European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European G...
Published in: | Human Molecular Genetics |
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Format: | Article in Journal/Newspaper |
Language: | English |
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2011
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Online Access: | http://hdl.handle.net/10541/226175 https://doi.org/10.1093/hmg/ddr303 |
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ftchristienhs:oai:christie.openrepository.com:10541/226175 2023-05-15T16:51:31+02:00 European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Rafnar, T Vermeulen, S H Sulem, P Thorleifsson, G Aben, Katja K H Witjes, J A Grotenhuis, A J Verhaegh, G W Hulsbergen-van de Kaa, C A Besenbacher, S Gudbjartsson, D Stacey, S N Gudmundsson, J Johannsdottir, H Bjarnason, H Zanon, C Helgadottir, H Jonasson, J G Tryggvadottir, L Jonsson, E Geirsson, G Nikulasson, S Petursdottir, V Bishop, D T Chung-Sak, S Choudhury, Ananya Elliott, F Barrett, J H Knowles, M A de Verdier, P J Ryk, C Lindblom, A Rudnai, P Gurzau, E Koppova, K Vineis, P Polidoro, S Guarrera, S Sacerdote, C Panadero, A Sanz-Velez, J I Sanchez, M Valdivia, G Garcia-Prats, M D Hengstler, J G Selinski, S Gerullis, H Ovsiannikov, D Khezri, A Aminsharifi, Al Malekzadeh, M van den Berg, L H Ophoff, R A Veldink, J H Zeegers, M P Kellen, E Fostinelli, J Andreoli, D Arici, C Porru, S Buntinx, F Ghaderi, A Golka, K Mayordomo, J I Matullo, G Kumar, R Steineck, G Kiltie, A E Kong, A Thorsteinsdottir, U Stefansson, K Kiemeney, L A deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. 2011-11-01 http://hdl.handle.net/10541/226175 https://doi.org/10.1093/hmg/ddr303 en eng European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. 2011, 20 (21):4268-81 Hum Mol Genet 1460-2083 21750109 doi:10.1093/hmg/ddr303 http://hdl.handle.net/10541/226175 Human Molecular Genetics Archived with thanks to Human molecular genetics Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult Article 2011 ftchristienhs https://doi.org/10.1093/hmg/ddr303 2022-03-03T06:34:11Z Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC. Article in Journal/Newspaper Iceland The Christie School of Oncology: Christie Research Publications Repository Kidd ENVELOPE(-65.972,-65.972,-66.448,-66.448) Human Molecular Genetics 20 21 4268 4281 |
institution |
Open Polar |
collection |
The Christie School of Oncology: Christie Research Publications Repository |
op_collection_id |
ftchristienhs |
language |
English |
topic |
Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult |
spellingShingle |
Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult Rafnar, T Vermeulen, S H Sulem, P Thorleifsson, G Aben, Katja K H Witjes, J A Grotenhuis, A J Verhaegh, G W Hulsbergen-van de Kaa, C A Besenbacher, S Gudbjartsson, D Stacey, S N Gudmundsson, J Johannsdottir, H Bjarnason, H Zanon, C Helgadottir, H Jonasson, J G Tryggvadottir, L Jonsson, E Geirsson, G Nikulasson, S Petursdottir, V Bishop, D T Chung-Sak, S Choudhury, Ananya Elliott, F Barrett, J H Knowles, M A de Verdier, P J Ryk, C Lindblom, A Rudnai, P Gurzau, E Koppova, K Vineis, P Polidoro, S Guarrera, S Sacerdote, C Panadero, A Sanz-Velez, J I Sanchez, M Valdivia, G Garcia-Prats, M D Hengstler, J G Selinski, S Gerullis, H Ovsiannikov, D Khezri, A Aminsharifi, Al Malekzadeh, M van den Berg, L H Ophoff, R A Veldink, J H Zeegers, M P Kellen, E Fostinelli, J Andreoli, D Arici, C Porru, S Buntinx, F Ghaderi, A Golka, K Mayordomo, J I Matullo, G Kumar, R Steineck, G Kiltie, A E Kong, A Thorsteinsdottir, U Stefansson, K Kiemeney, L A European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
topic_facet |
Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult |
description |
Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC. |
author2 |
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. |
format |
Article in Journal/Newspaper |
author |
Rafnar, T Vermeulen, S H Sulem, P Thorleifsson, G Aben, Katja K H Witjes, J A Grotenhuis, A J Verhaegh, G W Hulsbergen-van de Kaa, C A Besenbacher, S Gudbjartsson, D Stacey, S N Gudmundsson, J Johannsdottir, H Bjarnason, H Zanon, C Helgadottir, H Jonasson, J G Tryggvadottir, L Jonsson, E Geirsson, G Nikulasson, S Petursdottir, V Bishop, D T Chung-Sak, S Choudhury, Ananya Elliott, F Barrett, J H Knowles, M A de Verdier, P J Ryk, C Lindblom, A Rudnai, P Gurzau, E Koppova, K Vineis, P Polidoro, S Guarrera, S Sacerdote, C Panadero, A Sanz-Velez, J I Sanchez, M Valdivia, G Garcia-Prats, M D Hengstler, J G Selinski, S Gerullis, H Ovsiannikov, D Khezri, A Aminsharifi, Al Malekzadeh, M van den Berg, L H Ophoff, R A Veldink, J H Zeegers, M P Kellen, E Fostinelli, J Andreoli, D Arici, C Porru, S Buntinx, F Ghaderi, A Golka, K Mayordomo, J I Matullo, G Kumar, R Steineck, G Kiltie, A E Kong, A Thorsteinsdottir, U Stefansson, K Kiemeney, L A |
author_facet |
Rafnar, T Vermeulen, S H Sulem, P Thorleifsson, G Aben, Katja K H Witjes, J A Grotenhuis, A J Verhaegh, G W Hulsbergen-van de Kaa, C A Besenbacher, S Gudbjartsson, D Stacey, S N Gudmundsson, J Johannsdottir, H Bjarnason, H Zanon, C Helgadottir, H Jonasson, J G Tryggvadottir, L Jonsson, E Geirsson, G Nikulasson, S Petursdottir, V Bishop, D T Chung-Sak, S Choudhury, Ananya Elliott, F Barrett, J H Knowles, M A de Verdier, P J Ryk, C Lindblom, A Rudnai, P Gurzau, E Koppova, K Vineis, P Polidoro, S Guarrera, S Sacerdote, C Panadero, A Sanz-Velez, J I Sanchez, M Valdivia, G Garcia-Prats, M D Hengstler, J G Selinski, S Gerullis, H Ovsiannikov, D Khezri, A Aminsharifi, Al Malekzadeh, M van den Berg, L H Ophoff, R A Veldink, J H Zeegers, M P Kellen, E Fostinelli, J Andreoli, D Arici, C Porru, S Buntinx, F Ghaderi, A Golka, K Mayordomo, J I Matullo, G Kumar, R Steineck, G Kiltie, A E Kong, A Thorsteinsdottir, U Stefansson, K Kiemeney, L A |
author_sort |
Rafnar, T |
title |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_short |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_full |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_fullStr |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_full_unstemmed |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_sort |
european genome-wide association study identifies slc14a1 as a new urinary bladder cancer susceptibility gene. |
publishDate |
2011 |
url |
http://hdl.handle.net/10541/226175 https://doi.org/10.1093/hmg/ddr303 |
long_lat |
ENVELOPE(-65.972,-65.972,-66.448,-66.448) |
geographic |
Kidd |
geographic_facet |
Kidd |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. 2011, 20 (21):4268-81 Hum Mol Genet 1460-2083 21750109 doi:10.1093/hmg/ddr303 http://hdl.handle.net/10541/226175 Human Molecular Genetics |
op_rights |
Archived with thanks to Human molecular genetics |
op_doi |
https://doi.org/10.1093/hmg/ddr303 |
container_title |
Human Molecular Genetics |
container_volume |
20 |
container_issue |
21 |
container_start_page |
4268 |
op_container_end_page |
4281 |
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1766041643523244032 |