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

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


Title: Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank
Author: Ólafsdóttir, Thorhildur   orcid.org/0000-0003-2003-9984
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
sulem, patrick   orcid.org/0000-0001-7123-6123
Stefánsson, Ólafur A.
Medek, Helga   orcid.org/0000-0002-2926-1832
Olafsson, Karl   orcid.org/0000-0001-6182-6568
Ingþórsson, Orri
Guðmundsson, Valur
Jonsdottir, Ingileif   orcid.org/0000-0001-8339-150X
Halldorsson, Gisli   orcid.org/0000-0001-7067-9862
... 21 more authors Show all authors
Date: 2020-03-17
Language: English
Scope: 129
University/Institute: Háskóli Íslands
University of Iceland
Háskólinn í Reykjavík
Reykjavik University
School: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
School of Engineering and Natural Sciences (UI)
Tæknisvið (HR)
School of Technology (RU)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Communications Biology;3(1)
ISSN: 2399-3642
DOI: 10.1038/s42003-020-0857-9
Subject: Genome-wide association; Pelvic organ prolapse; Uterus; Pathophysiology; Genes; Erfðarannsóknir; Leg; Grindargliðnun
URI: https://hdl.handle.net/20.500.11815/2359

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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

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.

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