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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Fältnamn	Indikatorer	Metadata
000		08479naa a2201885 4500
001		oai:DiVA.org:umu-119064
003		SwePub
008		160411s2016 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:133166150
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1190642 URI
024	7	a https://doi.org/10.1093/hmg/ddv4922 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1331661502 URI
040		a (SwePub)umud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Figueroa, Jonine D.4 aut
245	1 0	a 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
264		c 2016-01-04
264	1	b Oxford University Press,c 2016
338		a print2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Urologi och njurmedicin0 (SwePub)302142 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Urology and Nephrology0 (SwePub)302142 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Middlebrooks, Candace D.4 aut
700	1	a Banday, A. Rouf4 aut
700	1	a Ye, Yuanqing4 aut
700	1	a Garcia-Closas, Montserrat4 aut
700	1	a Chatterjee, Nilanjan4 aut
700	1	a Koutros, Stella4 aut
700	1	a Kiemeney, Lambertus A.4 aut
700	1	a Rafnar, Thorunn4 aut
700	1	a Bishop, Timothy4 aut
700	1	a Furberg, Helena4 aut
700	1	a Matullo, Giuseppe4 aut
700	1	a Golka, Klaus4 aut
700	1	a Gago-Dominguez, Manuela4 aut
700	1	a Taylor, Jack A.4 aut
700	1	a Fletcher, Tony4 aut
700	1	a Siddiq, Afshan4 aut
700	1	a Cortessis, Victoria K.4 aut
700	1	a Kooperberg, Charles4 aut
700	1	a Cussenot, Olivier4 aut
700	1	a Benhamou, Simone4 aut
700	1	a Prescott, Jennifer4 aut
700	1	a Porru, Stefano4 aut
700	1	a Dinney, Colin P.4 aut
700	1	a Malats, Nuria4 aut
700	1	a Baris, Dalsu4 aut
700	1	a Purdue, Mark P.4 aut
700	1	a Jacobs, Eric J.4 aut
700	1	a Albanes, Demetrius4 aut
700	1	a Wang, Zhaoming4 aut
700	1	a Chung, Charles C.4 aut
700	1	a Vermeulen, Sita H.4 aut
700	1	a Aben, Katja K.4 aut
700	1	a Galesloot, Tessel E.4 aut
700	1	a Thorleifsson, Gudmar4 aut
700	1	a Sulem, Patrick4 aut
700	1	a Stefansson, Kari4 aut
700	1	a Kiltie, Anne E.4 aut
700	1	a Harland, Mark4 aut
700	1	a Teo, Mark4 aut
700	1	a Offit, Kenneth4 aut
700	1	a Vijai, Joseph4 aut
700	1	a Bajorin, Dean4 aut
700	1	a Kopp, Ryan4 aut
700	1	a Fiorito, Giovanni4 aut
700	1	a Guarrera, Simonetta4 aut
700	1	a Sacerdote, Carlotta4 aut
700	1	a Selinski, Silvia4 aut
700	1	a Hengstler, Jan G.4 aut
700	1	a Gerullis, Holger4 aut
700	1	a Ovsiannikov, Daniel4 aut
700	1	a Blaszkewicz, Meinolf4 aut
700	1	a Esteban Castelao, Jose4 aut
700	1	a Calaza, Manuel4 aut
700	1	a Martinez, Maria Elena4 aut
700	1	a Cordeiro, Patricia4 aut
700	1	a Xu, Zongli4 aut
700	1	a Panduri, Vijayalakshmi4 aut
700	1	a Kumar, Rajiv4 aut
700	1	a Gurzau, Eugene4 aut
700	1	a Koppova, Kvetoslava4 aut
700	1	a Bueno-De-Mesquita, H. Bas4 aut
700	1	a Ljungberg, Börjeu Umeå universitet,Urologi och andrologi,Njurcancer4 aut0 (Swepub:umu)bolj0001
700	1	a Clavel-Chapelon, Francoise4 aut
700	1	a Weiderpass, Elisabeteu Karolinska Institutet4 aut
700	1	a Krogh, Vittorio4 aut
700	1	a Dorronsoro, Miren4 aut
700	1	a Travis, Ruth C.4 aut
700	1	a Tjonneland, Anne4 aut
700	1	a Brennan, Paul4 aut
700	1	a Chang-Claude, Jenny4 aut
700	1	a Riboli, Elio4 aut
700	1	a Conti, David4 aut
700	1	a Stern, Marianna C.4 aut
700	1	a Pike, Malcolm C.4 aut
700	1	a Van den Berg, David4 aut
700	1	a Yuan, Jian-Min4 aut
700	1	a Hohensee, Chancellor4 aut
700	1	a Jeppson, Rebecca P.4 aut
700	1	a Cancel-Tassin, Geraldine4 aut
700	1	a Roupret, Morgan4 aut
700	1	a Comperat, Eva4 aut
700	1	a Turman, Constance4 aut
700	1	a De Vivo, Immaculata4 aut
700	1	a Giovannucci, Edward4 aut
700	1	a Hunter, David J.4 aut
700	1	a Kraft, Peter4 aut
700	1	a Lindstrom, Sara4 aut
700	1	a Carta, Angela4 aut
700	1	a Pavanello, Sofia4 aut
700	1	a Arici, Cecilia4 aut
700	1	a Mastrangelo, Giuseppe4 aut
700	1	a Kamat, Ashish M.4 aut
700	1	a Zhang, Liren4 aut
700	1	a Gong, Yilei4 aut
700	1	a Pu, Xia4 aut
700	1	a Hutchinson, Amy4 aut
700	1	a Burdett, Laurie4 aut
700	1	a Wheeler, William A.4 aut
700	1	a Karagas, Margaret R.4 aut
700	1	a Johnson, Alison4 aut
700	1	a Schned, Alan4 aut
700	1	a Hosain, G. M. Monawar4 aut
700	1	a Schwenn, Molly4 aut
700	1	a Kogevinas, Manolis4 aut
700	1	a Tardon, Adonina4 aut
700	1	a Serra, Consol4 aut
700	1	a Carrato, Alfredo4 aut
700	1	a Garcia-Closas, Reina4 aut
700	1	a Lloreta, Josep4 aut
700	1	a Andriole, Gerald, Jr.4 aut
700	1	a Grubb, Robert, III4 aut
700	1	a Black, Amanda4 aut
700	1	a Diver, W. Ryan4 aut
700	1	a Gapstur, Susan M.4 aut
700	1	a Weinstein, Stephanie4 aut
700	1	a Virtamo, Jarmo4 aut
700	1	a Haiman, Christopher A.4 aut
700	1	a Landi, Maria Teresa4 aut
700	1	a Caporaso, Neil E.4 aut
700	1	a Fraumeni, Joseph F., Jr.4 aut
700	1	a Vineis, Paolo4 aut
700	1	a Wu, Xifeng4 aut
700	1	a Chanock, Stephen J.4 aut
700	1	a Silverman, Debra T.4 aut
700	1	a Prokunina-Olsson, Ludmila4 aut
700	1	a Rothman, Nathaniel4 aut
700	1	a Gong, Yl4 aut
710	2	a Umeå universitetb Urologi och andrologi4 org
773	0	t Human Molecular Geneticsd : Oxford University Pressg 25:6, s. 1203-1214q 25:6<1203-1214x 0964-6906x 1460-2083
856	4	u https://academic.oup.com/hmg/article-pdf/25/6/1203/18527151/ddv492.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-119064
856	4 8	u https://doi.org/10.1093/hmg/ddv492
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:133166150

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Av författaren/redakt...: Figueroa, Jonine ...; Middlebrooks, Ca ...; Banday, A. Rouf; Ye, Yuanqing; Garcia-Closas, M ...; Chatterjee, Nila ...; visa fler...; 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; visa färre...

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