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dc.contributor.authorRafnar, Thorunn
dc.contributor.authorVermeulen, Sita H
dc.contributor.authorSulem, Patrick
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorAben, Katja K
dc.contributor.authorWitjes, J Alfred
dc.contributor.authorGrotenhuis, Anne J
dc.contributor.authorVerhaegh, Gerald W
dc.contributor.authorHulsbergen-van de Kaa, Christina A
dc.contributor.authorBesenbacher, Soren
dc.contributor.authorGudbjartsson, Daniel
dc.contributor.authorStacey, Simon N
dc.contributor.authorGudmundsson, Julius
dc.contributor.authorJohannsdottir, Hrefna
dc.contributor.authorBjarnason, Hjordis
dc.contributor.authorZanon, Carlo
dc.contributor.authorHelgadottir, Hafdis
dc.contributor.authorJonasson, Jon Gunnlaugur
dc.contributor.authorTryggvadottir, Laufey
dc.contributor.authorJonsson, Eirikur
dc.contributor.authorGeirsson, Gudmundur
dc.contributor.authorNikulasson, Sigfus
dc.contributor.authorPetursdottir, Vigdis
dc.contributor.authorBishop, D Timothy
dc.contributor.authorChung-Sak, Sei
dc.contributor.authorChoudhury, Ananya
dc.contributor.authorElliott, Faye
dc.contributor.authorBarrett, Jennifer H
dc.contributor.authorKnowles, Margaret A
dc.contributor.authorde Verdier, Petra J
dc.contributor.authorRyk, Charlotta
dc.contributor.authorLindblom, Annika
dc.contributor.authorRudnai, Peter
dc.contributor.authorGurzau, Eugene
dc.contributor.authorKoppova, Kvetoslava
dc.contributor.authorVineis, Paolo
dc.contributor.authorPolidoro, Silvia
dc.contributor.authorGuarrera, Simonetta
dc.contributor.authorSacerdote, Carlotta
dc.contributor.authorPanadero, Angeles
dc.contributor.authorSanz-Velez, José I
dc.contributor.authorSanchez, Manuel
dc.contributor.authorValdivia, Gabriel
dc.contributor.authorGarcia-Prats, Maria D
dc.contributor.authorHengstler, Jan G
dc.contributor.authorSelinski, Silvia
dc.contributor.authorGerullis, Holger
dc.contributor.authorOvsiannikov, Daniel
dc.contributor.authorKhezri, Abdolaziz
dc.contributor.authorAminsharifi, Alireza
dc.contributor.authorMalekzadeh, Mahyar
dc.contributor.authorvan den Berg, Leonard H
dc.contributor.authorOphoff, Roel A
dc.contributor.authorVeldink, Jan H
dc.contributor.authorZeegers, Maurice P
dc.contributor.authorKellen, Eliane
dc.contributor.authorFostinelli, Jacopo
dc.contributor.authorAndreoli, Daniele
dc.contributor.authorArici, Cecilia
dc.contributor.authorPorru, Stefano
dc.contributor.authorBuntinx, Frank
dc.contributor.authorGhaderi, Abbas
dc.contributor.authorGolka, Klaus
dc.contributor.authorMayordomo, José I
dc.contributor.authorMatullo, Giuseppe
dc.contributor.authorKumar, Rajiv
dc.contributor.authorSteineck, Gunnar
dc.contributor.authorKiltie, Anne E
dc.contributor.authorKong, Augustine
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorStefansson, Kari
dc.contributor.authorKiemeney, Lambertus A
dc.date.accessioned2012-06-08T11:09:20Zen
dc.date.available2012-06-08T11:09:20Zen
dc.date.issued2011-11-01en
dc.date.submitted2012-06-08en
dc.identifier.citationHum. Mol. Genet. 2011, 20(21):4268-81en_GB
dc.identifier.issn1460-2083en
dc.identifier.pmid21750109en
dc.identifier.doi10.1093/hmg/ddr303en
dc.identifier.urihttp://hdl.handle.net/2336/228054en
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field.en_GB
dc.description.abstractThree genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC.
dc.description.sponsorshipinfo:eu-repo/grantAgreement/EC/FP7/018827 info:eu-repo/grantAgreement/EC/FP7/218071 Radboud University Nijmegen Medical Centre (RUNMC) Prinses Beatrix Fonds VSB Fonds National Institute of Mental Health (NIH/NIMH) MH078075 Cancer Research UK Yorkshire Cancer Research European Union 513943 Compagnia di San Paolo-Human Genetics Foundation (HuGeF) Italian Association for Cancer Research, Italy Piedmont Region Progetti di Ricerca Sanitaria Finalizzata Flemish government Belgian province of Limburg Swedish Cancer Society Swedish Research Council Shiraz Institute for Cancer Research Shiraz, Iran ICR-87-502 Red Tematica de Investigacion Cooperativa en Cancer RD06/0020/1054en_GB
dc.language.isoenen
dc.publisherOxford University Pressen_GB
dc.relationinfo:eu-repo/grantAgreement/EC/FP7/218071en
dc.relationinfo:eu-repo/grantAgreement/EC/FP7/018827en
dc.relation.urlhttp://dx.doi.org/10.1093/hmg/ddr303en_GB
dc.rightsopenAccessen_GB
dc.subject.meshAdulten_GB
dc.subject.meshAgeden_GB
dc.subject.meshAged, 80 and overen_GB
dc.subject.meshChromosomes, Human, Pair 18en_GB
dc.subject.meshDisease Progressionen_GB
dc.subject.meshEuropean Continental Ancestry Groupen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGenetic Locien_GB
dc.subject.meshGenetic Predisposition to Diseaseen_GB
dc.subject.meshGenome-Wide Association Studyen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMembrane Transport Proteinsen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshPolymorphism, Single Nucleotideen_GB
dc.subject.meshReproducibility of Resultsen_GB
dc.subject.meshRisk Factorsen_GB
dc.subject.meshUrinary Bladder Neoplasmsen_GB
dc.subject.meshYoung Adulten_GB
dc.titleEuropean genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.en
dc.typeArticleen
dc.contributor.departmentdeCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland.en_GB
dc.identifier.journalHuman molecular geneticsen_GB
refterms.dateFOA2018-09-12T12:25:38Z
html.description.abstractThree genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC.


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