WNT4 rs11225895: Understanding Reproductive Genetic Associations
The rs11225895 variant is a single nucleotide polymorphism located within the WNT4 gene locus. It has been identified in genetic studies as a marker associated with the risk of endometriosis and the development of the female reproductive tract.
What each genotype means
Typical risk profile
You carry two copies of the common C allele for this variant in the WNT4 genomic region. In genome-wide association studies, this genotype is considered baseline and is not associated with an increased statistical risk of developing endometriosis or uterine fibroids. Because this condition involves multiple genetic and lifestyle factors, having this genotype does not eliminate the possibility of reproductive health conditions.
Carried by approximately 40% to 45% of individuals of European ancestry and roughly 38% globally according to gnomAD data.
Slightly increased risk
You have one copy of the T risk allele and one copy of the C allele at this locus. Published studies report a modest statistical association between the T allele and an elevated likelihood of endometriosis and uterine fibroids. However, the evidence remains limited and this variant alone contributes only a small fraction of overall reproductive disease risk.
Found in roughly 44% to 47% of individuals in European and global populations.
Moderately increased risk
You carry two copies of the T risk allele for rs11225895 near the WNT4 gene. This genotype is associated in research studies with a modest increase in the relative risk of developing endometriosis and uterine fibroids compared to the baseline CC genotype. These findings represent population-level statistical correlations rather than a definitive diagnosis, as many people with this genotype never develop either condition.
Observed in approximately 11% to 15% of European and global populations.
What is the rs11225895 Variant?
The rs11225895 variant is a single nucleotide polymorphism (SNP), which is a variation at a single position in the DNA sequence. This specific SNP is located within the WNT4 gene region on chromosome 1. In genomics, SNPs like rs11225895 are often studied as part of Genome-Wide Association Studies (GWAS) to determine if specific genetic changes occur more frequently in individuals with a particular condition compared to those without it. Because this variant sits in a region associated with reproductive health, researchers monitor it to understand how subtle differences in our genetic code might influence biological pathways related to the female reproductive system.
The Role of the WNT4 Gene
The WNT4 gene provides the instructions for creating a protein that plays a critical role in the development of the female reproductive system, including the formation of the Müllerian ducts. These ducts are the embryonic structures that eventually develop into the uterus, fallopian tubes, and the upper portion of the vagina. Beyond its role in reproductive anatomy, WNT4 is also involved in kidney development and the regulation of ovarian androgen biosynthesis. Because the protein is essential for the proper organization and differentiation of tissues in the reproductive tract, variations in or near this gene are of significant interest to scientists investigating conditions where these tissues may grow or function abnormally, such as in endometriosis.
Research and Evidence Strength
The evidence linking WNT4 variants to endometriosis is considered limited in terms of clinical predictability, though it is well-supported by statistical associations in research. Multiple GWAS have identified the WNT4 locus as a hotspot for endometriosis susceptibility. While some studies have found significant correlations between specific SNPs in this region and the presence of the disease, the results can vary significantly between different ancestral populations. For instance, a variant that shows a strong association in one ethnic group may not show the same effect in another. It is important to note that these findings represent statistical associations across large groups of people rather than a direct diagnostic tool for any individual. The complexity of endometriosis, which involves both genetic and environmental factors, means that a single SNP cannot determine an individual's health outcome.
Population Frequency
The rs11225895 variant is considered a common genetic variant, meaning it is found at a relatively high frequency across various ancestral populations. Because it is common, it is frequently included in large-scale genetic studies that aim to map the architecture of complex traits. However, the specific frequency of the alleles can differ between populations of European, Asian, and African descent. Researchers use these frequency data to refine their understanding of how genetic risk factors are distributed globally. While the variant is common, its presence does not imply the presence of disease, as the vast majority of individuals carrying these common alleles do not develop the conditions associated with the WNT4 locus.
Interpreting Genetic Information
Understanding your genetic data requires context and caution. Genetic associations identified in research studies are meant to help scientists understand the biological mechanisms of disease, not to provide medical diagnoses for individuals. If you have questions about your reproductive health or concerns regarding endometriosis, it is essential to consult with a qualified healthcare provider or a genetic counselor. They can interpret your personal health history and symptoms in the context of your overall well-being. Never use genetic information to make decisions about medical treatments or lifestyle changes without professional guidance. Genetic research is an evolving field, and while variants like rs11225895 provide valuable insights into human biology, they are only one piece of a much larger, complex puzzle.
How common is this variant?
The rs11225895 variant is a common polymorphism with established signals across multiple ancestral populations, though specific allele frequencies vary by ancestry.
Frequently asked questions
Does having this variant mean I will develop endometriosis?
No. Genetic variants associated with endometriosis represent a statistical increase in risk across large populations, not a guarantee of disease. Most people with this variant do not develop the condition.
Can I use this information to diagnose myself?
No. Genetic information should never be used for self-diagnosis. Endometriosis is a complex condition that requires clinical evaluation by a medical professional.
Why do different studies show different results for WNT4 variants?
Genetic associations can vary due to differences in study design, the ancestral background of the participants, and the influence of environmental factors. This is common in the study of complex, polygenic traits.
Should I talk to my doctor about my genotype?
If you have specific health concerns, you can discuss them with your doctor. However, they will likely focus on your symptoms and medical history rather than a single genetic variant.
Sources & further reading
Educational information only, last refreshed 10/20/2026. 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.
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.
Non-coding regulatory variant in the WNT4 region associated with pelvic endometriosis, uterine fibroid risk, and Müllerian duct development.
Regulatory variant near WNT4 associated with risk of endometriosis and ovarian cancer, influencing reproductive hormone regulation.