The most common benign tumor of the female reproductive tract, and the leading reason for hysterectomy — genetics shows it shares real biological ground with a second, very different-looking condition: endometriosis.
Uterine fibroids — also called uterine leiomyomata — are benign (non-cancerous) growths of the muscular wall of the uterus. They are the most common tumor of the female reproductive tract and the leading cause of hysterectomy, and two genome-wide association studies have mapped part of the genetics behind them.
The first genome-wide study, Cha et al. 2011, tested 1,607 people with clinically diagnosed fibroids against 1,428 without, replicated in a further 3,466 cases and 3,245 controls, and found three genome-wide-significant loci. One of them, near TNRC6B on chromosome 22, is rs12484776 on this page, with an odds ratio around 1.23.
A much larger 2019 study, combining 35,474 people with fibroids and 267,505 without, found 8 new loci and confirmed 21 already known, bringing the total to 29. This page holds 14 of that study's loci.
The 2019 study's most notable finding was not another locus — it was that 4 of the fibroid loci are also associated with endometriosis risk, a condition where tissue similar to the uterine lining grows outside the uterus. The two conditions are diagnosed differently and can look clinically distinct, but a separate analysis of 402,868 women found that a history of endometriosis was associated with at least double the risk of a later uterine fibroid diagnosis. Shared genetic loci plus a real epidemiological association, in the same study, is a stronger case for common biological ground than either finding would be alone.
The same study also looked specifically at heavy menstrual bleeding — one of the most disruptive symptoms fibroids can cause — by comparing 3,409 people with that symptom against 199,171 without it. Three of the 29 fibroid loci, near TERT, FGFR4 and ATM, were specifically associated with heavy bleeding rather than with having fibroids at all. That is a distinction worth having: not every fibroid-associated gene affects the disease the same way, and at least three affect a specific, clinically important symptom rather than fibroid risk in general.
Uterine fibroids are diagnosed by pelvic exam and imaging (ultrasound or MRI), not by genotype. None of the 15 variants on this page are used by any guideline to diagnose fibroids or predict which symptoms a person will have.
The loci and the endometriosis link described above are population-level findings from tens of thousands of people. They point at shared biology worth studying further — they do not diagnose fibroids, predict heavy bleeding, or establish that any one person with endometriosis will develop fibroids.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Uterine Fibroids comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
Uterine fibroids (uterine leiomyomata) are benign growths of the muscular wall of the uterus — the most common tumor of the female reproductive tract, and the leading cause of hysterectomy.
Yes. A 2019 study found 4 fibroid-associated loci also linked to endometriosis risk, and a separate analysis of 402,868 women found a history of endometriosis associated with at least double the risk of a later uterine fibroid diagnosis.
Three of the known fibroid loci, near TERT, FGFR4 and ATM, were specifically associated with heavy menstrual bleeding rather than with having fibroids in general — a distinct finding from the loci that predict fibroid risk itself.
No. Fibroids are diagnosed by pelvic exam and imaging, not genotype. These are population-level findings from tens of thousands of people, not a way to predict an individual case or its symptoms.
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