AMHR2 rs2002555: Ovarian Stimulation and Follicular Response
The rs2002555 single-nucleotide polymorphism is a common regulatory variant situated in the promoter region of the AMHR2 gene, also known as -482 A>G. It is investigated primarily for its statistical association with altered follicular recruitment and ovarian responsiveness in women undergoing controlled ovarian hyperstimulation. Research evidence regarding its clinical impact remains limited and mixed, with some studies linking the minor allele to altered gonadotropin sensitivity and others finding no significant effect.
What each genotype means
Typical ovarian response profile
You carry two copies of the common A allele in the promoter region of the AMHR2 gene. In controlled ovarian hyperstimulation research, this genotype is generally associated with typical follicular sensitivity to gonadotropins and standard baseline estradiol dynamics. However, published findings across diverse reproductive stages and clinical cohorts remain mixed and limited.
Carried by approximately 65% to 70% of individuals of European ancestry and is the predominant genotype across most populations.
Intermediate follicular sensitivity
You carry one copy of the -482 G minor allele in the AMHR2 gene promoter. Some clinical studies suggest this genotype may be associated with altered ovarian sensitivity to follicle-stimulating hormone and slight differences in estradiol production during early follicular development. Because published data show modest effects and some studies report no significant association, you should discuss any assisted reproductive medication dosing with your reproductive specialist or clinician.
Carried by approximately 25% to 30% of individuals of European descent and is less frequently observed in East Asian populations.
Altered gonadotropin sensitivity profile
You carry two copies of the -482 G variant allele in the AMHR2 gene promoter. Research literature links this homozygous genotype to altered follicular responsiveness, differences in early follicular estradiol levels, and variations in ovarian stimulation outcomes, though evidence is limited and inconsistent between cohorts. If you are undergoing fertility treatments involving gonadotropins, consult your physician or reproductive endocrinologist regarding protocol planning and response monitoring.
Carried by roughly 3% to 4% of individuals in European populations.
Molecular Identity and Location
The single nucleotide polymorphism cataloged as rs2002555 represents a single-base substitution located upstream of the coding sequence in the promoter region of the AMHR2 gene on chromosome 12. In scientific literature, it is frequently designated as the -482 A>G promoter polymorphism, reflecting an adenine-to-guanine exchange 482 base pairs before the transcriptional start site. Because promoter regions serve as docking sites for transcription factors and cellular machinery that control how actively a gene is transcribed into messenger RNA, variants in this zone are studied for their potential to alter baseline gene expression without altering the final amino acid sequence of the protein.
Biological Role of the AMHR2 Receptor
The AMHR2 gene provides the biological blueprint for anti-Müllerian hormone receptor type II, a membrane-bound serine/threonine kinase receptor. In female reproductive physiology, this receptor serves as the binding partner for anti-Müllerian hormone (AMH), a critical regulator produced by granulosa cells in growing ovarian follicles. Binding of AMH to the AMHR2 receptor complex triggers intracellular signaling cascades that inhibit excessive primordial follicle recruitment and modulate follicular sensitivity to follicle-stimulating hormone (FSH). By moderating follicle responsiveness, the AMH-AMHR2 pathway helps maintain steady, controlled maturation during the ovarian cycle.
Controlled Ovarian Stimulation and Infertility Studies
During assisted reproductive technology (ART) protocols like in vitro fertilization (IVF), clinicians administer exogenous gonadotropins to stimulate multiple follicles simultaneously. Multiple cohort studies and meta-analyses have evaluated whether the rs2002555 G allele impacts this response. Some investigations have correlated the G allele with altered gonadotropin requirements, variations in retrieved oocyte counts, and subtle shifts in the risk of ovarian hyperstimulation syndrome (OHSS). However, this evidence base is classified as limited: several prospective studies have found no statistically significant correlation between rs2002555 genotypes and live birth rates, peak estradiol levels, or cycle cancellation rates.
Ancestry and Population Prevalence
Allele distributions for rs2002555 vary across geographic and ethnic populations. In European cohorts, the minor G allele typically occurs at a frequency around 18% to 20%, resulting in homozygous GG carriers representing only a small fraction of individuals, while heterozygous AG carriers comprise approximately 30% of the population. Studies exploring cohorts across Middle Eastern, Asian, and other global populations have identified modest differences in minor allele frequency, emphasizing that background genetic architecture and cohort differences may explain why association studies yield conflicting clinical conclusions.
What You Can and Cannot Conclude
Identifying an individual's rs2002555 genotype provides basic biological information regarding a common promoter variant, but it cannot diagnose infertility, predict whether an IVF cycle will succeed, or dictate a medication regimen. In modern reproductive medicine, clinical protocols are directed by validated physiological biomarkers, including serum AMH measurements, baseline antral follicle count (AFC) via transvaginal ultrasound, age, and individual response to therapy. Patients should never adjust gonadotropin dosing or alter treatment plans based on direct-to-consumer genetic findings, but should instead review all fertility assessments with a reproductive endocrinologist.
How common is this variant?
The minor G allele has a frequency of approximately 0.18 in European populations, with heterozygous AG genotypes occurring in nearly one-third of individuals and homozygous GG genotypes remaining uncommon.
Frequently asked questions
Does having the rs2002555 G allele cause female infertility?
No, carrying the G allele does not cause infertility. rs2002555 is a common regulatory variant that has only been evaluated for subtle statistical differences in ovarian response to hormone medications, not reproductive failure.
Can rs2002555 predict how many eggs I will produce during IVF?
Current reproductive genetics research indicates that rs2002555 is not a reliable standalone predictor of retrieved egg counts. Standard clinical markers like serum AMH levels and antral follicle counts provide far more accurate assessments of ovarian reserve.
Is rs2002555 classified as a medical diagnosis or disease variant?
No, rs2002555 is cataloged as a trait-associated genetic polymorphism with limited evidence. It is not considered a pathogenic mutation in databases such as ClinVar and does not signify an inherited medical disorder.
Should gonadotropin doses for IVF be altered based on this genotype?
No, clinical guidelines do not recommend modifying gonadotropin doses or stimulation protocols based on rs2002555 status. Medication choices and dosages must always be established by a reproductive specialist based on established clinical and hormonal markers.
Sources & further reading
Educational information only, last refreshed 9/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs2002555?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in AMHR2
Pathogenic variant in AMHR2 associated with Persistent Müllerian Duct Syndrome (PMDS).
Receptor inactivating variant causing persistent Müllerian duct syndrome with bilateral cryptorchidism and inguinal hernias.
Pathogenic loss-of-function variant in AMHR2 associated with persistent Müllerian duct syndrome in genetic males.