TY - JOUR
TI - 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
AU - Figueroa, Jonine D.
AU - Middlebrooks, Candace D.
AU - Banday, A. Rouf and
AU - Ye, Yuanqing
AU - Garcia-Closas, Montserrat
AU - Chatterjee, Nilanjan and
AU - Koutros, Stella
AU - Kiemeney, Lambertus A.
AU - Rafnar, Thorunn and
AU - Bishop, Timothy
AU - Furberg, Helena
AU - Matullo, Giuseppe
AU - Golka,
AU - Klaus
AU - Gago-Dominguez, Manuela
AU - Taylor, Jack A.
AU - Fletcher, Tony
AU - and Siddiq, Afshan
AU - Cortessis, Victoria K.
AU - Kooperberg, Charles
AU - and Cussenot, Olivier
AU - Benhamou, Simone
AU - Prescott, Jennifer and
AU - Porru, Stefano
AU - Dinney, Colin P.
AU - Malats, Nuria
AU - Baris, Dalsu
AU - and Purdue, Mark P.
AU - Jacobs, Eric J.
AU - Albanes, Demetrius
AU - Wang,
AU - Zhaoming
AU - Chung, Charles C.
AU - Vermeulen, Sita H.
AU - Aben, Katja K.
AU - and Galesloot, Tessel E.
AU - Thorleifsson, Gudmar
AU - Sulem, Patrick and
AU - Stefansson, Kari
AU - Kiltie, Anne E.
AU - Harland, Mark
AU - Teo, Mark and
AU - Offit, Kenneth
AU - Vijai, Joseph
AU - Bajorin, Dean
AU - Kopp, Ryan and
AU - Fiorito, Giovanni
AU - Guarrera, Simonetta
AU - Sacerdote, Carlotta and
AU - Selinski, Silvia
AU - Hengstler, Jan G.
AU - Gerullis, Holger and
AU - Ovsiannikov, Daniel
AU - Blaszkewicz, Meinolf
AU - Esteban Castelao, Jose
AU - and Calaza, Manuel
AU - Martinez, Maria Elena
AU - Cordeiro, Patricia and
AU - Xu, Zongli
AU - Panduri, Vijayalakshmi
AU - Kumar, Rajiv
AU - Gurzau,
AU - Eugene
AU - Koppova, Kvetoslava
AU - Bueno-De-Mesquita, H. Bas and
AU - Ljungberg, Borje
AU - Clavel-Chapelon, Francoise
AU - Weiderpass,
AU - Elisabete
AU - Krogh, Vittorio
AU - Dorronsoro, Miren
AU - Travis, Ruth C.
AU - and Tjonneland, Anne
AU - Brennan, Paul
AU - Chang-Claude, Jenny and
AU - Riboli, Elio
AU - Conti, David
AU - Stern, Marianna C.
AU - Pike, Malcolm
AU - C.
AU - Van den Berg, David
AU - Yuan, Jian-Min
AU - Hohensee, Chancellor
AU - and Jeppson, Rebecca P.
AU - Cancel-Tassin, Geraldine
AU - Roupret, Morgan
AU - and Comperat, Eva
AU - Turman, Constance
AU - De Vivo, Immaculata and
AU - Giovannucci, Edward
AU - Hunter, David J.
AU - Kraft, Peter
AU - Lindstrom,
AU - Sara
AU - Carta, Angela
AU - Pavanello, Sofia
AU - Arici, Cecilia and
AU - Mastrangelo, Giuseppe
AU - Kamat, Ashish M.
AU - Zhang, Liren
AU - Gong,
AU - Yilei
AU - Pu, Xia
AU - Hutchinson, Amy
AU - Burdett, Laurie
AU - Wheeler,
AU - William A.
AU - Karagas, Margaret R.
AU - Johnson, Alison
AU - Schned, Alan
AU - and Hosain, G. M. Monawar
AU - Schwenn, Molly
AU - Kogevinas, Manolis and
AU - Tardon, Adonina
AU - Serra, Consol
AU - Carrato, Alfredo and
AU - Garcia-Closas, Reina
AU - Lloreta, Josep
AU - Andriole, Jr., Gerald and
AU - Grubb, III, Robert
AU - Black, Amanda
AU - Diver, W. Ryan
AU - Gapstur,
AU - Susan M.
AU - Weinstein, Stephanie
AU - Virtamo, Jarmo
AU - Haiman,
AU - Christopher A.
AU - Landi, Maria Teresa
AU - Caporaso, Neil E. and
AU - Fraumeni, Jr., Joseph F.
AU - Vineis, Paolo
AU - Wu, Xifeng
AU - Chanock,
AU - Stephen J.
AU - Silverman, Debra T.
AU - Prokunina-Olsson, Ludmila and
AU - Rothman, Nathaniel
JO - Human Molecular Genetics
PY - 2016
VL - 25
TODO - 6
SP - 1203-1214
PB - Oxford University Press
SN - 0964-6906, 1460-2083
TODO - 10.1093/hmg/ddv492
TODO - null
TODO - 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.
ER -