Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer

X Wu; Y Ye; Kiemeney LA; P Sulem; T Rafnar; Giuseppe MATULLO; D Seminara; T Yoshida; N Saeki; Andrew AS; Dinney CP; B Czerniak; Zhang ZF; Kiltie AE; Bishop DT; Paolo VINEIS; S Porru; F Buntinx; E Kellen; Zeegers MP; R Kumar; P Rudnai; E Gurzau; K Koppova; Mayordomo JI; M Sanchez; B Saez; A Lindblom; P de Verdier; G Steineck; Mills GB; A Schned; Simonetta GUARRERA; Silvia POLIDORO; Chang SC; J Lin; Chang DW; Hale KS; T Majewski; Grossman HB; S Thorlacius; U Thorsteinsdottir; Aben KK; Witjes JA; K Stefansson; Amos CI; Karagas MR; J. Gu

doi:10.1038/ng.421

Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer

X Wu
, Y Ye
, Kiemeney LA
, P Sulem
, T Rafnar
, Giuseppe MATULLO
, D Seminara
, T Yoshida
, N Saeki
, Andrew AS
, Dinney CP
, B Czerniak
, Zhang ZF
, Kiltie AE
, Bishop DT
, Paolo VINEIS
, S Porru
, F Buntinx
, E Kellen
, Zeegers MP

R Kumar, P Rudnai, E Gurzau, K Koppova, Mayordomo JI, M Sanchez, B Saez, A Lindblom, P de Verdier, G Steineck, Mills GB, A Schned, Simonetta GUARRERA, Silvia POLIDORO, Chang SC, J Lin, Chang DW, Hale KS, T Majewski, Grossman HB, S Thorlacius, U Thorsteinsdottir, Aben KK, Witjes JA, K Stefansson, Amos CI, Karagas MR, J. Gu

Dipartimento di Medicina Traslazionale

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

Abstract

We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus

Lingua originale	Inglese
pagine (da-a)	991-995
Numero di pagine	5
Rivista	Nature Genetics
Volume	41
Numero di pubblicazione	9
DOI	https://doi.org/10.1038/ng.421
Stato di pubblicazione	Pubblicato - 2009

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Keywords

bladder cancer
genome-wide association
PSCA

Accesso al documento

10.1038/ng.421

https://hdl.handle.net/11579/223185

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Wu, X., Ye, Y., LA, K., Sulem, P., Rafnar, T., MATULLO, G., Seminara, D., Yoshida, T., Saeki, N., AS, A., CP, D., Czerniak, B., ZF, Z., AE, K., DT, B., VINEIS, P., Porru, S., Buntinx, F., Kellen, E., ... Gu, J. (2009). Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nature Genetics, 41(9), 991-995. https://doi.org/10.1038/ng.421

@article{7a11073d51d04bf69bb39894e9546663,

title = "Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer",

abstract = "We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95\% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus",

keywords = "bladder cancer, genome-wide association, PSCA, bladder cancer, genome-wide association, PSCA",

author = "X Wu and Y Ye and Kiemeney LA and P Sulem and T Rafnar and Giuseppe MATULLO and D Seminara and T Yoshida and N Saeki and Andrew AS and Dinney CP and B Czerniak and Zhang ZF and Kiltie AE and Bishop DT and Paolo VINEIS and S Porru and F Buntinx and E Kellen and Zeegers MP and R Kumar and P Rudnai and E Gurzau and K Koppova and Mayordomo JI and M Sanchez and B Saez and A Lindblom and \{de Verdier\}, P and G Steineck and Mills GB and A Schned and Simonetta GUARRERA and Silvia POLIDORO and Chang SC and J Lin and Chang DW and Hale KS and T Majewski and Grossman HB and S Thorlacius and U Thorsteinsdottir and Aben KK and Witjes JA and K Stefansson and Amos CI and Karagas MR and J. Gu",

year = "2009",

doi = "10.1038/ng.421",

language = "English",

volume = "41",

pages = "991--995",

journal = "Nature Genetics",

issn = "1061-4036",

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}

Wu, X, Ye, Y, LA, K, Sulem, P, Rafnar, T, MATULLO, G, Seminara, D, Yoshida, T, Saeki, N, AS, A, CP, D, Czerniak, B, ZF, Z, AE, K, DT, B, VINEIS, P, Porru, S, Buntinx, F, Kellen, E, MP, Z, Kumar, R, Rudnai, P, Gurzau, E, Koppova, K, JI, M, Sanchez, M, Saez, B, Lindblom, A, de Verdier, P, Steineck, G, GB, M, Schned, A, GUARRERA, S, POLIDORO, S, SC, C, Lin, J, DW, C, KS, H, Majewski, T, HB, G, Thorlacius, S, Thorsteinsdottir, U, KK, A, JA, W, Stefansson, K, CI, A, MR, K & Gu, J 2009, 'Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer', Nature Genetics, vol. 41, n. 9, pagg. 991-995. https://doi.org/10.1038/ng.421

TY - JOUR

T1 - Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer

AU - Wu, X

AU - Ye, Y

AU - LA, Kiemeney

AU - Sulem, P

AU - Rafnar, T

AU - MATULLO, Giuseppe

AU - Seminara, D

AU - Yoshida, T

AU - Saeki, N

AU - AS, Andrew

AU - CP, Dinney

AU - Czerniak, B

AU - ZF, Zhang

AU - AE, Kiltie

AU - DT, Bishop

AU - VINEIS, Paolo

AU - Porru, S

AU - Buntinx, F

AU - Kellen, E

AU - MP, Zeegers

AU - Kumar, R

AU - Rudnai, P

AU - Gurzau, E

AU - Koppova, K

AU - JI, Mayordomo

AU - Sanchez, M

AU - Saez, B

AU - Lindblom, A

AU - de Verdier, P

AU - Steineck, G

AU - GB, Mills

AU - Schned, A

AU - GUARRERA, Simonetta

AU - POLIDORO, Silvia

AU - SC, Chang

AU - Lin, J

AU - DW, Chang

AU - KS, Hale

AU - Majewski, T

AU - HB, Grossman

AU - Thorlacius, S

AU - Thorsteinsdottir, U

AU - KK, Aben

AU - JA, Witjes

AU - Stefansson, K

AU - CI, Amos

AU - MR, Karagas

AU - Gu, J.

PY - 2009

Y1 - 2009

N2 - We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus

AB - We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus

KW - bladder cancer

KW - genome-wide association

KW - PSCA

KW - bladder cancer

KW - genome-wide association

KW - PSCA

UR - https://iris.uniupo.it/handle/11579/223185

U2 - 10.1038/ng.421

DO - 10.1038/ng.421

M3 - Article

SN - 1061-4036

VL - 41

SP - 991

EP - 995

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

Genetic variation in the prostate stemcell antigen gene PSCA confers susceptibility to urinary bladder cancer

Abstract

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Keywords

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