FSHB rs11031006: What Your Genotype Means
The rs11031006 variant is a single nucleotide polymorphism located in the promoter region of the FSHB gene. It is associated with variations in serum follicle-stimulating hormone (FSH) concentrations and aspects of female reproductive lifespan.
What each genotype means
Typical FSHB expression profile
This is the most common genotype for this variant. Research indicates that individuals with this genotype may have slightly higher serum FSH levels and a statistically higher likelihood of conceiving fraternal twins compared to those carrying the A allele.
This is the major genotype, carried by the majority of individuals in European populations.
Intermediate FSHB expression profile
This genotype is associated with a modulation of FSHB expression, which can influence menstrual cycle length and reproductive timing. Statistical studies suggest a slightly lower likelihood of fraternal twinning compared to the GG genotype.
This heterozygous genotype is found in a significant portion of the population, occurring in roughly 1 in 3 to 1 in 4 individuals of European ancestry.
Minor allele FSHB profile
This genotype is associated with altered FSHB promoter activity, which may influence reproductive lifespan and menstrual cycle characteristics. Carriers may observe different statistical associations regarding reproductive timing compared to the major allele, though these effects are considered mild and multifactorial.
This is the minor homozygous genotype, occurring in approximately 2-3% of individuals of European ancestry.
Understanding the rs11031006 Variant
The rs11031006 variant is a specific change in the DNA sequence located within the promoter region of the FSHB gene. A promoter is a regulatory segment of DNA that acts like a switch, determining how much of a gene's product is created. In the case of rs11031006, research indicates that the minor allele (A) can influence the binding of transcription factors, such as Steroidogenic factor 1 (SF1), which in turn modulates the expression of the FSHB gene. Because this variant sits in a regulatory area rather than the protein-coding sequence itself, it does not change the structure of the resulting protein, but rather the quantity of the hormone produced. Geneticists study these types of variants to understand how subtle differences in gene regulation contribute to the wide range of physiological traits observed across the human population.
The Role of the FSHB Gene
The FSHB gene provides instructions for making the beta subunit of follicle-stimulating hormone (FSH). FSH is a vital hormone produced by the pituitary gland that plays a critical role in human reproduction. In females, it is essential for the growth and maturation of ovarian follicles, which contain eggs, and it helps regulate the menstrual cycle. In males, FSH is necessary for the production of sperm. Because FSH is so central to reproductive health, the regulation of its production is tightly controlled. Variations in the FSHB gene, such as rs11031006, can lead to differences in the baseline levels of circulating FSH. These differences are often studied in the context of reproductive physiology, as they may influence how an individual's body responds to hormonal signals throughout their reproductive lifespan.
Research and Evidence Strength
Current research into rs11031006 suggests an association with serum FSH concentrations and markers of reproductive lifespan. Studies have explored how this variant might influence the hormonal profile of individuals, particularly in the context of reproductive health. However, it is important to note that the evidence strength for this specific variant is currently considered limited. While some studies have identified statistical associations between the variant and hormonal levels, these findings are often complex and can be influenced by other genetic and environmental factors. The scientific community continues to investigate these links to determine the clinical significance of the variant. Because reproductive health is multifactorial, a single genetic variant like rs11031006 is rarely the sole determinant of a trait, and findings should be interpreted as part of a much larger, ongoing body of genomic research.
Population Frequency
The frequency of the rs11031006 variant varies across different ancestral groups. In European populations, the minor allele frequency is approximately 0.15. This means that about 15% of the alleles in these populations carry the minor variant, while the majority carry the common allele. Because genetic diversity is high across the globe, these frequencies may differ significantly in other populations. Understanding these frequencies is a key part of population genetics, as it helps researchers determine whether a variant is common or rare and provides context for how these genetic differences are distributed among humans. It is common for many genetic variants to show such geographic and ancestral patterns, reflecting the history of human migration and adaptation over thousands of years.
Interpreting Your Genetic Information
If you have information about your genotype for rs11031006, it is important to understand what this means in a practical sense. This variant is a tool for scientific research and population studies, not a diagnostic test for reproductive health or fertility. Because the evidence linking this variant to specific health outcomes is limited, it cannot be used to predict individual reproductive success or to make medical decisions. If you have concerns about your reproductive health, menstrual cycle, or hormone levels, the most appropriate step is to consult with a qualified healthcare provider or a reproductive endocrinologist. They can perform clinical evaluations, such as blood tests, which provide a much more accurate picture of your health than a single genetic variant. Always rely on professional medical advice rather than direct-to-consumer genetic reports when making decisions about your health.
How common is this variant?
The minor allele frequency for rs11031006 is approximately 0.15 in European populations, with varying frequencies observed across other global ancestries.
Frequently asked questions
Can rs11031006 predict my fertility?
No, rs11031006 cannot predict your fertility. While it is associated with variations in FSH levels, fertility is a complex trait influenced by many genetic, environmental, and lifestyle factors.
Should I be worried if I have the minor allele?
There is no reason to be worried. This variant is a common genetic difference found in the general population and is not a marker for disease or a clinical diagnosis.
Does this variant affect my hormone levels?
Research suggests an association between this variant and serum FSH concentrations. However, these associations are statistical in nature and do not necessarily mean an individual will have abnormal hormone levels.
Where can I get tested for this variant?
This variant is often included in commercial genetic testing panels. However, because the clinical utility is limited, it is not typically tested in a medical or clinical setting.
What should I do if I am concerned about my FSH levels?
If you have concerns about your hormone levels or reproductive health, you should consult a healthcare professional. They can order appropriate clinical blood tests to assess your actual hormone levels.
Sources & further reading
Educational information only, last refreshed 9/29/2026. 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.
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.
Functional variant in FSHB causing congenital isolated follicle-stimulating hormone deficiency.
