Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.

2.50
Hdl Handle:
http://hdl.handle.net/2336/85798
Title:
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Authors:
Thorleifsson, Gudmar; Holm, Hilma; Edvardsson, Vidar; Walters, G Bragi; Styrkarsdottir, Unnur; Gudbjartsson, Daniel F; Sulem, Patrick; Halldorsson, Bjarni V; de Vegt, Femmie; d'Ancona, Frank C H; den Heijer, Martin; Franzson, Leifur; Christiansen, Claus; Alexandersen, Peter; Rafnar, Thorunn; Kristjansson, Kristleifur; Sigurdsson, Gunnar; Kiemeney, Lambertus A; Bodvarsson, Magnus; Indridason, Olafur S; Palsson, Runolfur; Kong, Augustine; Thorsteinsdottir, Unnur; Stefansson, Kari
Citation:
Nat. Genet. 2009, 41(8):926-30
Issue Date:
1-Aug-2009
Abstract:
Kidney stone disease is a common condition. To search for sequence variants conferring risk of kidney stones, we conducted a genome-wide association study in 3,773 cases and 42,510 controls from Iceland and The Netherlands. We discovered common, synonymous variants in the CLDN14 gene that associate with kidney stones (OR = 1.25 and P = 4.0 x 10(-12) for rs219780[C]). Approximately 62% of the general population is homozygous for rs219780[C] and is estimated to have 1.64 times greater risk of developing the disease compared to noncarriers. The CLDN14 gene is expressed in the kidney and regulates paracellular permeability at epithelial tight junctions. The same variants were also found to associate with reduced bone mineral density at the hip (P = 0.00039) and spine (P = 0.0077).
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/ng.404

Full metadata record

DC FieldValue Language
dc.contributor.authorThorleifsson, Gudmaren
dc.contributor.authorHolm, Hilmaen
dc.contributor.authorEdvardsson, Vidaren
dc.contributor.authorWalters, G Bragien
dc.contributor.authorStyrkarsdottir, Unnuren
dc.contributor.authorGudbjartsson, Daniel Fen
dc.contributor.authorSulem, Patricken
dc.contributor.authorHalldorsson, Bjarni Ven
dc.contributor.authorde Vegt, Femmieen
dc.contributor.authord'Ancona, Frank C Hen
dc.contributor.authorden Heijer, Martinen
dc.contributor.authorFranzson, Leifuren
dc.contributor.authorChristiansen, Clausen
dc.contributor.authorAlexandersen, Peteren
dc.contributor.authorRafnar, Thorunnen
dc.contributor.authorKristjansson, Kristleifuren
dc.contributor.authorSigurdsson, Gunnaren
dc.contributor.authorKiemeney, Lambertus Aen
dc.contributor.authorBodvarsson, Magnusen
dc.contributor.authorIndridason, Olafur Sen
dc.contributor.authorPalsson, Runolfuren
dc.contributor.authorKong, Augustineen
dc.contributor.authorThorsteinsdottir, Unnuren
dc.contributor.authorStefansson, Karien
dc.date.accessioned2009-11-10T13:59:19Z-
dc.date.available2009-11-10T13:59:19Z-
dc.date.issued2009-08-01-
dc.date.submitted2009-11-10-
dc.identifier.citationNat. Genet. 2009, 41(8):926-30en
dc.identifier.issn1546-1718-
dc.identifier.pmid19561606-
dc.identifier.doi10.1038/ng.404-
dc.identifier.urihttp://hdl.handle.net/2336/85798-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractKidney stone disease is a common condition. To search for sequence variants conferring risk of kidney stones, we conducted a genome-wide association study in 3,773 cases and 42,510 controls from Iceland and The Netherlands. We discovered common, synonymous variants in the CLDN14 gene that associate with kidney stones (OR = 1.25 and P = 4.0 x 10(-12) for rs219780[C]). Approximately 62% of the general population is homozygous for rs219780[C] and is estimated to have 1.64 times greater risk of developing the disease compared to noncarriers. The CLDN14 gene is expressed in the kidney and regulates paracellular permeability at epithelial tight junctions. The same variants were also found to associate with reduced bone mineral density at the hip (P = 0.00039) and spine (P = 0.0077).en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.404en
dc.subject.meshAdulten
dc.subject.meshAgeden
dc.subject.meshAged, 80 and overen
dc.subject.meshBase Sequenceen
dc.subject.meshBone Densityen
dc.subject.meshCalciumen
dc.subject.meshChromosomes, Human, Pair 21en
dc.subject.meshFemaleen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHumansen
dc.subject.meshKidney Calculien
dc.subject.meshMembrane Proteinsen
dc.subject.meshMiddle Ageden
dc.subject.meshMolecular Sequence Dataen
dc.subject.meshMutationen
dc.titleSequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.en
dc.typeArticleen
dc.contributor.departmentDeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. gudmar.thorleifsson@decode.isen
dc.identifier.journalNature geneticsen

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