Sequence variant on 8q24 confers susceptibility to urinary bladder cancer by Kiemeney Lambertus A, Thorlacius Steinunn, Sulem Patrick, Geller Frank, Aben Katja K H, Stacey Simon N, Gudmundsson Julius, Jakobsdottir Margret, Bergthorsson Jon T, Sigurdsson Asgeir, Blondal Thorarinn, Witjes J Alfred, Vermeulen Sita H, Hulsbergen-van de Kaa Christina A, Swinkels Dorine W, Ploeg Martine, Cornel Erik B, Vergunst Henk, Thorgeirsson Thorgeir E, Gudbjartsson Daniel, Gudjonsson Sigurjon A, Thorleifsson Gudmar, Kristinsson Kari T, Mouy Magali, Snorradottir Steinunn, Placidi Donatella, Campagna Marcello, Arici Cecilia, Koppova Kvetoslava, Gurzau Eugene, Rudnai Peter, Kellen Eliane, Polidoro Silvia, Guarrera Simonetta, Sacerdote Carlotta, Sanchez Manuel, Saez Berta, Valdivia Gabriel, Ryk Charlotta, de Verdier Petra, Lindblom Annika, Golka Klaus, Bishop D Timothy, Knowles Margaret A, Nikulasson Sigfus, Petursdottir Vigdis, Jonsson Eirikur, Geirsson Gudmundur, Kristjansson Baldvin, Mayordomo Jose I, Steineck Gunnar, Porru Stefano, Buntinx Frank, Zeegers Maurice P, Fletcher Tony, Kumar Rajiv, Matullo Giuseppe, Vineis Paolo, Kiltie Anne E, Gulcher Jeffrey R, Thorsteinsdottir Unnur, Kong Augustine, Rafnar Thorunn, Stefansson Kari in Nature genetics (2008). PubMed

Abstract

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 x 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 x 10(-7)).

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