A chronic disease affecting roughly 1 in 10 women, whose genetics were mapped in one of the largest studies of its kind — 80 risk regions, and a first look at which existing drugs might be repurposed against it.
Endometriosis is a chronic systemic disease, affecting roughly 10% of women, in which tissue similar to the uterine lining grows outside the uterus. This page holds 7 variants from one of the largest genetic studies of endometriosis to date.
A 2026 genome-wide association study of endometriosis and adenomyosis analyzed ~1.4 million women, including 105,869 endometriosis cases, across multiple ancestries. It found 80 genomic regions associated with endometriosis risk — 37 of them newly reported — including this page's rs17053711 (KCTD9), rs10983311 (ASTN2), rs11652557 (CEP112), rs2967685 (NFILZ), rs12317475 (RERG), rs10090060 (GDAP1), and rs6456259 (near ID4). Five of the 80 regions were also associated with adenomyosis, a related condition.
The study identified putative causal variants for over 50 of its associations, and combined gene-expression, epigenetic and protein data across tissues to link endometriosis risk to cell differentiation, immune and hormonal regulation, tissue remodeling, and inflammation. A drug-repurposing analysis flagged existing treatments — currently used for breast cancer, contraception and preterm birth prevention — as potential candidates worth investigating for endometriosis specifically. The study also found that a person's endometriosis polygenic risk interacted with abdominal pain, anxiety, migraine and nausea, adding genetic weight to endometriosis's known pattern of overlapping symptoms.
Endometriosis is diagnosed by symptoms, imaging and, definitively, surgical visualization — not by genotype. None of the 7 variants on this page are used by any guideline to diagnose endometriosis or select treatment.
The loci described above come from one of the largest endometriosis genetic studies to date, with real mechanistic and drug-repurposing leads behind them. They explain part of who is more genetically susceptible to endometriosis and point toward biological pathways worth targeting — they are not a diagnostic test, and the drug-repurposing candidates named are research leads, not treatment recommendations.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Endometriosis comes down to these specific, well-studied positions — not a diagnosis.
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Endometriosis. MyGeneLog™. https://www.mygenelog.com/conditions/endometriosis
A chronic systemic disease, affecting roughly 10% of women, in which tissue similar to the uterine lining grows outside the uterus.
A 2026 study of ~1.4 million women, including 105,869 endometriosis cases, found 80 associated genomic regions and used multi-omic data to link the disease to immune, hormonal and tissue-remodeling biology -- one of the largest and most detailed endometriosis genetic studies to date.
Possibly. The source study's drug-repurposing analysis flagged treatments currently used for breast cancer, contraception and preterm birth prevention as computational candidates worth investigating -- not yet clinically tested for endometriosis specifically.
No. Endometriosis is diagnosed by symptoms, imaging and surgical visualization. These are population-level genetic findings, not a way to predict an individual case.
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