Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups

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doi:10.1038/s41467-025-57483-5

Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups

Jeewoo Kim & Jacklyn N. Hellwege et al. · 2025-03-06

Abstract

Uterine leiomyomata or fibroids are highly heritable, common, and benign tumors of the uterus with poorly understood etiology. Previous GWAS have reported 72 associated genes but included limited numbers of non-European individuals. Here, we identify 11 novel genes associated with fibroids across multi-ancestry and ancestry-stratified GWAS analyses. We replicate a known fibroid GWAS gene in African ancestry individuals and estimate the SNP-based heritability of fibroids in African ancestry populations as 15.9%. Using genetically predicted gene expression and colocalization analyses, we identify 46 novel genes associated with fibroids. These genes are significantly enriched in cancer, cell death and survival, reproductive system disease, and cellular growth and proliferation networks. We also find that increased predicted expression of HEATR3 in uterine tissue is associated with fibroids across ancestry strata. Overall, we report genetic variants associated with fibroids coupled with functional and gene pathway enrichment analyses.

Links

DOI PubMed

Journal

Nature Communications

Authors

Jeewoo Kim, Ariel Williams, Hannah Noh, Elizabeth A. Jasper, Sarah H. Jones, James A. Jaworski, Megan M. Shuey, Edward A. Ruiz-Narváez, Lauren A. Wise, Julie R. Palmer, John Connolly, Jacob M. Keaton, Joshua C. Denny, Atlas Khan, Mohammad A. Abbass, Laura J. Rasmussen-Torvik, Leah C. Kottyan, Purnima Madhivanan, Karl Krupp, Wei-Qi Wei, Todd L. Edwards, Digna R. Velez Edwards, Jacklyn N. Hellwege

Funding

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

R01HD074711

NHGRI NIH HHS

U01 HG008657

U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

K12AR084232

NHGRI NIH HHS

U01 HG004424

NHGRI NIH HHS

U01 HG008684

NHGRI NIH HHS

U01 HG008679

NHGRI NIH HHS

U01 HG006380

NIGMS NIH HHS

RC2 GM092618

NIGMS NIH HHS

P50 GM115305

NHGRI NIH HHS

U01 HG006379

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

R03HD078567

NICHD NIH HHS

R01 HD057966

NIH HHS

S10 OD017985

NIAMS NIH HHS

K12 AR084232

NHGRI NIH HHS

U01 HG006385

NHGRI NIH HHS

U01 HG008676

NCATS NIH HHS

UL1 TR000445

NHGRI NIH HHS

U01 HG006375

NHGRI NIH HHS

U01 HG004438

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

R01HD093671

NIGMS NIH HHS

R01 GM139891

NCI NIH HHS

U01 CA164974

NCI NIH HHS

R01 CA098663

NHGRI NIH HHS

U01 HG006382

NHLBI NIH HHS

U19 HL065962

NICHD NIH HHS

R03 HD078567

NIDDK NIH HHS

K25 DK128563

NHGRI NIH HHS

U01 HG004603

NCRR NIH HHS

S10 RR025141

NHGRI NIH HHS

U01 HG004609

NHGRI NIH HHS

U01 HG006389

NCATS NIH HHS

TL1 TR002244

NHGRI NIH HHS

U01 HG008672

U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (NCATS)

UL1TR000445

NHGRI NIH HHS

U01 HG004599

NHGRI NIH HHS

U01 HG008666

NICHD NIH HHS

R01 HD074711

NIMHD NIH HHS

U54 MD007593

NICHD NIH HHS

K12 HD043483

NHGRI NIH HHS

U01 HG006388

NHGRI NIH HHS

U01 HG008680

NIH HHS

S10 OD025092

NHGRI NIH HHS

U01 HG006378

NHGRI NIH HHS

U01 HG004610

NCRR NIH HHS

UL1 RR024975

NHGRI NIH HHS

U01 HG008673

NINDS NIH HHS

R01 NS032830

NHGRI NIH HHS

U01 HG004798

NCATS NIH HHS

UL1 TR002243

NHGRI NIH HHS

U01 HG008685

NICHD NIH HHS

R01 HD112169

NHGRI NIH HHS

U01 HG008664

Intramural NIH HHS

ZIA HG200417

NHGRI NIH HHS

U01 HG004608

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)

ZIAHG200417

NHGRI NIH HHS

U01 HG008701

NICHD NIH HHS

R01 HD093671

U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases

K12AR084232

U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences

UL1TR000445

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

ZIAHG200417

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

R01HD074711

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

R03HD078567

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

R01HD093671