A reproductive condition and a mood disorder that look unrelated, but a 2020 study built specifically to test the overlap found a real, significant shared genetic architecture between them -- plus an unexpected link to stomach lining abnormality.
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
Endometriosis (tissue like the uterine lining growing outside the uterus, often painful) and depression often occur together in the same person more than chance alone would predict. This 2020 study set out to test whether that overlap has a genetic basis, rather than assuming it does.
Combining GWAS data for both conditions (17,054 endometriosis cases against 191,858 controls; 170,756 European-ancestry depression cases against 329,443 controls) and a broader meta-analysis of 709,111 people total, the study found a significant positive genetic correlation between the two conditions (rG=0.27, P=8.85×10⁻²⁷) — meaning a meaningful share of the same genetic variation influences risk for both, not just that the two happen to co-occur clinically. The combined analysis found 20 independent genome-wide significant loci in total, 8 of them newly identified.
This page carries seven of those shared loci: rs7358418 (TYR), rs1395455 (near GRIK3), rs6680839 (near COP1), rs12118913 and rs2224873 (two independent signals both near DENND1B), rs6778080 (USP4) and rs9835157 (IP6K1). IP6K1 is a direct match to one of the study's named enriched pathways — inositol phosphate metabolism — among several biological pathways the shared loci pointed toward.
The study's most striking secondary finding is in its own title: Mendelian randomization analysis found evidence that depression has a causal effect on endometriosis risk — not just a correlation running in an unspecified direction — and separately implicated a causal link between both conditions and gastric mucosa abnormality, an unexpected third connection this page does not have variants for.
2026-04-29 · Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations. Nature Genetics. 2026. PMID:42056605
Endometriosis affects roughly 1 in 10 women, but its genetic basis has been poorly understood. This study analyzed roughly 1.4 million women, including 105,869 endometriosis cases across multiple ancestries (European, East Asian, African, Admixed American and Central/South Asian or Middle Eastern), and found 80 genomic regions associated with endometriosis risk -- 37 of them newly reported -- with putative causal variants identified for over 50 of these associations. Five loci were also associated with adenomyosis specifically. Integrating transcriptomic, epigenetic and proteomic data across tissues, the study linked endometriosis risk to cell differentiation, immune and hormonal regulation, tissue remodeling and inflammation pathways. A drug-repurposing analysis flagged existing medications used for breast cancer, contraception and preterm-birth prevention as potential candidates worth investigating for endometriosis specifically -- a concrete, near-term translational angle rather than only a discovery paper. The study also found that endometriosis polygenic risk interacts with abdominal pain, anxiety, migraine and nausea, adding genetic weight to symptoms often reported alongside the condition. This site does not yet have a standalone endometriosis condition page -- its closest existing coverage is the endometriosis-depression-shared-genetics page, built from a smaller, earlier study focused specifically on the depression overlap. This much larger, dedicated study is recorded there for now; the individual lead variants from GWAS Catalog (accession GCST90841381 and related sub-analyses) did not come with author-reported gene names in the association records available at the time of writing, so no new variant pages were added. A dedicated endometriosis condition page built from this study's loci would be a strong candidate for future work.
Endometriosis is diagnosed by laparoscopy or imaging, and depression by clinical assessment — not by genotype. None of the seven variants on this page are used by any guideline to diagnose either condition or decide treatment in an individual.
This finding is about shared underlying biology across a population, not an individual risk calculator, and it does not change how either condition is diagnosed or treated in practice. What it does support, clinically, is being alert to depression in people with endometriosis and vice versa, given the genetic evidence that the co-occurrence is not coincidental — though that clinical judgment is made by a doctor observing an individual patient, not by any of the variants on this page.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Endometriosis and Depression: Shared Genetics comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 11 of 24 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Endometriosis and Depression: Shared Genetics. MyGeneLog™. https://www.mygenelog.com/conditions/endometriosis-depression-shared-genetics
Yes, according to a 2020 study built specifically to test this: it found a significant positive genetic correlation between the two conditions (rG=0.27), meaning a real share of the same genetic variation affects risk for both, not just that they happen to co-occur clinically.
Combining both conditions' GWAS data with a broader meta-analysis of 709,111 people, it found 20 independent genome-wide significant loci (8 new), and used Mendelian randomization to find evidence that depression has a causal effect on endometriosis risk.
Each was independently genome-wide significant in this study's combined analysis. One, IP6K1, directly matches the paper's named inositol phosphate metabolism pathway finding.
No. Endometriosis is diagnosed by laparoscopy or imaging and depression by clinical assessment. This page describes population-level shared genetic architecture, not an individual diagnostic test.
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