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


Authors: Rothman, N.; Garcia-Closas, M.; Chatterjee, N.; Malats, N.; Wu, X. F.; Figueroa, J. D.; Real, F. X.; Van den Berg, D.; Matullo, G.; Baris, D.; Thun, M.; Kiemeney, L. A.; Vineis, P.; De Vivo, I.; Albanes, D.; Purdue, M. P.; Rafnar, T.; Hildebrandt, M. A. T.; Kiltie, A. E.; Cussenot, O.; Golka, K.; Kumar, R.; Taylor, J. A.; Mayordomo, J. I.; Jacobs, K. B.; Kogevinas, M.; Hutchinson, A.; Wang, Z. W.; Fu, Y. P.; Prokunina-Olsson, L.; Burdett, L.; Yeager, M.; Wheeler, W.; Tardon, A.; Serra, C.; Carrato, A.; Garcia-Closas, R.; Lloreta, J.; Johnson, A.; Schwenn, M.; Karagas, M. R.; Schned, A.; Andriole, G.; Grubb, R.; Black, A.; Jacobs, E. J.; Diver, W. R.; Gapstur, S. M.; Weinstein, S. J.; Virtamo, J.; Cortessis, V. K.; Gago-Dominguez, M.; Pike, M. C.; Stern, M. C.; Yuan, J. M.; Hunter, D. J.; Mcgrath, M.; Dinney, C. P.; Czerniak, B.; Chen, M.; Yang, H. S.; Vermeulen, S. H.; Aben, K. K.; Witjes, J. A.; Makkinje, R. R.; Sulem, P.; Besenbacher, S.; Stefansson, K.; Riboli, E.; Brennan, P.; Panico, S.; Navarro, C.; Allen, N. E.; Bueno-de-Mesquita, H. B.; Trichopoulos, D.; Caporaso, N.; Landi, M. T.; Canzian, F.; Ljungberg, B.; Tjonneland, A.; Clavel-Chapelon, F.; Bishop, D. T.; Teo, M. T. W.; Knowles, M. A.; Guarrera, S.; Polidoro, S.; Ricceri, F.; Sacerdote, C.; Allione, A.; Cancel-Tassin, G.; Selinski, S.; Hengstler, J. G.; Dietrich, H.; Fletcher, T.; Rudnai, P.; Gurzau, E.; Koppova, K.; Bolick, S. C. E.; Godfrey, A.; Xu, Z. L.
Article Title: A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
Abstract: 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 x 10(-12)) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 x 10(-11)) on 19q12 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, validated previous candidate associations for the GSTM1 deletion (P = 4 x 10(-11)) and a tag SNP for NAT2 acetylation status (P = 4 x 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.
Keywords: down-regulation; recombination; chromosome 8q24; cell-carcinoma; common variants; pulmonary-fibrosis; hotspots; confers susceptibility; udp-glucuronosyltransferases; telomerase mutations; sequence variant
Journal Title: Nature Genetics
Volume: 42
Issue: 11
ISSN: 1061-4036
Publisher: Nature Publishing Group  
Date Published: 2010-11-01
Start Page: 978
End Page: 984
Language: English
ACCESSION: ISI:000283540500015
DOI: 10.1038/ng.687
PROVIDER: wos
PMCID: PMC3049891
PUBMED: 20972438
Notes: --- - Article - "Source: Wos"
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  1. Malcolm Pike
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