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Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor Háskólinn í Reykjavík
dc.contributor Reykjavik University
dc.contributor.author Ólafsdóttir, Thorhildur
dc.contributor.author Thorleifsson, Gudmar
dc.contributor.author sulem, patrick
dc.contributor.author Stefánsson, Ólafur A.
dc.contributor.author Medek, Helga
dc.contributor.author Olafsson, Karl
dc.contributor.author Ingþórsson, Orri
dc.contributor.author Guðmundsson, Valur
dc.contributor.author Jonsdottir, Ingileif
dc.contributor.author Halldorsson, Gisli
dc.contributor.author Kristjansson, Ragnar
dc.contributor.author Frigge, Michael L.
dc.contributor.author Stefánsdóttir, Lilja
dc.contributor.author Sigurðsson, Jón K.
dc.contributor.author Oddsson, Asmundur
dc.contributor.author Sigurðsson, Ásgeir
dc.contributor.author Eggertsson, Hannes P.
dc.contributor.author Melsted, Páll
dc.contributor.author Halldórsson, Bjarni
dc.contributor.author Lund, Sigrún Helga
dc.contributor.author Styrkarsdottir, Unnur
dc.contributor.author Steinthorsdottir, Valgerdur
dc.contributor.author Gudmundsson, Julius
dc.contributor.author Holm, Hilma
dc.contributor.author Tragante do O, Vinicius
dc.contributor.author Asselbergs, Folkert
dc.contributor.author Thorsteinsdottir, Unnur
dc.contributor.author Gudbjartsson, Daniel
dc.contributor.author Jónsdóttir, Kristín
dc.contributor.author Rafnar, Thorunn
dc.contributor.author Stefansson, Kari
dc.date.accessioned 2021-01-13T13:34:24Z
dc.date.available 2021-01-13T13:34:24Z
dc.date.issued 2020-03-17
dc.identifier.citation Olafsdottir, T., Thorleifsson, G., Sulem, P. et al. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank. Communications Biology 3, 129 (2020). https://doi.org/10.1038/s42003-020-0857-9
dc.identifier.issn 2399-3642
dc.identifier.uri https://hdl.handle.net/20.500.11815/2359
dc.description Publisher's version (útgefin grein)
dc.description.abstract Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland and the UK Biobank, a total of 15,010 cases with hospital-based diagnosis code and 340,734 female controls, and found eight sequence variants at seven loci associating with POP (P < 5 × 10−8); seven common (minor allele frequency >5%) and one with minor allele frequency of 4.87%. Some of the variants associating with POP also associated with traits of similar pathophysiology. Of these, rs3820282, which may alter the estrogen-based regulation of WNT4, also associates with leiomyoma of uterus, gestational duration and endometriosis. Rs3791675 at EFEMP1, a gene involved in connective tissue homeostasis, also associates with hernias and carpal tunnel syndrome. Our results highlight the role of connective tissue metabolism and estrogen exposure in the etiology of POP.
dc.description.sponsorship This research has been conducted using the UK Biobank Resource under Application Number 24898 and 24711. We thank the individuals who participated in the study and whose contribution made this work possible. Folkert Asselbergs is supported by UCL Hospitals NIHR Biomedical Research Centre.
dc.format.extent 129
dc.language.iso en
dc.publisher Springer Science and Business Media LLC
dc.relation.ispartofseries Communications Biology;3(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Genome-wide association
dc.subject Pelvic organ prolapse
dc.subject Uterus
dc.subject Pathophysiology
dc.subject Genes
dc.subject Erfðarannsóknir
dc.subject Leg
dc.subject Grindargliðnun
dc.title Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank
dc.type info:eu-repo/semantics/article
dcterms.license Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.description.version Peer Reviewed
dc.identifier.journal Communications Biology
dc.identifier.doi 10.1038/s42003-020-0857-9
dc.relation.url https://www.nature.com/articles/s42003-020-0857-9
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)
dc.contributor.school Verkfræði- og náttúruvísindasvið (HÍ)
dc.contributor.school School of Engineering and Natural Sciences (UI)
dc.contributor.school Tæknisvið (HR)
dc.contributor.school School of Technology (RU)


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