IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v6y2015i1d10.1038_ncomms8975.html
   My bibliography  Save this article

Common and rare variants associated with kidney stones and biochemical traits

Author

Listed:
  • Asmundur Oddsson

    (deCODE genetics/Amgen, Inc.)

  • Patrick Sulem

    (deCODE genetics/Amgen, Inc.)

  • Hannes Helgason

    (deCODE genetics/Amgen, Inc.
    School of Engineering and Natural Sciences, University of Iceland)

  • Vidar O. Edvardsson

    (Children's Medical Center, Landspitali—The National University Hospital of Iceland
    Faculty of Medicine, University of Iceland
    The Rare Kidney Stone Consortium, Mayo Clinic)

  • Gudmar Thorleifsson

    (deCODE genetics/Amgen, Inc.)

  • Gardar Sveinbjörnsson

    (deCODE genetics/Amgen, Inc.)

  • Eik Haraldsdottir

    (deCODE genetics/Amgen, Inc.)

  • Gudmundur I. Eyjolfsson

    (Icelandic Medical Center (Laeknasetrid), Laboratory in Mjodd (RAM))

  • Olof Sigurdardottir

    (Akureyri Hospital)

  • Isleifur Olafsson

    (Landspitali University Hospital)

  • Gisli Masson

    (deCODE genetics/Amgen, Inc.)

  • Hilma Holm

    (deCODE genetics/Amgen, Inc.)

  • Daniel F. Gudbjartsson

    (deCODE genetics/Amgen, Inc.
    School of Engineering and Natural Sciences, University of Iceland)

  • Unnur Thorsteinsdottir

    (deCODE genetics/Amgen, Inc.
    Faculty of Medicine, University of Iceland)

  • Olafur S. Indridason

    (Internal Medicine Services, Landspitali—The National University Hospital of Iceland)

  • Runolfur Palsson

    (Faculty of Medicine, University of Iceland
    The Rare Kidney Stone Consortium, Mayo Clinic
    Internal Medicine Services, Landspitali—The National University Hospital of Iceland)

  • Kari Stefansson

    (deCODE genetics/Amgen, Inc.
    Faculty of Medicine, University of Iceland)

Abstract

Kidney stone disease is a complex disorder with a strong genetic component. We conducted a genome-wide association study of 28.3 million sequence variants detected through whole-genome sequencing of 2,636 Icelanders that were imputed into 5,419 kidney stone cases, including 2,172 cases with a history of recurrent kidney stones, and 279,870 controls. We identify sequence variants associating with kidney stones at ALPL (rs1256328[T], odds ratio (OR)=1.21, P=5.8 × 10−10) and a suggestive association at CASR (rs7627468[A], OR=1.16, P=2.0 × 10−8). Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 × 10−5) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 × 10−5) associating with recurrent kidney stones. We also observe associations of the identified kidney stone variants with biochemical traits in a large population set, indicating potential biological mechanism.

Suggested Citation

  • Asmundur Oddsson & Patrick Sulem & Hannes Helgason & Vidar O. Edvardsson & Gudmar Thorleifsson & Gardar Sveinbjörnsson & Eik Haraldsdottir & Gudmundur I. Eyjolfsson & Olof Sigurdardottir & Isleifur Ol, 2015. "Common and rare variants associated with kidney stones and biochemical traits," Nature Communications, Nature, vol. 6(1), pages 1-9, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8975
    DOI: 10.1038/ncomms8975
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/ncomms8975
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/ncomms8975?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
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Bo-Hyun Lee & José J. Jesús Pérez & Vera Moiseenkova-Bell & Tibor Rohacs, 2023. "Structural basis of the activation of TRPV5 channels by long-chain acyl-Coenzyme-A," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    2. Xingjie Hao & Zhonghe Shao & Ning Zhang & Minghui Jiang & Xi Cao & Si Li & Yunlong Guan & Chaolong Wang, 2023. "Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture," Nature Communications, Nature, vol. 14(1), pages 1-12, 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:6:y:2015:i:1:d:10.1038_ncomms8975. 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.

    We have no bibliographic references for this item. You can help adding them by using 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.