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Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

2008; Nature Portfolio; Volume: 40; Issue: 11 Linguagem: Inglês

10.1038/ng.229

1546-1718

Lambertus A. Kiemeney, Steinunn Thorlacius, Patrick Sulem, Frank Geller, Katja K.H. Aben, Simon Stacey, Jūlı́us Guðmundsson, Margret Jakobsdottir, Jón Þór Bergþorsson, Ásgeir Sigurðsson, Thórarinn Blöndal, J. Alfred Witjes, Sita H. Vermeulen, Christina A. Hulsbergen‐van de Kaa, Dorine W. Swinkels, Martine Ploeg, Erik B. Cornel, H. Vergunst, Thorgeir E. Thorgeirsson, Daníel F. Guðbjartsson, Sigurjón A. Guðjónsson, Guðmar Þorleifsson, Kári Kristinsson, Magali Mouy, Steinunn Snorradóttir, Donatella Placidi, Marcello Campagna, Cecilia Arici, Kvetoslava Koppová, Eugen Gurzău, Péter Rudnai, Eliane Kellen, Silvia Polidoro, Simonetta Guarrera, Carlotta Sacerdote, Manuel Sanchez, Berta Sáez, Gabriel Valdivia, Charlotta Ryk, Petra de Verdier, Annika Lindblom, Klaus Golka, D. Timothy Bishop, Margaret A. Knowles, Sigfús Nikulásson, Vigdís Pétursdóttir, Eiríkur Jónsson, Guðmundur Geirsson, Baldvin Kristjánsson, José Mayordomo, Gunnar Steineck, Stefano Porru, Frank Buntinx, Maurice P. Zeegers, Tony Fletcher, Rajiv Kumar, Giuseppe Matullo, Paolo Vineis, Anne E. Kiltie, Jeffrey R. Gulcher, Unnur Þorsteinsdóttir, Augustine Kong, Þórunn Rafnar, Kāri Stefánsson,

Genetic factors in colorectal cancer

Kari Stefansson and colleagues report results of a genome-wide association study for urinary bladder cancer. The strongest association was with a variant on 8q24, located 30 kb upstream of MYC in a haplotype block distinct from previously reported 8q24 cancer risk variants. We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 × 10−12). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 × 10−7).