CYP19A1 rs2414097: What Your Genotype Means
rs2414097 is a single nucleotide polymorphism located in an intronic region of the CYP19A1 gene on chromosome 15. The CYP19A1 gene encodes aromatase, the enzyme responsible for converting androgens into estrogens. Genome-wide and candidate gene studies have linked rs2414097 to subtle variations in circulating estrogen levels and reproductive traits such as age at natural menopause, although the overall clinical evidence remains limited.
What each genotype means
| Genotype | What the research suggests | Reading |
|---|---|---|
| CC | Carriers of the CC homozygous genotype possess two copies of the C allele at rs2414097. In population cohorts, this common genotype serves as a reference baseline for typical CYP19A1 aromatase expression and standard reproductive lifespan markers. It does not indicate an elevated risk for monogenic hormone disorders. | Informational |
| CT | Carriers of the CT heterozygous genotype carry one copy of the C allele and one copy of the T allele at rs2414097. Observational research links this genotype with modest shifts in circulating estrogen levels and slight statistical variations in age at natural menopause. The overall clinical impact of carrying a single copy is very subtle. | Informational |
| TT | Carriers of the TT homozygous genotype possess two copies of the minor T allele at rs2414097. In published association studies, this genotype has been linked to variations in circulating sex steroid levels and reproductive milestones relative to common homozygotes. However, the evidence remains limited and does not establish medical pathology. | Informational |
Genomic Context and the CYP19A1 Gene
The single nucleotide polymorphism rs2414097 sits within the non-coding intronic region of the CYP19A1 gene, positioned on chromosome 15. According to [MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/cyp19a1/), the CYP19A1 gene provides the biological instructions for synthesizing aromatase, a member of the cytochrome P450 superfamily. Aromatase plays an indispensable biochemical role in steroidogenesis by catalyzing the final, irreversible conversion of androgens—specifically androstenedione and testosterone—into estrogens, including estrone and estradiol. Because rs2414097 is an intronic variant, it does not alter the amino acid sequence of the resulting enzyme directly. Instead, genomic researchers classify it as a putative regulatory variant. Such non-coding variants may influence transcriptional efficiency, alternative splicing, or tissue-specific gene expression, or they may simply serve as genetic proxies that are co-inherited alongside other functional changes within the aromatase gene cluster.
Research Associations with Estrogen and Menopause
Large-scale population studies indexed in the [GWAS Catalog](https://www.ebi.ac.uk/gwas/search?query=rs2414097) have investigated common variation across the CYP19A1 locus to understand endocrine phenotypes and reproductive aging. Research has evaluated rs2414097 in connection with circulating sex hormone concentrations, including serum estradiol and testosterone levels, as well as the timing of reproductive milestones such as age at natural menopause. While severe loss-of-function mutations in CYP19A1 cause rare, monogenic conditions like congenital aromatase deficiency according to [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/1588), common single nucleotide variants like rs2414097 contribute modest, continuous effects across the general population. Carrying specific alleles has been statistically correlated with minor differences in circulating estrogen and slight shifts in the timing of natural menopause. However, scientific evidence supporting a direct causative role for rs2414097 remains limited, as many intronic markers track larger blocks of co-inherited variation across chromosome 15.
Population Distribution and Frequency
The frequency of rs2414097 alleles demonstrates notable geographic and ancestral variation across global cohorts documented in public resources like [dbSNP](https://www.ncbi.nlm.nih.gov/snp/rs2414097). In European populations, the minor allele frequency is typically estimated between 0.15 and 0.25, making heterozygous and homozygous alternate genotypes relatively common. In contrast, allele distributions may fluctuate considerably in African, East Asian, and Indigenous American populations, reflecting evolutionary drift and demographic histories. Because linkage disequilibrium patterns differ significantly between distinct ancestral groups, an association detected between rs2414097 and a hormonal phenotype in individuals of European ancestry may not translate directly to individuals of other backgrounds. Genetic epidemiologists emphasize that multi-ancestry evaluations are essential before applying hormonal genetic risk models globally, as the functional causal variant linked to rs2414097 could vary across ancestral backgrounds.
Clinical Interpretation and Limitations
Interpreting an individual's rs2414097 genotype requires an understanding of complex, polygenic traits. Reproductive timing, circulating hormone concentrations, and menopausal onset are shaped by hundreds of genetic loci working in concert with environmental and lifestyle variables, including nutrition, body composition, smoking status, and overall health. A single intronic marker like rs2414097 cannot predict the specific age at which a woman will enter menopause, nor can it serve as a diagnostic marker for estrogen imbalance or reproductive disorders. Furthermore, although aromatase inhibitors are widely utilized in clinical oncology to suppress estrogen production in hormone-receptor-positive conditions, consumer genetic data for rs2414097 cannot be used to guide prescription drug therapy. Any decisions involving hormone therapy, medication selection, or dosage adjustments must always be made in consultation with a qualified physician or clinical pharmacist.
How common is this variant?
The minor allele frequency for rs2414097 is estimated at approximately 0.15 to 0.25 in European populations, with variable frequencies observed across other global ancestral groups in genomic databases.
Frequently asked questions
Can rs2414097 predict when I will go through menopause?
No, rs2414097 cannot predict your exact age at natural menopause. While studies show small statistical differences in timing across population groups, menopause timing is governed by hundreds of genetic variants alongside lifestyle and health factors.
Does having a variant in CYP19A1 mean I have aromatase deficiency?
No, common polymorphisms such as rs2414097 are regular genetic variations and do not cause aromatase deficiency. Clinical aromatase deficiency is an exceedingly rare condition caused by severe, disruptive mutations in the CYP19A1 coding sequence.
Does my rs2414097 genotype influence how I respond to aromatase inhibitor medications?
There is currently insufficient clinical evidence to alter medication choices or doses based on rs2414097. Any decisions regarding aromatase inhibitors or other hormone-modulating treatments must be directed by your oncologist, physician, or pharmacist.
Where is the rs2414097 variant located in my DNA?
The rs2414097 variant is located on chromosome 15 within an intron of the CYP19A1 gene. Because it sits in a non-coding region, it does not alter the structure of the aromatase protein directly.
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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