Common and rare variants associated with kidney stones and biochemical traits

Asmundur Oddsson (), Patrick Sulem, Hannes Helgason, Vidar O. Edvardsson, Gudmar Thorleifsson, Gardar Sveinbjörnsson, Eik Haraldsdottir, Gudmundur I. Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Gisli Masson, Hilma Holm, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Olafur S. Indridason, Runolfur Palsson and Kari Stefansson ()
Additional contact information
Asmundur Oddsson: deCODE genetics/Amgen, Inc.
Patrick Sulem: deCODE genetics/Amgen, Inc.
Hannes Helgason: deCODE genetics/Amgen, Inc.
Vidar O. Edvardsson: Children's Medical Center, Landspitali—The National University Hospital of Iceland
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.
Unnur Thorsteinsdottir: deCODE genetics/Amgen, Inc.
Olafur S. Indridason: Internal Medicine Services, Landspitali—The National University Hospital of Iceland
Runolfur Palsson: Faculty of Medicine, University of Iceland
Kari Stefansson: deCODE genetics/Amgen, Inc.

Nature Communications, 2015, vol. 6, issue 1, 1-9

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms8975

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