@article{3169519,
    title = "Identification of a novel susceptibility locus at 13q34 and refinement
of the 20p12.2 region as a multi-signal locus associated with bladder
cancer risk in individuals of European ancestry",
    author = "Figueroa, Jonine D. and Middlebrooks, Candace D. and Banday, A. Rouf and and Ye, Yuanqing and Garcia-Closas, Montserrat and Chatterjee, Nilanjan and and Koutros, Stella and Kiemeney, Lambertus A. and Rafnar, Thorunn and and Bishop, Timothy and Furberg, Helena and Matullo, Giuseppe and Golka, and Klaus and Gago-Dominguez, Manuela and Taylor, Jack A. and Fletcher, Tony and and Siddiq, Afshan and Cortessis, Victoria K. and Kooperberg, Charles and and Cussenot, Olivier and Benhamou, Simone and Prescott, Jennifer and and Porru, Stefano and Dinney, Colin P. and Malats, Nuria and Baris, Dalsu and and Purdue, Mark P. and Jacobs, Eric J. and Albanes, Demetrius and Wang, and Zhaoming and Chung, Charles C. and Vermeulen, Sita H. and Aben, Katja K. and and Galesloot, Tessel E. and Thorleifsson, Gudmar and Sulem, Patrick and and Stefansson, Kari and Kiltie, Anne E. and Harland, Mark and Teo, Mark and and Offit, Kenneth and Vijai, Joseph and Bajorin, Dean and Kopp, Ryan and and Fiorito, Giovanni and Guarrera, Simonetta and Sacerdote, Carlotta and and Selinski, Silvia and Hengstler, Jan G. and Gerullis, Holger and and Ovsiannikov, Daniel and Blaszkewicz, Meinolf and Esteban Castelao, Jose and and Calaza, Manuel and Martinez, Maria Elena and Cordeiro, Patricia and and Xu, Zongli and Panduri, Vijayalakshmi and Kumar, Rajiv and Gurzau, and Eugene and Koppova, Kvetoslava and Bueno-De-Mesquita, H. Bas and and Ljungberg, Borje and Clavel-Chapelon, Francoise and Weiderpass, and Elisabete and Krogh, Vittorio and Dorronsoro, Miren and Travis, Ruth C. and and Tjonneland, Anne and Brennan, Paul and Chang-Claude, Jenny and and Riboli, Elio and Conti, David and Stern, Marianna C. and Pike, Malcolm and C. and Van den Berg, David and Yuan, Jian-Min and Hohensee, Chancellor and and Jeppson, Rebecca P. and Cancel-Tassin, Geraldine and Roupret, Morgan and and Comperat, Eva and Turman, Constance and De Vivo, Immaculata and and Giovannucci, Edward and Hunter, David J. and Kraft, Peter and Lindstrom, and Sara and Carta, Angela and Pavanello, Sofia and Arici, Cecilia and and Mastrangelo, Giuseppe and Kamat, Ashish M. and Zhang, Liren and Gong, and Yilei and Pu, Xia and Hutchinson, Amy and Burdett, Laurie and Wheeler, and William A. and Karagas, Margaret R. and Johnson, Alison and Schned, Alan and and Hosain, G. M. Monawar and Schwenn, Molly and Kogevinas, Manolis and and Tardon, Adonina and Serra, Consol and Carrato, Alfredo and and Garcia-Closas, Reina and Lloreta, Josep and Andriole, Jr., Gerald and and Grubb, III, Robert and Black, Amanda and Diver, W. Ryan and Gapstur, and Susan M. and Weinstein, Stephanie and Virtamo, Jarmo and Haiman, and Christopher A. and Landi, Maria Teresa and Caporaso, Neil E. and and Fraumeni, Jr., Joseph F. and Vineis, Paolo and Wu, Xifeng and Chanock, and Stephen J. and Silverman, Debra T. and Prokunina-Olsson, Ludmila and and Rothman, Nathaniel",
    journal = "Human Molecular Genetics",
    year = "2016",
    volume = "25",
    number = "6",
    pages = "1203-1214",
    publisher = "Oxford University Press",
    issn = "0964-6906, 1460-2083",
    doi = "10.1093/hmg/ddv492",
    abstract = "Candidate gene and genome-wide association studies (GWAS) have
identified 15 independent genomic regions associated with bladder cancer
risk. In search for additional susceptibility variants, we followed up
on four promising single-nucleotide polymorphisms (SNPs) that had not
achieved genome-wide significance in 6911 cases and 11 814 controls
(rs6104690, rs4510656, rs5003154 and rs4907479, P < 1x 10(-6)), using
additional data from existing GWAS datasets and targeted genotyping for
studies that did not have GWAS data. In a combined analysis, which
included data on up to 15 058 cases and 286 270 controls, two SNPs
achieved genome-wide statistical significance: rs6104690 in a gene
desert at 20p12.2 (P = 2.19 x 10(-11)) and rs4907479 within the MCF2L
gene at 13q34 (P = 3.3 x 10(-10)). Imputation and fine-mapping analyses
were performed in these two regions for a subset of 5551 bladder cancer
cases and 10 242 controls. Analyses at the 13q34 region suggest a single
signal marked by rs4907479. In contrast, we detected two signals in the
20p12.2 region-the first signal is marked by rs6104690, and the second
signal is marked by two moderately correlated SNPs (r(2) = 0.53),
rs6108803 and the previously reported rs62185668. The second 20p12.2
signal is more strongly associated with the risk of muscle-invasive
(T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder
cancer (case-case P <= 0.02 for both rs62185668 and rs6108803).
Functional analyses are needed to explore the biological mechanisms
underlying these novel genetic associations with risk for bladder
cancer."
}