A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 st...

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Detalles Bibliográficos
Autores: Rothman, Nathaniel, Real, Francisco X., Serra, Consol, Lloreta, Josep, 1958-, Chanock, Stephen J.
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2010
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/36598
Acceso en línea:http://hdl.handle.net/10230/36598
http://dx.doi.org/10.1038/ng.687
Access Level:acceso abierto
Palabra clave:Bladder cancer
Genome-wide association studies
Psychology
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spelling A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lociRothman, NathanielReal, Francisco X.Serra, ConsolLloreta, Josep, 1958-Chanock, Stephen J.Bladder cancerGenome-wide association studiesPsychologyWe conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis.Nature Research201920192010info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/36598http://dx.doi.org/10.1038/ng.687reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésNature Genetics. 2010;42(11):978-84© Springer Nature Publishing AG. Rothman N, Garcia-Closas M, Chatterjee N, Malats N, Wu X, Figueroa JD et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet. 2010; 42(11):978-84. DOI 10.1038/ng.687 [http://dx.doi.org/10.1038/ng.687]info:eu-repo/semantics/openAccessoai:recercat.cat:10230/365982026-05-29T05:05:01Z
dc.title.none.fl_str_mv A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
title A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
spellingShingle A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
Rothman, Nathaniel
Bladder cancer
Genome-wide association studies
Psychology
title_short A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
title_full A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
title_fullStr A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
title_full_unstemmed A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
title_sort A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
dc.creator.none.fl_str_mv Rothman, Nathaniel
Real, Francisco X.
Serra, Consol
Lloreta, Josep, 1958-
Chanock, Stephen J.
author Rothman, Nathaniel
author_facet Rothman, Nathaniel
Real, Francisco X.
Serra, Consol
Lloreta, Josep, 1958-
Chanock, Stephen J.
author_role author
author2 Real, Francisco X.
Serra, Consol
Lloreta, Josep, 1958-
Chanock, Stephen J.
author2_role author
author
author
author
dc.subject.none.fl_str_mv Bladder cancer
Genome-wide association studies
Psychology
topic Bladder cancer
Genome-wide association studies
Psychology
description We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis.
publishDate 2010
dc.date.none.fl_str_mv 2010
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/36598
http://dx.doi.org/10.1038/ng.687
url http://hdl.handle.net/10230/36598
http://dx.doi.org/10.1038/ng.687
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Nature Genetics. 2010;42(11):978-84
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Nature Research
publisher.none.fl_str_mv Nature Research
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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