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Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

dc.contributor.authorRafnar, T
dc.contributor.authorSulem, P
dc.contributor.authorThorleifsson, G
dc.contributor.authorVermeulen, S
dc.contributor.authorHelgason, H
dc.contributor.authorSaemundsdottir, J
dc.contributor.authorGudjonsson, S
dc.contributor.authorSigurdsson, A
dc.contributor.authorStacey, S
dc.contributor.authorGudmundsson, J
dc.contributor.authorJohannsdottir, H
dc.contributor.authorAlexiusdottir, K
dc.contributor.authorPetursdottir, V
dc.contributor.authorNikulasson, S
dc.contributor.authorGeirsson, G
dc.contributor.authorJonsson, T
dc.contributor.authorAben, K
dc.contributor.authorGrotenhuis, A J
dc.contributor.authorVerhaegh, G
dc.contributor.authorDudek, A
dc.contributor.authorWitjes, J
dc.contributor.authorvan der Heijden, A
dc.contributor.authorVrieling, A
dc.contributor.authorGalesloot, T
dc.contributor.authorDe Juan, A
dc.contributor.authorPanadero, A
dc.contributor.authorRivera, F
dc.contributor.authorHurst, C
dc.contributor.authorBishop, D
dc.contributor.authorSak, S
dc.contributor.authorChoudhury, Ananya
dc.contributor.authorTeo, M
dc.contributor.authorArici, C
dc.contributor.authorCarta, A
dc.contributor.authorToninelli, E
dc.contributor.authorde Verdier, P
dc.contributor.authorRudnai, P
dc.contributor.authorGurzau, E
dc.contributor.authorKoppova, K
dc.contributor.authorvan der Keur, K
dc.contributor.authorLurkin, I
dc.contributor.authorGoossens, M
dc.contributor.authorKellen, E
dc.contributor.authorGuarrera, S
dc.contributor.authorRusso, A
dc.contributor.authorCritelli, R
dc.contributor.authorSacerdote, C
dc.contributor.authorVineis, P
dc.contributor.authorKrucker, C
dc.contributor.authorZeegers, M
dc.contributor.authorGerullis, H
dc.contributor.authorOvsiannikov, D
dc.contributor.authorVolkert, F
dc.contributor.authorHengstler, J
dc.contributor.authorSelinski, S
dc.contributor.authorMagnusson, O
dc.contributor.authorMasson, G
dc.contributor.authorKong, A
dc.contributor.authorGudbjartsson, D
dc.contributor.authorLindblom, A
dc.contributor.authorZwarthoff, E
dc.contributor.authorPorru, S
dc.contributor.authorGolka, K
dc.contributor.authorBuntinx, F
dc.contributor.authorMatullo, G
dc.contributor.authorKumar, R
dc.contributor.authorMayordomo, J
dc.contributor.authorSteineck, D
dc.contributor.authorKiltie, Anne E
dc.contributor.authorJonsson, E
dc.contributor.authorRadvanyi, F
dc.contributor.authorKnowles, M
dc.contributor.authorThorsteinsdottir, U
dc.contributor.authorKiemeney, L
dc.contributor.authorStefansson, K
dc.date.accessioned2014-07-08T15:03:37Z
dc.date.available2014-07-08T15:03:37Z
dc.date.issued2014-05-26
dc.identifier.citationGenome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. 2014: Hum Mol Geneten
dc.identifier.issn1460-2083
dc.identifier.pmid24861552
dc.identifier.doi10.1093/hmg/ddu264
dc.identifier.urihttp://hdl.handle.net/10541/322635
dc.description.abstractGenome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.
dc.languageENG
dc.language.isoenen
dc.rightsArchived with thanks to Human molecular geneticsen
dc.titleGenome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.en
dc.typeArticleen
dc.contributor.departmentdeCODE Genetics/AMGEN, Reykjavik 101, Icelanden
dc.identifier.journalHuman Molecular Geneticsen
html.description.abstractGenome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.


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