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
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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. / Figueroa, Jonine D; Middlebrooks, Candace D; Banday, A Rouf; Ye, Yuanqing; Garcia-Closas, Montserrat; Chatterjee, Nilanjan; Koutros, Stella; Kiemeney, Lambertus A; Rafnar, Thorunn; Bishop, Timothy; Furberg, Helena; Matullo, Giuseppe; Golka, Klaus; Gago-Dominguez, Manuela; Taylor, Jack A; Fletcher, Tony; Siddiq, Afshan; Cortessis, Victoria K; Kooperberg, Charles; Cussenot, Olivier; Benhamou, Simone; Prescott, Jennifer; Porru, Stefano; Dinney, Colin P; Malats, Núria; Baris, Dalsu; Purdue, Mark P; Jacobs, Eric J; Albanes, Demetrius; Wang, Zhaoming; Chung, Charles C; Vermeulen, Sita H; Aben, Katja K; Galesloot, Tessel E; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Kari; Kiltie, Anne E; Harland, Mark; Teo, Mark; Offit, Kenneth; Vijai, Joseph; Bajorin, Dean; Kopp, Ryan; Fiorito, Giovanni; Guarrera, Simonetta; Sacerdote, Carlotta; Selinski, Silvia; Hengstler, Jan G; Gerullis, Holger; Ovsiannikov, Daniel; Blaszkewicz, Meinolf; Castelao, Jose Esteban; Calaza, Manuel; Martinez, Maria Elena; Cordeiro, Patricia; Xu, Zongli; Panduri, Vijayalakshmi; Kumar, Rajiv; Gurzau, Eugene; Koppova, Kvetoslava; Bueno-De-Mesquita, H Bas; Ljungberg, Börje; Clavel-Chapelon, Françoise; Weiderpass, Elisabete; Krogh, Vittorio; Dorronsoro, Miren; Travis, Ruth C; Tjønneland, Anne; Brennan, Paul; Chang-Claude, Jenny; Riboli, Elio; Conti, David; Stern, Marianna C; Pike, Malcolm C; Van Den Berg, David; Yuan, Jian-Min; Hohensee, Chancellor; Jeppson, Rebecca P; Cancel-Tassin, Geraldine; Roupret, Morgan; Comperat, Eva; Turman, Constance; De Vivo, Immaculata; Giovannucci, Edward; Hunter, David J; Kraft, Peter; Lindstrom, Sara; Carta, Angela; Pavanello, Sofia; Arici, Cecilia; Mastrangelo, Giuseppe; Kamat, Ashish M; Zhang, Liren; Gong, Yilei; Pu, Xia; Hutchinson, Amy; Burdett, Laurie; Wheeler, William A; Karagas, Margaret R; Johnson, Alison; Schned, Alan; Monawar Hosain, G M; Schwenn, Molly; Kogevinas, Manolis; Tardón, Adonina; Serra, Consol; Carrato, Alfredo; García-Closas, Reina; Lloreta, Josep; Andriole, Gerald; Grubb, Robert; Black, Amanda; Diver, W Ryan; Gapstur, Susan M; Weinstein, Stephanie; Virtamo, Jarmo; Haiman, Christopher A; Landi, Maria Teresa; Caporaso, Neil E; Fraumeni, Joseph F; Vineis, Paolo; Wu, Xifeng; Chanock, Stephen J; Silverman, Debra T; Prokunina-Olsson, Ludmila; Rothman, Nathaniel.
In: HUM MOL GENET, Vol. 25, No. 6, 15.03.2016, p. 1203-14.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - 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
AU - Ye, Yuanqing
AU - Garcia-Closas, Montserrat
AU - Chatterjee, Nilanjan
AU - Koutros, Stella
AU - Kiemeney, Lambertus A
AU - Rafnar, Thorunn
AU - Bishop, Timothy
AU - Furberg, Helena
AU - Matullo, Giuseppe
AU - Golka, Klaus
AU - Gago-Dominguez, Manuela
AU - Taylor, Jack A
AU - Fletcher, Tony
AU - Siddiq, Afshan
AU - Cortessis, Victoria K
AU - Kooperberg, Charles
AU - Cussenot, Olivier
AU - Benhamou, Simone
AU - Prescott, Jennifer
AU - Porru, Stefano
AU - Dinney, Colin P
AU - Malats, Núria
AU - Baris, Dalsu
AU - Purdue, Mark P
AU - Jacobs, Eric J
AU - Albanes, Demetrius
AU - Wang, Zhaoming
AU - Chung, Charles C
AU - Vermeulen, Sita H
AU - Aben, Katja K
AU - Galesloot, Tessel E
AU - Thorleifsson, Gudmar
AU - Sulem, Patrick
AU - Stefansson, Kari
AU - Kiltie, Anne E
AU - Harland, Mark
AU - Teo, Mark
AU - Offit, Kenneth
AU - Vijai, Joseph
AU - Bajorin, Dean
AU - Kopp, Ryan
AU - Fiorito, Giovanni
AU - Guarrera, Simonetta
AU - Sacerdote, Carlotta
AU - Selinski, Silvia
AU - Hengstler, Jan G
AU - Gerullis, Holger
AU - Ovsiannikov, Daniel
AU - Blaszkewicz, Meinolf
AU - Castelao, Jose Esteban
AU - Calaza, Manuel
AU - Martinez, Maria Elena
AU - Cordeiro, Patricia
AU - Xu, Zongli
AU - Panduri, Vijayalakshmi
AU - Kumar, Rajiv
AU - Gurzau, Eugene
AU - Koppova, Kvetoslava
AU - Bueno-De-Mesquita, H Bas
AU - Ljungberg, Börje
AU - Clavel-Chapelon, Françoise
AU - Weiderpass, Elisabete
AU - Krogh, Vittorio
AU - Dorronsoro, Miren
AU - Travis, Ruth C
AU - Tjønneland, Anne
AU - Brennan, Paul
AU - Chang-Claude, Jenny
AU - Riboli, Elio
AU - Conti, David
AU - Stern, Marianna C
AU - Pike, Malcolm C
AU - Van Den Berg, David
AU - Yuan, Jian-Min
AU - Hohensee, Chancellor
AU - Jeppson, Rebecca P
AU - Cancel-Tassin, Geraldine
AU - Roupret, Morgan
AU - Comperat, Eva
AU - Turman, Constance
AU - De Vivo, Immaculata
AU - Giovannucci, Edward
AU - Hunter, David J
AU - Kraft, Peter
AU - Lindstrom, Sara
AU - Carta, Angela
AU - Pavanello, Sofia
AU - Arici, Cecilia
AU - Mastrangelo, Giuseppe
AU - Kamat, Ashish M
AU - Zhang, Liren
AU - Gong, Yilei
AU - Pu, Xia
AU - Hutchinson, Amy
AU - Burdett, Laurie
AU - Wheeler, William A
AU - Karagas, Margaret R
AU - Johnson, Alison
AU - Schned, Alan
AU - Monawar Hosain, G M
AU - Schwenn, Molly
AU - Kogevinas, Manolis
AU - Tardón, Adonina
AU - Serra, Consol
AU - Carrato, Alfredo
AU - García-Closas, Reina
AU - Lloreta, Josep
AU - Andriole, Gerald
AU - Grubb, Robert
AU - Black, Amanda
AU - Diver, W Ryan
AU - Gapstur, Susan M
AU - Weinstein, Stephanie
AU - Virtamo, Jarmo
AU - Haiman, Christopher A
AU - Landi, Maria Teresa
AU - Caporaso, Neil E
AU - Fraumeni, Joseph F
AU - Vineis, Paolo
AU - Wu, Xifeng
AU - Chanock, Stephen J
AU - Silverman, Debra T
AU - Prokunina-Olsson, Ludmila
AU - Rothman, Nathaniel
N1 - Published by Oxford University Press 2016. This work is written by (a) US Government employee(s) and is in the public domain in the US.
PY - 2016/3/15
Y1 - 2016/3/15
N2 - 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 < 1 × 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 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 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.
AB - 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 < 1 × 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 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 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.
U2 - 10.1093/hmg/ddv492
DO - 10.1093/hmg/ddv492
M3 - SCORING: Journal article
C2 - 26732427
VL - 25
SP - 1203
EP - 1214
JO - HUM MOL GENET
JF - HUM MOL GENET
SN - 0964-6906
IS - 6
ER -