Common and rare variants associated with kidney stones and biochemical traits.
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
Edvardsson, Vidar O
Eyjolfsson, Gudmundur I
Gudbjartsson, Daniel F
Indridason, Olafur S
MetadataShow full item record
CitationNat Commun. 2015, 6:7975
AbstractKidney 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.
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 Files. This article is open access.
RightsArchived with thanks to Nature communications
- Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population.
- Authors: Li X, Dang X, Cheng Y, Zhang D, Zhang X, Zou T, Xing J
- Issue date: 2018 Mar
- Genetics of common complex kidney stone disease: insights from genome-wide association studies.
- Authors: Palsson R, Indridason OS, Edvardsson VO, Oddsson A
- Issue date: 2019 Feb
- Familiality of kidney stone disease in Iceland.
- Authors: Edvardsson VO, Palsson R, Indridason OS, Thorvaldsson S, Stefansson K
- Issue date: 2009
- Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
- Authors: Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, de Vegt F, d'Ancona FC, den Heijer M, Wetzels JF, Franzson L, Rafnar T, Kristjansson K, Bjornsdottir US, Eyjolfsson GI, Kiemeney LA, Kong A, Palsson R, Thorsteinsdottir U, Stefansson K
- Issue date: 2010 Jul 29
- Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
- Authors: Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d'Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K
- Issue date: 2009 Aug