FSHR rs587745372: Understanding This Rare Genetic Variant
The rs587745372 variant is a rare genetic change located near regulatory sequences of the FSHR gene. It is currently being studied for its potential influence on follicle-stimulating hormone signaling and its role in human gametogenesis.
What each genotype means
Typical FSH receptor baseline
You carry two copies of the common reference allele for this FSHR locus. Current genetic evidence indicates typical follicle-stimulating hormone receptor function without any of the experimental effects evaluated for rare regulatory changes. Because this is the baseline genotype found across global populations, it does not alter reproductive or gametogenesis trait expectations on its own.
Carried by more than 99.9% of individuals across all major ancestry groups in gnomAD.
Rare regulatory variant carrier
You carry one copy of the rare variant allele neighboring the FSHR regulatory sequence. Research evaluating rare non-coding and near-regulatory variants in this locus for impacts on hormone receptor expression and gametogenesis remains limited, with evidence showing moderate and inconclusive clinical significance. Carrying this allele is considered an experimental association and should not be interpreted as an impairment of fertility or endocrine health.
Extremely rare, found in fewer than 1 in 10,000 individuals globally (gnomAD MAF < 0.0001).
Rare homozygous variant
You carry two copies of the very rare variant allele in this FSHR regulatory region. Due to the extreme rarity of this change, specific clinical outcomes and precise effects on receptor signaling or reproductive parameters have not been conclusively established in large cohorts. If undergoing assisted reproductive technologies or hormone evaluation, any personalized management should be guided by your clinician based on standard clinical testing rather than this rare marker alone.
Exceptionally rare globally, with an estimated prevalence of less than 1 in 100,000,000 individuals.
What is rs587745372?
The rs587745372 variant is a single nucleotide polymorphism (SNP) situated within the genomic region of the FSHR gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is categorized as rare, meaning it appears infrequently in the general population. It is located in proximity to key regulatory sequences that help control how the FSHR gene is expressed. Because it sits in a regulatory area rather than a protein-coding region, researchers are interested in whether it might alter the timing, location, or amount of receptor production. Understanding such variants is a primary goal of modern genomics, as they provide clues into the complex machinery that regulates human development and reproductive health.
The Role of the FSHR Gene
The FSHR gene provides instructions for creating the follicle-stimulating hormone receptor, a protein that belongs to the G-protein coupled receptor family. This receptor is essential for normal reproductive function in both males and females. In females, it is primarily expressed in the ovaries, where it mediates the effects of follicle-stimulating hormone to support follicle maturation and egg development. In males, the receptor is found in the testes, where it plays a critical role in the development of Sertoli cells and the maintenance of healthy spermatogenesis. When the FSHR gene functions correctly, it ensures that the body responds appropriately to hormonal signals. Disruptions in this gene can lead to various reproductive conditions, making it a significant focus for researchers studying fertility and endocrine health.
Research and Evidence
Current evidence regarding rs587745372 is classified as moderate. Scientific research into this variant is ongoing, with studies primarily focused on its potential impact on gametogenesis—the process by which gametes are produced. Because this variant is rare, clinical data is limited, and it is often evaluated alongside other known FSHR variants that have more established links to conditions like ovarian dysgenesis or hyperstimulation syndrome. It is important to note that the presence of a variant does not automatically imply a clinical diagnosis. Many variants in the FSHR gene are benign, and even those with functional consequences may have variable effects depending on an individual's overall genetic background. Researchers continue to use advanced sequencing and functional assays to determine if this specific variant contributes to measurable differences in hormone sensitivity.
Population Frequency
According to data from the Genome Aggregation Database (gnomAD), the minor allele frequency (MAF) for rs587745372 is less than 0.0001. This extremely low frequency indicates that the variant is very uncommon across the diverse populations represented in global genomic databases. Because it is so rare, it is difficult to draw broad conclusions about its distribution across specific ancestral groups. Most individuals do not carry this variant, and its rarity is a key reason why large-scale studies are required to fully understand its biological significance. When a variant is this infrequent, it is often identified in the context of specialized research studies rather than routine clinical screening.
What This Information Means for You
Information about genetic variants like rs587745372 is intended for educational purposes and should not be used for self-diagnosis or medical decision-making. Genetic associations are statistical in nature and do not account for the complex interplay of environmental factors, lifestyle, and other genes that influence reproductive health. If you have concerns about fertility, hormone levels, or reproductive outcomes, it is essential to consult with a qualified healthcare provider or a reproductive endocrinologist. They can provide personalized guidance based on your medical history and clinical testing. Never make changes to medications or treatment plans based on genetic data without first discussing them with your clinician or pharmacist, as they are the only ones qualified to interpret these results in the context of your specific health needs.
How common is this variant?
The rs587745372 variant is very rare, with a minor allele frequency (MAF) of less than 0.0001 as reported in gnomAD.
Frequently asked questions
Is rs587745372 a cause of infertility?
There is no evidence that this specific variant is a direct cause of infertility. While some FSHR variants are linked to reproductive conditions, rs587745372 is rare and its clinical significance is still being researched.
Should I get tested for this FSHR variant?
Routine testing for this variant is not recommended. 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 FSHR genotype?
No, your genotype is determined at conception and cannot be changed. Genetic information is a static part of your biological makeup.
Where can I find more information about FSHR variants?
You can find reliable information through resources like MedlinePlus Genetics, the NCBI Gene database, or by speaking with a certified genetic counselor. These sources provide evidence-based summaries of gene functions and known variants.
Sources & further reading
Educational information only, last refreshed 10/19/2026. 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 linked to ovarian dysgenesis, potentially affecting hormonal regulation and physical appearance related to sexual maturation.
This variant is associated with ovarian dysgenesis, which can impact secondary sexual characteristics and physical development.
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.
FSHR intronic variant associated with ovarian response to follicle-stimulating hormone stimulation in assisted reproductive technology.