Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

T Rafnar; P Sulem; G Thorleifsson; SH Vermeulen; H Helgason; J Saemundsdottir; SA Gudjonsson; A Sigurdsson; SN Stacey; J Gudmundsson; H Johannsdottir; K Alexiusdottir; V Petursdottir; S Nikulasson; G Geirsson; T Jonsson; KK Aben; AJ Grotenhuis; GW Verhaegh; AM Dudek; JA Witjes; der Heijden AG van; A Vrieling; TE Galesloot; Juan A De; A Panadero; F Rivera; C Hurst; DT Bishop; SC Sak; A Choudhury; MT Teo; C Arici; A Carta; E Toninelli; Verdier P de; P Rudnai; E Gurzau; K Koppova; der Keur KA van; I Lurkin; M Goossens; E Kellen; GUARRERA Simonetta; ALESSIA RUSSO; ROSSANA CRITELLI; Carlotta SACERDOTE; VINEIS Paolo; C Krucker; MP Zeegers; H Gerullis; D Ovsiannikov; F Volkert; JG Hengstler; S Selinski; OT Magnusson; G Masson; A Kong; D Gudbjartsson; A Lindblom; E Zwarthoff; S Porru; K Golka; F Buntinx; MATULLO Giuseppe; R Kumar; JI Mayordomo; DG Steineck; AE Kiltie; E Jonsson; F Radvanyi; MA Knowles; U Thorsteinsdottir; LA Kiemeney; K. Stefansson

doi:10.1093/hmg/ddu264

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

T Rafnar, P Sulem, G Thorleifsson, SH Vermeulen, H Helgason, J Saemundsdottir, SA Gudjonsson, A Sigurdsson, SN Stacey, J Gudmundsson, H Johannsdottir, K Alexiusdottir, V Petursdottir, S Nikulasson, G Geirsson, T Jonsson, KK Aben, AJ Grotenhuis, GW Verhaegh, AM DudekJA Witjes, der Heijden AG van, A Vrieling, TE Galesloot, Juan A De, A Panadero, F Rivera, C Hurst, DT Bishop, SC Sak, A Choudhury, MT Teo, C Arici, A Carta, E Toninelli, Verdier P de, P Rudnai, E Gurzau, K Koppova, der Keur KA van, I Lurkin, M Goossens, E Kellen, GUARRERA Simonetta, ALESSIA RUSSO, ROSSANA CRITELLI, Carlotta SACERDOTE, VINEIS Paolo, C Krucker, MP Zeegers, H Gerullis, D Ovsiannikov, F Volkert, JG Hengstler, S Selinski, OT Magnusson, G Masson, A Kong, D Gudbjartsson, A Lindblom, E Zwarthoff, S Porru, K Golka, F Buntinx, MATULLO Giuseppe, R Kumar, JI Mayordomo, DG Steineck, AE Kiltie, E Jonsson, F Radvanyi, MA Knowles, U Thorsteinsdottir, LA Kiemeney, K. Stefansson

Dipartimento di Scienze della Salute

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.

Lingua originale	Inglese
pagine (da-a)	5545-5557
Numero di pagine	13
Rivista	Human Molecular Genetics
Volume	23
Numero di pubblicazione	20
DOI	https://doi.org/10.1093/hmg/ddu264
Stato di pubblicazione	Pubblicato - 2014

Keywords

bladder cancer
GWAS

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10.1093/hmg/ddu264

https://hdl.handle.net/11579/176923

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Rafnar, T., Sulem, P., Thorleifsson, G., Vermeulen, SH., Helgason, H., Saemundsdottir, J., Gudjonsson, SA., Sigurdsson, A., Stacey, SN., Gudmundsson, J., Johannsdottir, H., Alexiusdottir, K., Petursdottir, V., Nikulasson, S., Geirsson, G., Jonsson, T., Aben, KK., Grotenhuis, AJ., Verhaegh, GW., ... Stefansson, K. (2014). Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. Human Molecular Genetics, 23(20), 5545-5557. https://doi.org/10.1093/hmg/ddu264

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title = "Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer",

abstract = "Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.",

keywords = "bladder cancer, GWAS, bladder cancer, GWAS",

author = "T Rafnar and P Sulem and G Thorleifsson and SH Vermeulen and H Helgason and J Saemundsdottir and SA Gudjonsson and A Sigurdsson and SN Stacey and J Gudmundsson and H Johannsdottir and K Alexiusdottir and V Petursdottir and S Nikulasson and G Geirsson and T Jonsson and KK Aben and AJ Grotenhuis and GW Verhaegh and AM Dudek and JA Witjes and van, {der Heijden AG} and A Vrieling and TE Galesloot and De, {Juan A} and A Panadero and F Rivera and C Hurst and DT Bishop and SC Sak and A Choudhury and MT Teo and C Arici and A Carta and E Toninelli and de, {Verdier P} and P Rudnai and E Gurzau and K Koppova and van, {der Keur KA} and I Lurkin and M Goossens and E Kellen and GUARRERA Simonetta and ALESSIA RUSSO and ROSSANA CRITELLI and Carlotta SACERDOTE and VINEIS Paolo and C Krucker and MP Zeegers and H Gerullis and D Ovsiannikov and F Volkert and JG Hengstler and S Selinski and OT Magnusson and G Masson and A Kong and D Gudbjartsson and A Lindblom and E Zwarthoff and S Porru and K Golka and F Buntinx and MATULLO Giuseppe and R Kumar and JI Mayordomo and DG Steineck and AE Kiltie and E Jonsson and F Radvanyi and MA Knowles and U Thorsteinsdottir and LA Kiemeney and K. Stefansson",

year = "2014",

doi = "10.1093/hmg/ddu264",

language = "English",

volume = "23",

pages = "5545--5557",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "20",

}

Rafnar, T, Sulem, P, Thorleifsson, G, Vermeulen, SH, Helgason, H, Saemundsdottir, J, Gudjonsson, SA, Sigurdsson, A, Stacey, SN, Gudmundsson, J, Johannsdottir, H, Alexiusdottir, K, Petursdottir, V, Nikulasson, S, Geirsson, G, Jonsson, T, Aben, KK, Grotenhuis, AJ, Verhaegh, GW, Dudek, AM, Witjes, JA, van, DHAG, Vrieling, A, Galesloot, TE, De, JA, Panadero, A, Rivera, F, Hurst, C, Bishop, DT, Sak, SC, Choudhury, A, Teo, MT, Arici, C, Carta, A, Toninelli, E, de, VP, Rudnai, P, Gurzau, E, Koppova, K, van, DKKA, Lurkin, I, Goossens, M, Kellen, E, Simonetta, GUARRERA, RUSSO, ALESSIA, CRITELLI, ROSSANA, SACERDOTE, C, Paolo, VINEIS, Krucker, C, Zeegers, MP, Gerullis, H, Ovsiannikov, D, Volkert, F, Hengstler, JG, Selinski, S, Magnusson, OT, Masson, G, Kong, A, Gudbjartsson, D, Lindblom, A, Zwarthoff, E, Porru, S, Golka, K, Buntinx, F, Giuseppe, MATULLO, Kumar, R, Mayordomo, JI, Steineck, DG, Kiltie, AE, Jonsson, E, Radvanyi, F, Knowles, MA, Thorsteinsdottir, U, Kiemeney, LA & Stefansson, K 2014, 'Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer', Human Molecular Genetics, vol. 23, n. 20, pagg. 5545-5557. https://doi.org/10.1093/hmg/ddu264

TY - JOUR

T1 - Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

AU - Rafnar, T

AU - Sulem, P

AU - Thorleifsson, G

AU - Vermeulen, SH

AU - Helgason, H

AU - Saemundsdottir, J

AU - Gudjonsson, SA

AU - Sigurdsson, A

AU - Stacey, SN

AU - Gudmundsson, J

AU - Johannsdottir, H

AU - Alexiusdottir, K

AU - Petursdottir, V

AU - Nikulasson, S

AU - Geirsson, G

AU - Jonsson, T

AU - Aben, KK

AU - Grotenhuis, AJ

AU - Verhaegh, GW

AU - Dudek, AM

AU - Witjes, JA

AU - van, der Heijden AG

AU - Vrieling, A

AU - Galesloot, TE

AU - De, Juan A

AU - Panadero, A

AU - Rivera, F

AU - Hurst, C

AU - Bishop, DT

AU - Sak, SC

AU - Choudhury, A

AU - Teo, MT

AU - Arici, C

AU - Carta, A

AU - Toninelli, E

AU - de, Verdier P

AU - Rudnai, P

AU - Gurzau, E

AU - Koppova, K

AU - van, der Keur KA

AU - Lurkin, I

AU - Goossens, M

AU - Kellen, E

AU - Simonetta, GUARRERA

AU - RUSSO, ALESSIA

AU - CRITELLI, ROSSANA

AU - SACERDOTE, Carlotta

AU - Paolo, VINEIS

AU - Krucker, C

AU - Zeegers, MP

AU - Gerullis, H

AU - Ovsiannikov, D

AU - Volkert, F

AU - Hengstler, JG

AU - Selinski, S

AU - Magnusson, OT

AU - Masson, G

AU - Kong, A

AU - Gudbjartsson, D

AU - Lindblom, A

AU - Zwarthoff, E

AU - Porru, S

AU - Golka, K

AU - Buntinx, F

AU - Giuseppe, MATULLO

AU - Kumar, R

AU - Mayordomo, JI

AU - Steineck, DG

AU - Kiltie, AE

AU - Jonsson, E

AU - Radvanyi, F

AU - Knowles, MA

AU - Thorsteinsdottir, U

AU - Kiemeney, LA

AU - Stefansson, K.

PY - 2014

Y1 - 2014

N2 - Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.

AB - Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.

KW - bladder cancer

KW - GWAS

KW - bladder cancer

KW - GWAS

UR - https://iris.uniupo.it/handle/11579/176923

U2 - 10.1093/hmg/ddu264

DO - 10.1093/hmg/ddu264

M3 - Article

SN - 0964-6906

VL - 23

SP - 5545

EP - 5557

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 20

ER -

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

Abstract

Keywords

OSS delle Nazioni Unite

Accesso al documento

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