Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Stefansson, Olafur A
Halldorsson, Gisli H
Kristjansson, Ragnar P
Frigge, Michael L
Sigurdsson, Jon K
Eggertsson, Hannes P
Halldorsson, Bjarni V
Lund, Sigrun H
Asselbergs, Folkert W
Gudbjartsson, Daniel F
MetadataShow full item record
CitationOlafsdottir T, Thorleifsson G, Sulem P, et al. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank. Commun Biol. 2020;3(1):129. Published 2020 Mar 17. doi:10.1038/s42003-020-0857-9
AbstractPelvic 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.
DescriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download
- Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk.
- Authors: Chen HY, Chung YW, Lin WY, Chen WC, Tsai FJ, Tsai CH
- Issue date: 2008 Aug
- Admixture mapping of pelvic organ prolapse in African Americans from the Women's Health Initiative Hormone Therapy trial.
- Authors: Giri A, Hartmann KE, Aldrich MC, Ward RM, Wu JM, Park AJ, Graff M, Qi L, Nassir R, Wallace RB, O'Sullivan MJ, North KE, Velez Edwards DR, Edwards TL
- Issue date: 2017
- Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
- Authors: Styrkarsdottir U, Lund SH, Thorleifsson G, Zink F, Stefansson OA, Sigurdsson JK, Juliusson K, Bjarnadottir K, Sigurbjornsdottir S, Jonsson S, Norland K, Stefansdottir L, Sigurdsson A, Sveinbjornsson G, Oddsson A, Bjornsdottir G, Gudmundsson RL, Halldorsson GH, Rafnar T, Jonsdottir I, Steingrimsson E, Norddahl GL, Masson G, Sulem P, Jonsson H, Ingvarsson T, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K
- Issue date: 2018 Dec
- Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339.
- Authors: Powell JE, Fung JN, Shakhbazov K, Sapkota Y, Cloonan N, Hemani G, Hillman KM, Kaufmann S, Luong HT, Bowdler L, Painter JN, Holdsworth-Carson SJ, Visscher PM, Dinger ME, Healey M, Nyholt DR, French JD, Edwards SL, Rogers PA, Montgomery GW
- Issue date: 2016 Nov 15
- Association of WNT4 polymorphisms with endometriosis in infertile patients.
- Authors: Mafra F, Catto M, Bianco B, Barbosa CP, Christofolini D
- Issue date: 2015 Sep