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DOI | 10.1038/s41467-018-02971-0 |
Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits | |
Rafnar, Thorunn1; Gunnarsson, Bjarni1; Stefansson, Olafur A.1; Sulem, Patrick1; Ingason, Andres1; Frigge, Michael L.1; Stefansdottir, Lilja1; Sigurdsson, Jon K.1; Tragante, Vinicius1,2; Steinthorsdottir, Valgerdur1; Styrkarsdottir, Unnur1; Stacey, Simon N.1; Gudmundsson, Julius1; Arnadottir, Gudny A.1; Oddsson, Asmundur1; Zink, Florian1; Halldorsson, Gisli1; Sveinbjornsson, Gardar1; Kristjansson, Ragnar P.1; Davidsson, Olafur B.1; Salvarsdottir, Anna3; Thoroddsen, Asgeir3; Helgadottir, Elisabet A.3; Kristjansdottir, Katrin3; Ingthorsson, Orri4; Gudmundsson, Valur4; Geirsson, Reynir T.3,5; Arnadottir, Ragnheidur3; Gudbjartsson, Daniel F.1,6; Masson, Gisli1; Asselbergs, Folkert W.2,7,8,9,10; Jonasson, Jon G.5,11; Olafsson, Karl3; Thorsteinsdottir, Unnur1,5; Halldorsson, Bjarni V.1,12; Thorleifsson, Gudmar1; Stefansson, Kari1,5 | |
2018-09-07 | |
发表期刊 | NATURE COMMUNICATIONS
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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). |
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