WNT4 rs7865618: What Your Genotype Means
rs7865618 is a common non-coding single nucleotide polymorphism located in the regulatory region of the WNT4 gene on chromosome 1. Genome-wide association studies have identified statistical associations between this variant and altered risks for reproductive conditions such as endometriosis and uterine fibroids. However, it is an indirect regulatory marker that confers modest shifts in statistical susceptibility rather than a direct diagnostic cause.
What each genotype means
Typical risk profile
You carry two copies of the C allele, which is the baseline genotype most common across global populations. Genome-wide association studies link this genotype with standard baseline population risk for endometriosis and related gynecological traits. Carrying this genotype does not rule out the development of endometriosis or reproductive conditions, as overall risk depends on many genetic and non-genetic factors.
Carried by approximately 45% to 55% of individuals across European and East Asian ancestries.
Slightly increased risk
You carry one copy of the T minor allele in the WNT4 regulatory region. Large-scale genetic association studies have observed a modest statistical increase in the risk of developing endometriosis and uterine fibroids with each copy of this allele. This finding represents a small shift in relative probability rather than a definitive diagnosis, and most individuals with this variant do not experience severe disease.
Carried by approximately 35% to 45% of people of European and East Asian descent.
Moderately elevated risk
You carry two copies of the T minor allele near the WNT4 gene. In published epidemiological cohorts, carrying two copies is associated with a moderately higher statistical likelihood of endometriosis and related reproductive traits compared to the common CC genotype. Genetic variants only contribute a portion of overall reproductive health risk, so clinical symptoms should always be evaluated independently by a healthcare provider.
Found in roughly 6% to 10% of individuals of European ancestry and approximately 5% to 8% of East Asian populations.
Genetic Location and Nature of rs7865618
The single nucleotide polymorphism rs7865618 represents an intergenic or non-coding regulatory variant mapped near the WNT4 locus on chromosome 1p36. Rather than altering an amino acid sequence directly, non-coding single nucleotide variants typically influence gene regulation, chromatin structure, or transcription factor binding affinities. In this genomic region, rs7865618 serves as a common tag or functional marker evaluated in multiple reproductive health association studies. The major allele is typically A, while the alternative minor allele is G (with studies reporting T and C respectively when referencing the opposite genomic strand). Because it sits within a regulatory landscape, rs7865618 acts as a fine-tuning factor of gene expression rather than a disruptive pathogenic mutation.
Biological Role of the WNT4 Gene
The WNT4 gene encodes a secreted signaling protein that belongs to the evolutionary conserved Wnt family. Wnt signaling pathways are fundamental during embryonic development, driving cell fate specification, tissue morphogenesis, and cell-cell communication. In female human development, WNT4 is essential for the proper formation and differentiation of the Müllerian ducts, the embryonic structures that give rise to the fallopian tubes, uterus, cervix, and upper vaginal canal. Beyond early anatomical development, WNT4 coordinates steroidogenesis in the ovaries and influences endometrial cell decidualization during each menstrual cycle. Variants altering the precise transcriptional timing or dosage of WNT4 can therefore introduce subtle biological variations in how reproductive tissues grow, respond to hormones, and repair.
Research Associations: Endometriosis and Fibroids
Multiple large-scale genome-wide association studies (GWAS) have demonstrated statistically robust links between common variants in the WNT4 locus and gynecological traits, specifically pelvic endometriosis and uterine leiomyomas (fibroids). In these population screens, the minor risk-associated allele has been linked to modest incremental increases in the relative risk of developing endometriosis compared to individuals carrying baseline alleles. Nevertheless, overall evidence strength for rs7865618 specifically causing the condition remains limited because complex traits are polygenic, shaped by dozens of distinct genetic loci alongside environmental and hormonal factors. Furthermore, statistical significance in a population cohort does not mean an individual carrier will inevitably experience clinical symptoms.
Population Frequency and Ancestral Distribution
The alleles of rs7865618 are widespread across global human populations, indicating that this is an ancient, natural genetic variation rather than a rare genetic abnormality. According to large population reference databases such as gnomAD and the 1000 Genomes Project, the minor allele frequency stands at approximately 0.30 in populations of European ancestry and roughly 0.25 in East Asian populations. Frequencies can vary across other ancestral backgrounds, reflecting human demographic history and genetic drift. Because tens of millions of individuals worldwide carry at least one copy of the minor allele without developing reproductive complications, the variant alone is neither necessary nor sufficient to produce clinical disease.
Interpreting Genetic Results Responsibly
Finding your rs7865618 genotype in direct-to-consumer or clinical sequencing results provides informational insight into background genetic variation, but it cannot be used to diagnose any disease. Having one or two copies of the statistical risk allele does not mean you have or will develop endometriosis, uterine fibroids, or anatomical irregularities. Conversely, carrying the baseline genotype provides no guarantee against developing reproductive conditions. Complex gynecological disorders require comprehensive clinical evaluation, including medical history, physical exams, and imaging. Individuals experiencing chronic pelvic pain, dysmenorrhea, or fertility challenges should discuss these symptoms directly with a qualified gynecologist or healthcare provider regardless of their genetic test results.
How common is this variant?
The minor allele of rs7865618 has a frequency of approximately 0.30 in European ancestry cohorts and around 0.25 in East Asian populations, making all three genotypes common across global groups.
Frequently asked questions
Does having the rs7865618 risk allele mean I will get endometriosis?
No. Carrying the risk-associated allele merely indicates a slight increase in statistical probability across large populations, not a certainty. Endometriosis is a complex, multifactorial disorder caused by interactions between many genetic loci, immune responses, and hormonal factors.
Can rs7865618 determine my fertility status?
No, this genetic variant cannot diagnose infertility or predict whether someone can conceive. While the WNT4 gene plays a key role in embryonic reproductive tract development, common regulatory SNPs like rs7865618 only produce subtle background shifts in risk rather than structural reproductive failure.
Why do some scientific papers list this variant with different letters?
Genetic studies sometimes report alleles from the forward DNA strand and other times from the reverse complementary strand. For rs7865618, an A/G call on one strand corresponds to T/C on the opposing strand, though both descriptions refer to the exact same physical genomic position.
What should I do if my genetic report shows the higher-attention GG genotype?
You do not need to take any medical action based solely on this genotype. If you are experiencing symptoms such as severe menstrual pain, irregular bleeding, or chronic pelvic discomfort, share those specific symptoms with a physician or gynecologist for a standard medical assessment.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This regulatory variant in the WNT4 locus is a well-established genetic marker associated with susceptibility to endometriosis, though its effect size and significance vary across ethnic populations.
This variant in the WNT4 locus is significantly associated with the risk of endometriosis and influences reproductive tract development.
Missense mutations in WNT4 are associated with atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and disorders of sex development.
Variant associated with variation in bone mineral density, timing of menarche, and reproductive span traits.
Common regulatory variant near WNT4 consistently associated with endometriosis risk and female reproductive tract morphology.
Regulatory variant near WNT4 associated with risk of endometriosis and ovarian cancer, influencing reproductive hormone regulation.