Dataset Information

Genome wide association study for Bladder Cancer Risk

ABSTRACT:

This study funded by the National Cancer Institute (NCI) involves conducting a genome-wide association study of common genetic variants to identify markers of susceptibility to bladder cancer.

This bladder GWAS has led to the discovery of three novel regions in the genome associated with bladder cancer risk. Cases were defined as individuals having histologically confirmed primary carcinoma of the urinary bladder, including carcinoma in situ (ICD-0-2 topography codes C67.0-C67.9 or ICD9 codes 188.1-188.9). Scan data were obtained from two case-control studies carried out in Spain and the United States (specifically, those in the Maine and Vermont components of the New England Bladder Cancer Study) and three prospective cohort studies in Finland and the United States (specifically Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study, Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, and The American Cancer Society Cancer Prevention Study II Nutrition Cohort).

We used data from 591,637 single nucleotide polymorphisms 3,532 affected individuals (cases) and 5,119 controls of European descent and replication including 8382 cases and 48275 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 x 10^-12) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 x 10^-11) on maps to CCNE1 and rs11892031 (P = 1 x 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 (Rothman N et al., Nature Genetics, 2010, PMID: 20972438).

PROVIDER: phs000346.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

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

Rothman Nathaniel N Garcia-Closas Montserrat M Chatterjee Nilanjan N Malats Nuria N Wu Xifeng X Figueroa Jonine D JD Real Francisco X FX Van Den Berg David D Matullo Giuseppe G Baris Dalsu D Thun Michael M Kiemeney Lambertus A LA Vineis Paolo P De Vivo Immaculata I Albanes Demetrius D Purdue Mark P MP Rafnar Thorunn T Hildebrandt Michelle A T MA Kiltie Anne E AE Cussenot Olivier O Golka Klaus K Kumar Rajiv R Taylor Jack A JA Mayordomo Jose I JI Jacobs Kevin B KB Kogevinas Manolis M Hutchinson Amy A Wang Zhaoming Z Fu Yi-Ping YP Prokunina-Olsson Ludmila L Burdett Laurie L Yeager Meredith M Wheeler William W Tardón Adonina A Serra Consol C Carrato Alfredo A García-Closas Reina R Lloreta Josep J Johnson Alison A Schwenn Molly M Karagas Margaret R MR Schned Alan A Andriole Gerald G Grubb Robert R Black Amanda A Jacobs Eric J EJ Diver W Ryan WR Gapstur Susan M SM Weinstein Stephanie J SJ Virtamo Jarmo J Cortessis Victoria K VK Gago-Dominguez Manuela M Pike Malcolm C MC Stern Mariana C MC Yuan Jian-Min JM Hunter David J DJ McGrath Monica M Dinney Colin P CP Czerniak Bogdan B Chen Meng M Yang Hushan H Vermeulen Sita H SH Aben Katja K KK Witjes J Alfred JA Makkinje Remco R RR Sulem Patrick P Besenbacher Soren S Stefansson Kari K Riboli Elio E Brennan Paul P Panico Salvatore S Navarro Carmen C Allen Naomi E NE Bueno-de-Mesquita H Bas HB Trichopoulos Dimitrios D Caporaso Neil N Landi Maria Teresa MT Canzian Federico F Ljungberg Borje B Tjonneland Anne A Clavel-Chapelon Francoise F Bishop David T DT Teo Mark T W MT Knowles Margaret A MA Guarrera Simonetta S Polidoro Silvia S Ricceri Fulvio F Sacerdote Carlotta C Allione Alessandra A Cancel-Tassin Geraldine G Selinski Silvia S Hengstler Jan G JG Dietrich Holger H Fletcher Tony T Rudnai Peter P Gurzau Eugen E Koppova Kvetoslava K Bolick Sophia C E SC Godfrey Ashley A Xu Zongli Z Sanz-Velez José I JI D García-Prats María M Sanchez Manuel M Valdivia Gabriel G Porru Stefano S Benhamou Simone S Hoover Robert N RN Fraumeni Joseph F JF Silverman Debra T DT Chanock Stephen J SJ

Nature genetics 20101024 11

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 chromos ...[more]

PMID: 20972438

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Project description:This study funded by the National Cancer Institute (NCI) involves conducting a genome-wide association study of common genetic variants to identify markers of susceptibility to bladder cancer. This bladder GWAS has led to the discovery of three novel regions in the genome associated with bladder cancer risk. Cases were defined as individuals having histologically confirmed primary carcinoma of the urinary bladder, including carcinoma in situ (ICD-0-2 topography codes C67.0-C67.9 or ICD9 codes 188.1-188.9). Scan data were obtained from two case-control studies carried out in Spain and the United States (specifically, those in the Maine and Vermont components of the New England Bladder Cancer Study) and three prospective cohort studies in Finland and the United States (specifically Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study, Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, and The American Cancer Society Cancer Prevention Study II Nutrition Cohort). We used data from 591,637 single nucleotide polymorphisms 3,532 affected individuals (cases) and 5,119 controls of European descent and replication including 8382 cases and 48275 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 x 10-12) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 x 10-11) on maps to CCNE1 and rs11892031 (P = 1 x 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 (Rothman N et al., Nature Genetics, 2010, PMID: <a href="http://www.ncbi.nlm.nih.gov/pubmed/20972438" target="_blank">20972438</a>). Through meta-analysis with the MD Anderson Texas Bladder Cancer Study (TXBCS), we also identified a novel susceptibility locus that mapped to a region of 18q12.3, marked by rs7238033 (P = 8.7 x 10(-9); allelic odds ratio 1.20 with 95% CI: 1.13-1.28) and two highly correlated SNPs, rs10775480/rs10853535 (r(2)= 1.00; P = 8.9 x 10(-9); allelic odds ratio 1.16 with 95% CI: 1.10-1.22) (Garcia-Closas M et al, Human Molecular Genetics, 2011) For NCI-GWAS2, we performed genotyping on cases and controls for the New Hampshire component of the New England Bladder Cancer Study (NEBCS-NH). For the majority of new bladder cancer cases, we genotyped only cases from four case-control studies, the Los Angeles Bladder Cancer Study (LABCS), the French Center for Research on Prostate Diseases (CeRePP), the French Bladder Study (FBCS) and the Brescia Bladder Cancer Study (BBCS). We used existing control data from four cohort studies already genotyped and subjected to rigorous quality control metrics: the European Prospective Investigation Into Cancer and Nutrition Study (EPIC), Womens Health Initiative (WHI), Health Professionals Follow-up Study (HPFS), Nurses Health Study (NHS), which have been a part of Cancer Genetic Markers of Susceptibility (CGEMS). Meta-analysis of NCI-GWAS1, NCI-GWAS2 and a previously reported GWAS TXBCS-GWAS along with taqman replication, identified two new loci: rs10936599 on 3q26.2 (P = 4.53 x 10(-9)) and rs907611 on 11p15.5 (P = 4.11 x 10(-8)). Two notable loci were also identified that approached genome-wide statistical significance: rs6104690 on 20p12.2 (P = 7.13 x 10(-7)) and rs4510656 on 6p22.3 (P = 6.98 X 10(-7)); these require further studies for confirmation (Figueroa J et al, Human Molecular Genetics, 2013).

Dataset Information

Genome wide association study for Bladder Cancer Risk

Publications

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

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