Common and rare variants associated with kidney stones and biochemical traits.
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Authors
Oddsson, AsmundurSulem, Patrick
Helgason, Hannes
Edvardsson, Vidar O
Thorleifsson, Gudmar
Sveinbjörnsson, Gardar
Haraldsdottir, Eik
Eyjolfsson, Gudmundur I
Sigurdardottir, Olof
Olafsson, Isleifur
Masson, Gisli
Holm, Hilma
Gudbjartsson, Daniel F
Thorsteinsdottir, Unnur
Indridason, Olafur S
Palsson, Runolfur
Stefansson, Kari
Issue Date
2015
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Nat Commun. 2015, 6:7975Abstract
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.Description
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557269/Rights
Archived with thanks to Nature communicationsae974a485f413a2113503eed53cd6c53
10.1038/ncomms8975
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