Genome-wide association analysis identifies 27 novel loci associated with uterine leiomyomata revealing common genetic origins with endometriosis

C. Scott Gallagher, Netta Mäkinen, Holly R. Harris, Outi Uimari, James P. Cook, Nina Shigesi, Nilüfer Rahmioğlu, Teresa Ferreira, Digna Velez-Edwards, Todd L. Edwards, Z. Ruhioglu, Felix R. Day, Christian M. Becker, Ville Karhunen, Hannu Martikainen, Marjo‐Riitta Järvelin, M-R Järvelin, Rita M. Cantor, P. M. Ridker, Kathryn L. Terry, Julie E. Buring, Scott D. Gordon, Sarah E. Medland, Grant W. Montgomery, Dale R. Nyholt, David A. Hinds, Joyce Y. Tung, John R. B. Perry, Penelope A. Lind, Jodie N. Painter, Nicholas G. Martin, Andrew P. Morris, D. I. Chasman, Stacey A. Missmer, Krina T. Zondervan, Cynthia C. Morton
In: bioRxiv · 2018 · doi:10.1101/324905 · W2803479877
preprint OA: green CC0 ⤵ 3 in-corpus citations
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This genome-wide association study identified 27 novel loci for uterine leiomyomata in European populations, revealing shared genetic influences with endometriosis.

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Abstract

Uterine leiomyomata (UL), also known as uterine fibroids, are the most common neoplasms of the reproductive tract and the primary cause for hysterectomy, leading to considerable impact on women’s lives as well as high economic burden 1,2 . Genetic epidemiologic studies indicate that heritable risk factors contribute to UL pathogenesis 3 . Previous genome-wide association studies (GWAS) identified five loci associated with UL at genome-wide significance ( P < 5 × 10 −8 ) 4–6 . We conducted GWAS meta-analysis in 20,406 cases and 223,918 female controls of white European ancestry, identifying 24 genome-wide significant independent loci; 17 replicated in an unrelated cohort of 15,068 additional cases and 43,587 female controls. Aggregation of discovery and replication studies (35,474 cases and 267,505 female controls) revealed six additional significant loci. Interestingly, four of the 17 loci identified and replicated in these analyses have also been associated with risk for endometriosis – another common gynecologic disorder. These findings increase our understanding of the biological mechanisms underlying UL development, and suggest overlapping genetic origins with endometriosis.

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endometriosis

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