Evidence map›Paper›PMID 30194396›Full record

SynthesisNature communications2018

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 and 27 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 11 pooled it
8.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

59 citing papers in PubMed, 11 syntheses or guidelines pooled it, 107 citations in OpenAlex.

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  12. Trial
  13. Article
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  15. Article
  16. UTERINE FIBROIDS.Physiological reviews · 2025
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors at 4 institutions in 3 countries.

Thorunn RafnardeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland. thorunn.rafnar@decode.is.ORCID http://orcid.org/0000-0003-0491-7046
Bjarni GunnarssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Olafur A StefanssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Patrick SulemdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Andres IngasondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Michael L FriggedeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Lilja StefansdottirdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Jon K SigurdssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Vinicius TragantedeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Valgerdur SteinthorsdottirdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Unnur StyrkarsdottirdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8146-8278
Simon N StaceydeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Julius GudmundssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Gudny A ArnadottirdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-6571-423X
Asmundur OddssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-4606-5163
Florian ZinkdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Gisli HalldorssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7067-9862
Gardar SveinbjornssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Ragnar P KristjanssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Olafur B DavidssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Anna SalvarsdottirDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Asgeir ThoroddsenDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Elisabet A HelgadottirDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Katrin KristjansdottirDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Orri IngthorssonDepartment of Obstetrics and Gynecology, Akureyri Hospital, 600, Akureyri, Iceland.
Valur GudmundssonDepartment of Obstetrics and Gynecology, Akureyri Hospital, 600, Akureyri, Iceland.
Reynir T GeirssonDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Ragnheidur ArnadottirDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Daniel F GudbjartssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Gisli MassondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Folkert W AsselbergsDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, University of Utrecht, 3584 CX, Utrecht, The Netherlands.
Jon G JonassonFaculty of Medicine, School of Health Sciences, University of Iceland, 101, Reykjavik, Iceland.
Karl OlafssonDepartment of Obstetrics and Gynecology, Landspitali University Hospital, 101, Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Bjarni V HalldorssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0756-0767
Gudmar ThorleifssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
Kari StefanssondeCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland. kstefans@decode.is.
deCODE Genetics (Iceland) · ISReykjavík University · ISAkureyri Hospital · ISUtrecht University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Case-Control StudiesEndometriosisFemaleGenome-Wide Association StudyHumansLeiomyomaUterine NeoplasmsWhite People

Identifiers

PMID30194396
PMCPMC6128903
OpenAlexW2891303621

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.