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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. (author)
Middlebrooks, Candace D. (author)
Banday, A. Rouf (author)
show more...
Ye, Yuanqing (author)
Garcia-Closas, Montserrat (author)
Chatterjee, Nilanjan (author)
Koutros, Stella (author)
Kiemeney, Lambertus A. (author)
Rafnar, Thorunn (author)
Bishop, Timothy (author)
Furberg, Helena (author)
Matullo, Giuseppe (author)
Golka, Klaus (author)
Gago-Dominguez, Manuela (author)
Taylor, Jack A. (author)
Fletcher, Tony (author)
Siddiq, Afshan (author)
Cortessis, Victoria K. (author)
Kooperberg, Charles (author)
Cussenot, Olivier (author)
Benhamou, Simone (author)
Prescott, Jennifer (author)
Porru, Stefano (author)
Dinney, Colin P. (author)
Malats, Nuria (author)
Baris, Dalsu (author)
Purdue, Mark P. (author)
Jacobs, Eric J. (author)
Albanes, Demetrius (author)
Wang, Zhaoming (author)
Chung, Charles C. (author)
Vermeulen, Sita H. (author)
Aben, Katja K. (author)
Galesloot, Tessel E. (author)
Thorleifsson, Gudmar (author)
Sulem, Patrick (author)
Stefansson, Kari (author)
Kiltie, Anne E. (author)
Harland, Mark (author)
Teo, Mark (author)
Offit, Kenneth (author)
Vijai, Joseph (author)
Bajorin, Dean (author)
Kopp, Ryan (author)
Fiorito, Giovanni (author)
Guarrera, Simonetta (author)
Sacerdote, Carlotta (author)
Selinski, Silvia (author)
Hengstler, Jan G. (author)
Gerullis, Holger (author)
Ovsiannikov, Daniel (author)
Blaszkewicz, Meinolf (author)
Esteban Castelao, Jose (author)
Calaza, Manuel (author)
Martinez, Maria Elena (author)
Cordeiro, Patricia (author)
Xu, Zongli (author)
Panduri, Vijayalakshmi (author)
Kumar, Rajiv (author)
Gurzau, Eugene (author)
Koppova, Kvetoslava (author)
Bueno-De-Mesquita, H. Bas (author)
Ljungberg, Börje (author)
Umeå universitet,Urologi och andrologi,Njurcancer
Clavel-Chapelon, Francoise (author)
Weiderpass, Elisabete (author)
Karolinska Institutet
Krogh, Vittorio (author)
Dorronsoro, Miren (author)
Travis, Ruth C. (author)
Tjonneland, Anne (author)
Brennan, Paul (author)
Chang-Claude, Jenny (author)
Riboli, Elio (author)
Conti, David (author)
Stern, Marianna C. (author)
Pike, Malcolm C. (author)
Van den Berg, David (author)
Yuan, Jian-Min (author)
Hohensee, Chancellor (author)
Jeppson, Rebecca P. (author)
Cancel-Tassin, Geraldine (author)
Roupret, Morgan (author)
Comperat, Eva (author)
Turman, Constance (author)
De Vivo, Immaculata (author)
Giovannucci, Edward (author)
Hunter, David J. (author)
Kraft, Peter (author)
Lindstrom, Sara (author)
Carta, Angela (author)
Pavanello, Sofia (author)
Arici, Cecilia (author)
Mastrangelo, Giuseppe (author)
Kamat, Ashish M. (author)
Zhang, Liren (author)
Gong, Yilei (author)
Pu, Xia (author)
Hutchinson, Amy (author)
Burdett, Laurie (author)
Wheeler, William A. (author)
Karagas, Margaret R. (author)
Johnson, Alison (author)
Schned, Alan (author)
Hosain, G. M. Monawar (author)
Schwenn, Molly (author)
Kogevinas, Manolis (author)
Tardon, Adonina (author)
Serra, Consol (author)
Carrato, Alfredo (author)
Garcia-Closas, Reina (author)
Lloreta, Josep (author)
Andriole, Gerald, Jr. (author)
Grubb, Robert, III (author)
Black, Amanda (author)
Diver, W. Ryan (author)
Gapstur, Susan M. (author)
Weinstein, Stephanie (author)
Virtamo, Jarmo (author)
Haiman, Christopher A. (author)
Landi, Maria Teresa (author)
Caporaso, Neil E. (author)
Fraumeni, Joseph F., Jr. (author)
Vineis, Paolo (author)
Wu, Xifeng (author)
Chanock, Stephen J. (author)
Silverman, Debra T. (author)
Prokunina-Olsson, Ludmila (author)
Rothman, Nathaniel (author)
Gong, Yl (author)
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 (creator_code:org_t)
2016-01-04
2016
English.
In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 25:6, s. 1203-1214
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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 (r2 = 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Urology and Nephrology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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Figueroa, Jonine ...
Middlebrooks, Ca ...
Banday, A. Rouf
Ye, Yuanqing
Garcia-Closas, M ...
Chatterjee, Nila ...
show more...
Koutros, Stella
Kiemeney, Lamber ...
Rafnar, Thorunn
Bishop, Timothy
Furberg, Helena
Matullo, Giusepp ...
Golka, Klaus
Gago-Dominguez, ...
Taylor, Jack A.
Fletcher, Tony
Siddiq, Afshan
Cortessis, Victo ...
Kooperberg, Char ...
Cussenot, Olivie ...
Benhamou, Simone
Prescott, Jennif ...
Porru, Stefano
Dinney, Colin P.
Malats, Nuria
Baris, Dalsu
Purdue, Mark P.
Jacobs, Eric J.
Albanes, Demetri ...
Wang, Zhaoming
Chung, Charles C ...
Vermeulen, Sita ...
Aben, Katja K.
Galesloot, Tesse ...
Thorleifsson, Gu ...
Sulem, Patrick
Stefansson, Kari
Kiltie, Anne E.
Harland, Mark
Teo, Mark
Offit, Kenneth
Vijai, Joseph
Bajorin, Dean
Kopp, Ryan
Fiorito, Giovann ...
Guarrera, Simone ...
Sacerdote, Carlo ...
Selinski, Silvia
Hengstler, Jan G ...
Gerullis, Holger
Ovsiannikov, Dan ...
Blaszkewicz, Mei ...
Esteban Castelao ...
Calaza, Manuel
Martinez, Maria ...
Cordeiro, Patric ...
Xu, Zongli
Panduri, Vijayal ...
Kumar, Rajiv
Gurzau, Eugene
Koppova, Kvetosl ...
Bueno-De-Mesquit ...
Ljungberg, Börje
Clavel-Chapelon, ...
Weiderpass, Elis ...
Krogh, Vittorio
Dorronsoro, Mire ...
Travis, Ruth C.
Tjonneland, Anne
Brennan, Paul
Chang-Claude, Je ...
Riboli, Elio
Conti, David
Stern, Marianna ...
Pike, Malcolm C.
Van den Berg, Da ...
Yuan, Jian-Min
Hohensee, Chance ...
Jeppson, Rebecca ...
Cancel-Tassin, G ...
Roupret, Morgan
Comperat, Eva
Turman, Constanc ...
De Vivo, Immacul ...
Giovannucci, Edw ...
Hunter, David J.
Kraft, Peter
Lindstrom, Sara
Carta, Angela
Pavanello, Sofia
Arici, Cecilia
Mastrangelo, Giu ...
Kamat, Ashish M.
Zhang, Liren
Gong, Yilei
Pu, Xia
Hutchinson, Amy
Burdett, Laurie
Wheeler, William ...
Karagas, Margare ...
Johnson, Alison
Schned, Alan
Hosain, G. M. Mo ...
Schwenn, Molly
Kogevinas, Manol ...
Tardon, Adonina
Serra, Consol
Carrato, Alfredo
Garcia-Closas, R ...
Lloreta, Josep
Andriole, Gerald ...
Grubb, Robert, I ...
Black, Amanda
Diver, W. Ryan
Gapstur, Susan M ...
Weinstein, Steph ...
Virtamo, Jarmo
Haiman, Christop ...
Landi, Maria Ter ...
Caporaso, Neil E ...
Fraumeni, Joseph ...
Vineis, Paolo
Wu, Xifeng
Chanock, Stephen ...
Silverman, Debra ...
Prokunina-Olsson ...
Rothman, Nathani ...
Gong, Yl
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About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Urology and Neph ...
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
Articles in the publication
Human Molecular ...
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Umeå University
Karolinska Institutet

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