FSHB rs10842262: Hormones, Menstrual Timing, and Menopause
The single-nucleotide polymorphism rs10842262 is a common non-coding variant situated in the upstream regulatory region of the FSHB gene on chromosome 11. Large-scale genome-wide association studies have linked variants in this regulatory locus to circulating levels of follicle-stimulating hormone, slight variations in menstrual cycle length, and the timing of natural menopause. Because these findings represent modest population-level statistical associations rather than deterministic diagnostic outcomes, individual reproductive health remains heavily influenced by a wide array of genetic and lifestyle factors.
What each genotype means
Typical baseline FSH levels
You carry two copies of the common T allele at rs10842262, which is associated with typical baseline follicle-stimulating hormone (FSH) regulation. In genome-wide association research, individuals with this genotype generally exhibit average population patterns for menstrual cycle timing and timing of natural menopause. Because this variant represents a modest regulatory signal with limited independent evidence, it is not diagnostic of any reproductive condition.
Carried by approximately 70% to 75% of individuals of European ancestry, and represents the vast majority genotype in most global populations.
Modestly altered FSH regulation
You carry one copy of the C allele, which has been linked in population-level studies to modest differences in circulating FSH levels and subtle shifts in reproductive timing, such as menstrual cycle length and age at natural menopause. Current evidence for this specific variant is limited and associations indicate minor statistical shifts rather than direct clinical outcomes. It does not indicate infertility or hormonal dysfunction on its own.
Found in approximately 20% to 25% of individuals of European descent, while being considerably less common in East Asian and African populations.
Atypical FSH regulatory profile
You carry two copies of the less common C allele at this regulatory locus upstream of the FSHB gene. Research associations suggest this genotype may be associated with measurable changes in circulating follicle-stimulating hormone levels, slightly altered cycle characteristics, or variations in menopausal timing. However, the overall strength of clinical evidence remains limited, and this genotype should be viewed as a modest statistical influence rather than a medical diagnosis.
Found in roughly 2% to 3% of individuals of European ancestry and is rare across most other global ancestral groups.
Variant Identity and Genomic Location
The genetic variant rs10842262 is a single-nucleotide polymorphism (SNP) positioned on the short arm of chromosome 11 (11p14.1) within the upstream regulatory region flanking the follicle-stimulating hormone beta subunit (FSHB) gene. It involves an exchange between cytosine (C) and thymine (T) alleles. Because this variant does not lie within the protein-coding sequence of the gene, it does not alter the primary amino acid sequence of the resulting hormone peptide. Instead, modern functional genomics and expression quantitative trait loci (eQTL) studies suggest that variants located in this non-coding upstream corridor can modulate transcription factor binding affinity or enhancer activity. This alteration can subtly influence the transcriptional output of the FSHB promoter, thereby adjusting baseline hormone synthesis in the anterior pituitary gland.
The Biological Role of the FSHB Gene
The FSHB gene encodes the unique beta subunit of follicle-stimulating hormone (FSH), an essential glycoprotein hormone secreted by gonadotropic cells within the anterior pituitary gland. While FSH shares an identical alpha subunit with luteinizing hormone (LH), thyroid-stimulating hormone (TSH), and human chorionic gonadotropin (hCG), its beta subunit confers structural and receptor specificity. In females, circulating FSH is vital for ovarian folliculogenesis, driving the recruitment and maturation of ovarian follicles and triggering the enzymatic synthesis of estrogen. In males, FSH stimulates testicular Sertoli cells to support proper spermatogenesis. Normal reproductive physiology depends on precise feedback regulation involving gonadotropin-releasing hormone (GnRH), inhibins, and sex steroids, making the regulatory control of FSHB expression a central driver of reproductive timing.
Scientific Evidence: Hormones, Menstrual Cycles, and Menopause
Genome-wide association studies (GWAS) and systematic meta-analyses curated in repositories like the GWAS Catalog have repeatedly identified the FSHB upstream region as a key locus influencing endocrine traits. Genetic variants in this regulatory corridor, which are in strong linkage disequilibrium with one another, demonstrate measurable statistical correlations with serum FSH concentrations, menstrual cycle duration, and age at natural menopause. For instance, alleles associated with lower pituitary FSH expression often correlate with modest extensions in menstrual cycle length—often by a fraction of a day—and small shifts in the timing of menopause. However, the overall evidence strength for rs10842262 directly as a causal driver remains categorized as limited. The observed effect sizes are subtle, and the variant primarily functions as a statistical marker within a complex, highly correlated regulatory block.
Population Distribution and Ancestry Trends
Data from large-scale reference datasets such as the Genome Aggregation Database (gnomAD) indicate that rs10842262 is a common polymorphism, though its exact allele frequencies vary across world ancestries. In European populations, the minor allele frequency is approximately 0.15 (15%), meaning that about 25% to 30% of European individuals carry at least one copy of the minor allele. In contrast, frequency distributions can shift significantly across African, East Asian, and admixed American reference panels. Because linkage disequilibrium architecture varies widely across global ancestries, an association observed with rs10842262 in one group may not track identically in another, underscoring the importance of evaluating genetic data within an appropriate ancestry-specific genomic context.
Clinical Realities: What This Information Means for You
Understanding your rs10842262 genotype provides an interesting glimpse into the biological architecture governing human endocrinology, but it cannot be used for clinical diagnosis or predictive testing. Carrying an allele linked to lower or higher baseline hormone transcription does not diagnose infertility, polycystic ovary syndrome (PCOS), premature ovarian insufficiency, or any specific menopausal timeline. Complex reproductive milestones are polygenic, shaped by hundreds of genetic loci interacting alongside nutrition, body composition, environmental exposures, and general health status. Anyone experiencing irregular cycles, reproductive health concerns, or fertility questions should rely on standard medical evaluations, including clinical hormone blood panels and pelvic imaging, in consultation with a qualified gynecologist or reproductive endocrinologist.
How common is this variant?
The minor allele occurs at a frequency of approximately 0.15 in European populations according to gnomAD data, with frequency patterns varying across other global ancestries.
Frequently asked questions
Can my rs10842262 genotype predict when I will reach menopause?
No. While research associates variants in the FSHB promoter locus with subtle statistical differences in the age of natural menopause, the individual effect size is very small—usually measured in months rather than decades. Menopausal timing is a complex biological trait determined by hundreds of genes and various environmental factors.
Does having a variant allele mean I have an endocrine disorder?
No, rs10842262 is a common, benign regulatory variant and is not classified as pathogenic by clinical databases like ClinVar. Having one or two copies of the minor allele does not cause or diagnose conditions such as premature ovarian failure or polycystic ovary syndrome.
How does an upstream non-coding variant change hormone levels?
Variants located upstream of a gene often sit within regulatory DNA elements such as promoters or enhancers that bind transcription factors. Changes in the DNA sequence here can slightly alter how efficiently the FSHB gene is transcribed into mRNA, leading to slight differences in how much follicle-stimulating hormone is secreted by the pituitary gland.
Should I test this variant if I am undergoing fertility treatment?
Standard clinical guidelines do not recommend routine standalone genotyping of rs10842262 for fertility management or assisted reproductive technology (ART). Physicians monitor direct serum hormone levels (such as FSH, estradiol, and anti-Müllerian hormone) and ovarian ultrasound markers, which provide actionable clinical insights that individual SNPs cannot provide.
Sources & further reading
Educational information only, last refreshed 9/11/2026. 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.