Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

Thorunn Rafnar (), Bjarni Gunnarsson, Olafur A. Stefansson, Patrick Sulem, Andres Ingason, Michael L. Frigge, Lilja Stefansdottir, Jon K. Sigurdsson, Vinicius Tragante, Valgerdur Steinthorsdottir, Unnur Styrkarsdottir, Simon N. Stacey, Julius Gudmundsson, Gudny A. Arnadottir, Asmundur Oddsson, Florian Zink, Gisli Halldorsson, Gardar Sveinbjornsson, Ragnar P. Kristjansson, Olafur B. Davidsson, Anna Salvarsdottir, Asgeir Thoroddsen, Elisabet A. Helgadottir, Katrin Kristjansdottir, Orri Ingthorsson, Valur Gudmundsson, Reynir T. Geirsson, Ragnheidur Arnadottir, Daniel F. Gudbjartsson, Gisli Masson, Folkert W. Asselbergs, Jon G. Jonasson, Karl Olafsson, Unnur Thorsteinsdottir, Bjarni V. Halldorsson, Gudmar Thorleifsson and Kari Stefansson ()
Additional contact information
Thorunn Rafnar: deCODE Genetics/Amgen
Bjarni Gunnarsson: deCODE Genetics/Amgen
Olafur A. Stefansson: deCODE Genetics/Amgen
Patrick Sulem: deCODE Genetics/Amgen
Andres Ingason: deCODE Genetics/Amgen
Michael L. Frigge: deCODE Genetics/Amgen
Lilja Stefansdottir: deCODE Genetics/Amgen
Jon K. Sigurdsson: deCODE Genetics/Amgen
Vinicius Tragante: deCODE Genetics/Amgen
Valgerdur Steinthorsdottir: deCODE Genetics/Amgen
Unnur Styrkarsdottir: deCODE Genetics/Amgen
Simon N. Stacey: deCODE Genetics/Amgen
Julius Gudmundsson: deCODE Genetics/Amgen
Gudny A. Arnadottir: deCODE Genetics/Amgen
Asmundur Oddsson: deCODE Genetics/Amgen
Florian Zink: deCODE Genetics/Amgen
Gisli Halldorsson: deCODE Genetics/Amgen
Gardar Sveinbjornsson: deCODE Genetics/Amgen
Ragnar P. Kristjansson: deCODE Genetics/Amgen
Olafur B. Davidsson: deCODE Genetics/Amgen
Anna Salvarsdottir: Landspitali University Hospital
Asgeir Thoroddsen: Landspitali University Hospital
Elisabet A. Helgadottir: Landspitali University Hospital
Katrin Kristjansdottir: Landspitali University Hospital
Orri Ingthorsson: Akureyri Hospital
Valur Gudmundsson: Akureyri Hospital
Reynir T. Geirsson: Landspitali University Hospital
Ragnheidur Arnadottir: Landspitali University Hospital
Daniel F. Gudbjartsson: deCODE Genetics/Amgen
Gisli Masson: deCODE Genetics/Amgen
Folkert W. Asselbergs: University of Utrecht
Jon G. Jonasson: University of Iceland
Karl Olafsson: Landspitali University Hospital
Unnur Thorsteinsdottir: deCODE Genetics/Amgen
Bjarni V. Halldorsson: deCODE Genetics/Amgen
Gudmar Thorleifsson: deCODE Genetics/Amgen
Kari Stefansson: deCODE Genetics/Amgen

Nature Communications, 2018, vol. 9, issue 1, 1-9

Abstract: Abstract Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that associate with the disease. Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1). Polygenic score for leiomyoma, computed using UKB data, is significantly correlated with risk of cancer in the Icelandic population. Functional annotation suggests that the non-coding risk variants affect multiple genes, including ESR1. Our results provide insights into the genetic background of leiomyoma that are shared by other benign and malignant tumors and highlight the role of hormones in leiomyoma growth.

Date: 2018
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DOI: 10.1038/s41467-018-05428-6

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