IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v13y2022i1d10.1038_s41467-022-31188-5.html
   My bibliography  Save this article

Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse

Author

Listed:
  • Natàlia Pujol-Gualdo

    (University of Tartu
    University Hospital, University of Oulu)

  • Kristi Läll

    (University of Tartu)

  • Maarja Lepamets

    (University of Tartu)

  • Henna-Riikka Rossi

    (University Hospital, University of Oulu)

  • Riikka K. Arffman

    (University Hospital, University of Oulu)

  • Terhi T. Piltonen

    (University Hospital, University of Oulu)

  • Reedik Mägi

    (University of Tartu)

  • Triin Laisk

    (University of Tartu)

Abstract

Pelvic organ prolapse is a common gynecological condition with limited understanding of its genetic background. In this work, we perform a genome-wide association meta-analysis comprising 28,086 cases and 546,291 controls from European ancestry. We identify 19 novel genome-wide significant loci, highlighting connective tissue, urogenital and cardiometabolic as likely affected systems. Here, we prioritize many genes of potential interest and assess shared genetic and phenotypic links. Additionally, we present the first polygenic risk score, which shows similar predictive ability (Harrell C-statistic (C-stat) 0.583, standard deviation (sd) = 0.007) as five established clinical risk factors combined (number of children, body mass index, ever smoked, constipation and asthma) (C-stat = 0.588, sd = 0.007) and demonstrates a substantial incremental value in combination with these (C-stat = 0.630, sd = 0.007). These findings improve our understanding of genetic factors underlying pelvic organ prolapse and provide a solid start evaluating polygenic risk scores as a potential tool to enhance individual risk prediction.

Suggested Citation

  • Natàlia Pujol-Gualdo & Kristi Läll & Maarja Lepamets & Henna-Riikka Rossi & Riikka K. Arffman & Terhi T. Piltonen & Reedik Mägi & Triin Laisk, 2022. "Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-31188-5
    DOI: 10.1038/s41467-022-31188-5
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-022-31188-5
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-022-31188-5?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. João Fadista & Line Skotte & Juha Karjalainen & Erik Abner & Erik Sørensen & Henrik Ullum & Thomas Werge & Tõnu Esko & Lili Milani & Aarno Palotie & Mark Daly & Mads Melbye & Bjarke Feenstra & Frank G, 2022. "Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    2. Kaido Lepik & Tarmo Annilo & Viktorija Kukuškina & eQTLGen Consortium & Kai Kisand & Zoltán Kutalik & Pärt Peterson & Hedi Peterson, 2017. "C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis," PLOS Computational Biology, Public Library of Science, vol. 13(9), pages 1-20, September.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Ashley Budu-Aggrey & Anna Kilanowski & Maria K. Sobczyk & Suyash S. Shringarpure & Ruth Mitchell & Kadri Reis & Anu Reigo & Reedik Mägi & Mari Nelis & Nao Tanaka & Ben M. Brumpton & Laurent F. Thomas , 2023. "European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-31188-5. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.