carried by a significant portion of the population, consistent with the expected frequency of the A allele in European cohorts.
Associated with altered FSH levels
Individuals with this genotype carry two copies of the A allele, which has been associated with lower circulating FSH concentrations in some research studies. This variant is also investigated for its potential protective effect against endometriosis risk. As these associations are complex and influenced by many factors, they should not be used to infer personal health status.
This is the least common genotype, occurring at a frequency consistent with the minor allele frequency of approximately 0.16 in European populations.
What is rs11031002?
The rs11031002 variant is a single nucleotide polymorphism (SNP) situated in the genomic region upstream of the FSHB gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. Because this specific variant is located in the promoter region—a segment of DNA that acts as an 'on-off' switch for gene expression—it is hypothesized to influence how much of the FSHB protein is produced. By sitting in this regulatory area, rs11031002 may alter the binding of transcription factors, which are proteins that help turn genes on or off. Scientists study these upstream variants to understand how subtle changes in DNA can lead to measurable differences in hormone levels, which are critical for various physiological processes, particularly those involved in the human reproductive system.
The Role of the FSHB Gene
The FSHB gene encodes the beta subunit of follicle-stimulating hormone (FSH). FSH is a vital glycoprotein hormone produced by the pituitary gland that plays a central role in human reproduction. In females, it stimulates the growth and maturation of ovarian follicles, which contain eggs, and regulates the menstrual cycle. In males, FSH is essential for spermatogenesis, the process by which sperm cells are produced in the testes. Because FSHB is a key component of this hormone, any variation that affects its expression can theoretically impact the overall levels of FSH circulating in the blood. Disruptions or significant changes in FSH levels are known to be linked to various reproductive conditions, including primary amenorrhea, infertility, and differences in the timing of menopause, highlighting the importance of this gene in maintaining endocrine balance.
Research and Associations
Current research has identified associations between variants in the FSHB locus and reproductive traits. Specifically, studies have linked certain alleles in this region to differences in serum FSH concentrations. While some variants in the FSHB promoter have been robustly associated with longer menstrual cycles and altered FSH levels in large-scale studies, the evidence for rs11031002 specifically regarding recurrent pregnancy loss is considered moderate. It is important to note that genetic associations are statistical in nature; they describe patterns observed across large populations rather than predicting a specific outcome for an individual. The biological mechanisms linking this specific SNP to pregnancy outcomes are still being investigated, and it is likely that multiple genetic and environmental factors contribute to reproductive health. As such, this variant should be viewed as one piece of a much larger, complex biological puzzle.
Population Frequency
Genetic variants are distributed differently across global populations, and rs11031002 is no exception. According to data from the Genome Aggregation Database (gnomAD), the minor allele frequency (MAF) for this variant in European populations is approximately 0.16, or 16%. This indicates that the variant is relatively common in this demographic. Frequency data is essential for researchers because it helps determine whether a variant is rare or common, which in turn informs how they design studies to test for associations with health traits. Because frequencies can vary significantly between different ancestral groups, findings observed in one population may not necessarily apply to others. Researchers continue to collect data across diverse cohorts to build a more comprehensive understanding of how this variant is distributed worldwide.
Interpreting Your Information
If you have received information about your rs11031002 genotype, it is important to understand that this is not a medical diagnosis. Genetic variants are only one factor among many—including lifestyle, environment, and other genes—that influence reproductive health. You cannot use this information to predict your fertility or pregnancy outcomes with certainty. If you have concerns about your reproductive health, menstrual cycle, or fertility, the most appropriate step is to consult with a qualified healthcare provider, such as a reproductive endocrinologist or a genetic counselor. They can provide context based on your personal medical history and clinical testing, which are far more informative than a single genetic variant. Avoid making health decisions based solely on genetic reports, and always discuss any questions about your results with a professional who can provide personalized medical guidance.
How common is this variant?
The rs11031002 variant has a minor allele frequency of approximately 0.16 in European populations according to gnomAD data.
Frequently asked questions
Is rs11031002 a cause of infertility?
No, rs11031002 is not a direct cause of infertility. It is a genetic variant associated with variations in hormone levels, but many factors contribute to fertility, and having this variant does not mean an individual will experience reproductive issues.
Should I get tested for this variant?
Routine testing for this variant is not standard medical practice. Genetic testing should only be performed under the guidance of a healthcare professional if there is a specific clinical reason to investigate your reproductive health.
Can I change my FSH levels through diet?
FSH levels are primarily regulated by the pituitary gland and the hypothalamic-pituitary-gonadal axis. While overall health and nutrition support endocrine function, there is no evidence that specific diets can override genetic predispositions or significantly alter FSH levels in a clinical sense.
What does 'moderate evidence' mean?
Moderate evidence means that while some studies have found a statistical association between the variant and a trait, the results may not be consistent across all studies or the biological mechanism is not yet fully understood. It suggests that more research is needed to confirm the findings.
Sources & further reading
Educational information only, last refreshed 9/22/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Promoter-adjacent variant linked to FSHB expression, influencing basal follicle-stimulating hormone levels, menstrual cycle duration, and twinning propensity.
Pathogenic loss-of-function variant causing isolated follicle-stimulating hormone deficiency leading to hypogonadotropic hypogonadism.
Functional promoter variant in FSHB influencing serum FSH concentrations and reproductive lifespan.
Variant in the promoter region of FSHB associated with circulating follicle-stimulating hormone levels, age at menarche, and reproductive lifespan.
Located in the promoter of FSHB (c.-211G>T), this variant downregulates follicle-stimulating hormone transcription and is strongly associated with male infertility traits (oligozoospermia) and altered female reproductive lifespan.
Variant in the promoter region of FSHB associated with altered follicle-stimulating hormone levels, timing of menarche, and female reproductive lifespan.