Pulse Brain · Growing Health Evidence Index
Peer-reviewed

Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

C. Scott Gallagher, Netta Mäkinen, Holly R. Harris, Nilüfer Rahmioğlu, Outi Uimari, James P. Cook, Nina Shigesi, Teresa Ferreira, Digna Velez-Edwards, Todd L. Edwards, Sally Mortlock, Z. Ruhioglu, Felix R. Day, Christian M. Becker, Ville Karhunen, Hannu Martikainen, Marjo‐Riitta Järvelin, Rita M. Cantor, Paul 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, Michelle Agee, Babak Alipanahi, Adam Auton, Robert K. Bell, Katarzyna Bryc, Sarah L. Elson, Pierre Fontanillas, Nicholas A. Furlotte, Karen E. Huber, Aaron Kleinman, Nadia K. Litterman, Matthew H. McIntyre, Joanna L. Mountain, Elizabeth S. Noblin, Carrie A. M. Northover, Steven J. Pitts, J. Fah Sathirapongsasuti, Olga V. Sazonova, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Vladimir Vacic, Catherine H. Wilson, John R. B. Perry, Penelope A. Lind, Jodie N. Painter, Nicholas G. Martin, Andrew P. Morris, Daniel I. Chasman, Stacey A. Missmer, Krina T. Zondervan, Cynthia C. Morton

Nature Communications · 2019

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Summary

) loci, in addition to confirming 21 previously reported loci, including multiple independent signals at 10 loci. Phenotypic stratification of UL by heavy menstrual bleeding in 3409 cases and 199,171 female controls reveals genome-wide significant associations at three of the 29 UL loci: 5p15.33 (TERT), 5q35.2 (FGFR4) and 11q22.3 (ATM). Four loci identified in the meta-analysis are also associated with endometriosis risk; an epidemiological meta-analysis across 402,868 women suggests at least a doubling of risk for UL diagnosis among those with a history of endometriosis. These findings increase our understanding of genetic contribution and biology underlying UL development, and suggest overlapping genetic origins with endometriosis.

Subject
Other / interdisciplinary
Source type
Peer-reviewed study
System type
Other
DOI
10.1038/s41467-019-12536-4
Catalogue ID
SNmoj1yoxj-9ddpb1
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