INHA rs2072632: Variant Overview and Reproductive Health
The genetic variant rs2072632 is a single-nucleotide polymorphism located in the promoter region of the human INHA gene. It has been examined in candidate-gene studies for potential statistical associations with premature ovarian insufficiency (POI) and variation in ovarian reserve. However, overall scientific evidence for its impact remains limited and mixed across diverse populations.
What each genotype means
Typical ovarian reserve profile
You carry two copies of the common C allele (often noted in research as c.-16C). In published studies, this genotype reflects the baseline population pattern for INHA promoter expression and has not been linked to an increased risk of premature ovarian insufficiency. However, overall reproductive health and ovarian reserve depend on a wide combination of lifestyle factors and genetic markers.
Carried by approximately 70% to 80% of individuals across European and East Asian populations.
Altered ovarian reserve association
You carry one copy of the T allele (historically referred to as c.-16T in scientific literature). Some association studies have evaluated this promoter variant in relation to premature ovarian insufficiency and altered inhibin alpha expression, but reported findings are mixed, limited in sample size, and vary across ancestries. Carrying this genotype represents a statistical finding in research cohorts rather than a clinical indicator or diagnosis of diminished ovarian reserve.
Carried by roughly 18% to 25% of individuals in European and East Asian populations.
Atypical promoter genotype
You carry two copies of the less common T allele (c.-16T). Although research into INHA promoter polymorphisms has explored potential associations with premature ovarian failure and ovarian function, clinical evidence remains limited and inconsistent across different ethnic groups. This result does not indicate that you will experience premature ovarian failure, as ovarian health is influenced by many hormonal and genetic factors.
Uncommon, carried by approximately 1% to 3% of individuals in European and East Asian cohorts.
Genetic Architecture and Location
The single-nucleotide polymorphism rs2072632 is situated on chromosome 2 within the 5-prime promoter region of the INHA gene (often described in earlier literature as the -16C/T or -124A/G promoter polymorphism depending on transcript reference coordinates). Because it is located in the non-coding promoter segment rather than an exon, rs2072632 does not alter the amino acid sequence of the resulting protein. Instead, researchers hypothesize that regulatory variations in this region could theoretically influence gene transcription efficiency or binding affinity for key transcription factors, altering downstream protein expression levels.
Biological Role of the INHA Gene
The INHA gene encodes the inhibin alpha subunit, a critical peptide component of the dimeric protein hormones inhibin A and inhibin B. Produced predominantly by the granulosa cells of developing ovarian follicles in females, inhibins play a central role in the negative feedback regulation of follicle-stimulating hormone (FSH) release from the anterior pituitary gland. By selectively downregulating FSH secretion, inhibins help coordinate follicular maturation, selection of dominant follicles, and overall menstrual cycle homeostasis. Perturbations in inhibin signaling are therefore frequently explored as potential biological pathways underlying premature follicular depletion.
State of Evidence on Reproductive Associations
Multiple candidate-gene association studies have evaluated rs2072632 in cohorts of women diagnosed with premature ovarian insufficiency (POI), also known as premature ovarian failure (POF). While several small case-control investigations reported a higher frequency of the minor allele among individuals with reduced ovarian reserve or POI, larger and well-powered replication studies failed to confirm a definitive causative link. Due to inconsistent findings across cohorts, potential publication bias in initial candidate-gene screens, and the absence of clear genome-wide significant signals in broader GWAS datasets, current consensus rates the clinical evidence linking rs2072632 to ovarian dysfunction as limited and non-diagnostic.
Population Genetics and Diversity
According to broad population reference databases like gnomAD and dbSNP, the minor allele for rs2072632 displays varying frequencies worldwide. In European and East Asian cohorts, the minor allele frequency generally ranges between 0.10 and 0.15, meaning that heterozygous carriers represent a noticeable minority in these groups. Allelic distributions can fluctuate further among different sub-populations, which likely contributes to the variable association results reported across different ethnic groups in localized candidate-gene studies.
Clinical Interpretation and Limitations
A person's genotype at rs2072632 cannot diagnose, predict, or rule out premature ovarian insufficiency, early menopause, or diminished ovarian reserve. Premature ovarian insufficiency is an etiologically complex condition driven by a combination of major monogenic factors (such as FMR1 premutations), autoimmune conditions, iatrogenic exposures, and polygenic background. Genotyping data from recreational or direct-to-consumer services regarding rs2072632 should be viewed strictly as educational genetic information rather than a medical indicator of fertility status.
How common is this variant?
The minor allele frequency for rs2072632 is approximately 0.10 to 0.15 in Asian and European cohorts, while homozygous minor genotypes typically occur in 1% to 3% of individuals across these groups.
Frequently asked questions
Does carrying the rs2072632 variant mean I will develop premature ovarian insufficiency?
No. The scientific evidence linking rs2072632 to premature ovarian insufficiency is classified as limited and inconsistent. Most individuals carrying this common variant maintain normal ovarian function and reproductive lifespans.
What is premature ovarian insufficiency (POI)?
Premature ovarian insufficiency is defined as the loss of predictable ovarian function before age 40, characterized by absent or irregular menstrual periods and elevated levels of follicle-stimulating hormone (FSH). It can arise from chromosomal, autoimmune, environmental, or unknown causes.
Can testing for rs2072632 evaluate my current fertility or egg reserve?
No, rs2072632 is not a clinical test for fertility. Clinical assessment of ovarian reserve relies on validated biochemical and imaging tests ordered by a reproductive specialist, such as anti-Müllerian hormone (AMH) levels, day-3 FSH, and antral follicle count ultrasound.
Why do different scientific studies report conflicting findings for this variant?
Early candidate-gene studies often examined small groups of patients, which can lead to false-positive or statistically noisy results. When subsequent studies analyzed larger, diverse cohorts, they frequently could not replicate the reported associations, demonstrating the difficulty of studying complex reproductive traits.
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 rs2072632?
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 — $29