Uterine and cervical polyps had never had a genome-wide study until 2025 — the first one, in nearly 37,000 women, found 16 risk loci and a genetic overlap with endometrial cancer and fibroids.
Female genital tract polyps — growths of the uterine lining or cervix, coded N84 in ICD-10 — are common, and surgery is the only treatment available once one is diagnosed. Until 2025 their genetics had only been approached through small candidate-gene studies of oestrogen stimulation and inflammation; the actual mechanism of how a polyp develops stayed elusive.
A 2025 meta-analysis in Human Reproduction ran the first genome-wide association study of female genital tract polyps: 36,984 women with polyps and 420,993 female controls of European ancestry, combining FinnGen (11,092 cases), the Estonian Biobank (14,008) and Pan-UKBB (11,884). It found 16 genome-wide-significant risk loci. Five of them are catalogued here: rs13069734 (ZBTB38), rs16860234 (IGF2BP2), rs72765685 (near RGS3), rs79342925 (STN1) and rs9324897 (ARHGAP26).
From exonic variants inside its signals, the study prioritised a different set of genes — EEFSEC, ODF3, PRIM1, PLCE1, LRRC34/MYNN, EXO1 and CHEK2 — all involved in DNA repair, cell proliferation and cell growth. None of the five loci on this page is one of those seven; they are part of the same 16-locus result, not the paper's headline genes.
Several of the loci had previously been linked to endometrial cancer and/or uterine fibroids, which the authors read as shared mechanisms between tissue overgrowth and cancerous processes. Genetic correlation was positive with body mass index and with reproductive traits that act as symptoms or risk factors of endometrial polyps, and negative with menopause (rg = −0.29) and with sex hormone-binding globulin (rg = −0.22). At the level of diagnoses, the strongest associations were with endometriosis, uterine fibroids, and excessive, frequent and irregular menstruation.
Polyps are found by ultrasound, hysteroscopy or biopsy, not by genotype. These five variants are risk-locus findings from one large study, not a screening test, and the study's authors note that surgery remains the only treatment for a diagnosed polyp.
The study did not separate polyp subtypes; it assumed, from prevalence, that most women included had endometrial polyps. Its own suggested next step is expression profiling of polyp tissue to substantiate the functional importance of the identified variants.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Female Genital Tract Polyps comes down to these specific, well-studied positions — not a diagnosis.
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Female Genital Tract Polyps. MyGeneLog™. https://www.mygenelog.com/conditions/female-genital-tract-polyps
Growths of the uterine lining (endometrial polyps) or cervix, coded N84 in ICD-10. They are common, and once diagnosed the only available treatment is surgical removal.
Partly. The first genome-wide study of them (2025, nearly 37,000 women) found 16 risk loci, in genes involved in DNA repair, cell proliferation and cell growth — several of them shared with endometrial cancer and uterine fibroids.
The 2025 study found that several polyp risk loci had previously been linked to endometrial cancer and/or uterine fibroids, and read this as shared mechanisms of tissue overgrowth — an overlap in genetic risk, not a statement that a polyp becomes a cancer.
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