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

doi:10.1038/s41467-018-02971-0

GSTDTAP > 资源环境科学

DOI	10.1038/s41467-018-02971-0
	Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits
	Rafnar, Thorunn 1; Gunnarsson, Bjarni 1; Stefansson, Olafur A.1; Sulem, Patrick 1; Ingason, Andres 1; Frigge, Michael L.1; Stefansdottir, Lilja 1; Sigurdsson, Jon K.1; Tragante, Vinicius 1,2; Steinthorsdottir, Valgerdur 1; Styrkarsdottir, Unnur 1; Stacey, Simon N.1; Gudmundsson, Julius 1; Arnadottir, Gudny A.1; Oddsson, Asmundur 1; Zink, Florian 1; Halldorsson, Gisli 1; Sveinbjornsson, Gardar 1; Kristjansson, Ragnar P.1; Davidsson, Olafur B.1; Salvarsdottir, Anna 3; Thoroddsen, Asgeir 3; Helgadottir, Elisabet A.3; Kristjansdottir, Katrin 3; Ingthorsson, Orri 4; Gudmundsson, Valur 4; Geirsson, Reynir T.3,5; Arnadottir, Ragnheidur 3; Gudbjartsson, Daniel F.1,6; Masson, Gisli 1; Asselbergs, Folkert W.2,7,8,9,10; Jonasson, Jon G.5,11; Olafsson, Karl 3; Thorsteinsdottir, Unnur 1,5; Halldorsson, Bjarni V.1,12; Thorleifsson, Gudmar 1; Stefansson, Kari 1,5
	2018-09-07
发表期刊	NATURE COMMUNICATIONS
ISSN	2041-1723
出版年	2018
卷号	9
文章类型	Article
语种	英语
国家	Iceland; Netherlands; England
英文摘要	Uterine leiomyomas are common benign tumors of the myometrium. We performed a metaanalysis 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.
领域	资源环境
收录类别	SCI-E
WOS记录号	WOS:000444014100011
WOS关键词	GENOME-WIDE ASSOCIATION ; CHRONIC LYMPHOCYTIC-LEUKEMIA ; EPITHELIAL OVARIAN-CANCER ; BONE-MINERAL DENSITY ; SUSCEPTIBILITY LOCI ; BREAST-CANCER ; RISK LOCI ; SEQUENCE VARIANTS ; TELOMERE LENGTH ; IDENTIFIES 3
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
URL	查看原文
引用统计
文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/203655
专题	资源环境科学
作者单位	1.deCODE Genet Amgen, Sturlugata 8, IS-101 Reykjavik, Iceland; 2.Univ Utrecht, Univ Med Ctr Utrecht, Div Heart Lungs, Dept Cardiol, NL-3584 CX Utrecht, Netherlands; 3.Landspitali Univ Hosp, Dept Obstet & Gynecol, IS-101 Reykjavik, Iceland; 4.Akureyri Hosp, Dept Obstet & Gynecol, IS-600 Akureyri, Iceland; 5.Univ Iceland, Sch Hlth Sci, Fac Med, IS-101 Reykjavik, Iceland; 6.Univ Iceland, Sch Engn & Nat Sci, IS-101 Reykjavik, Iceland; 7.Netherlands Heart Inst, Durrer Ctr Cardiovasc Res, NL-3501 DG Utrecht, Netherlands; 8.UCL, Inst Cardiovasc Sci, Fac Populat Hlth Sci, London WC1E 6HX, England; 9.UCL, Farr Inst Hlth Informat Res, London NW1 2DA, England; 10.UCL, Inst Hlth Informat, London NW1 2DA, England; 11.Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland; 12.Reykjavik Univ, Sch Sci & Engn, IS-101 Reykjavik, Iceland
推荐引用方式 GB/T 7714	Rafnar, Thorunn,Gunnarsson, Bjarni,Stefansson, Olafur A.,et al. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits[J]. NATURE COMMUNICATIONS,2018,9.
APA	Rafnar, Thorunn.,Gunnarsson, Bjarni.,Stefansson, Olafur A..,Sulem, Patrick.,Ingason, Andres.,...&Stefansson, Kari.(2018).Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.NATURE COMMUNICATIONS,9.
MLA	Rafnar, Thorunn,et al."Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits".NATURE COMMUNICATIONS 9(2018).