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.department |
Verkfræðideild (HR) |
dc.contributor.department |
Department of Engineering (RU) |
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) |