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1. Supplementary Table 1 from Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population-Based Nested Case-Control Study, Systematic Review, and Meta-analysis

Author

Collin, Simon M., primary, Metcalfe, Chris, primary, Zuccolo, Luisa, primary, Lewis, Sarah J., primary, Chen, Lina, primary, Cox, Angela, primary, Davis, Michael, primary, Lane, J. Athene, primary, Donovan, Jenny, primary, Smith, George Davey, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Gudmundsson, Julius, primary, Sulem, Patrick, primary, Rafnar, Thorunn, primary, Benediktsdottir, Kristrun R., primary, Eeles, Rosalind A., primary, Guy, Michelle, primary, Kote-Jarai, Zsofia, primary, Morrison, Jonathan, primary, Al Olama, Ali Amin, primary, Stefansson, Kari, primary, Easton, Douglas F., primary, and Martin, Richard M., primary

Published
2023
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2. Data from Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population-Based Nested Case-Control Study, Systematic Review, and Meta-analysis

Author

Collin, Simon M., primary, Metcalfe, Chris, primary, Zuccolo, Luisa, primary, Lewis, Sarah J., primary, Chen, Lina, primary, Cox, Angela, primary, Davis, Michael, primary, Lane, J. Athene, primary, Donovan, Jenny, primary, Smith, George Davey, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Gudmundsson, Julius, primary, Sulem, Patrick, primary, Rafnar, Thorunn, primary, Benediktsdottir, Kristrun R., primary, Eeles, Rosalind A., primary, Guy, Michelle, primary, Kote-Jarai, Zsofia, primary, Morrison, Jonathan, primary, Al Olama, Ali Amin, primary, Stefansson, Kari, primary, Easton, Douglas F., primary, and Martin, Richard M., primary

Published
2023
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3. Supplementary Table 2 from Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population-Based Nested Case-Control Study, Systematic Review, and Meta-analysis

Author

Collin, Simon M., primary, Metcalfe, Chris, primary, Zuccolo, Luisa, primary, Lewis, Sarah J., primary, Chen, Lina, primary, Cox, Angela, primary, Davis, Michael, primary, Lane, J. Athene, primary, Donovan, Jenny, primary, Smith, George Davey, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Gudmundsson, Julius, primary, Sulem, Patrick, primary, Rafnar, Thorunn, primary, Benediktsdottir, Kristrun R., primary, Eeles, Rosalind A., primary, Guy, Michelle, primary, Kote-Jarai, Zsofia, primary, Morrison, Jonathan, primary, Al Olama, Ali Amin, primary, Stefansson, Kari, primary, Easton, Douglas F., primary, and Martin, Richard M., primary

Published
2023
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4. Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Author

Stacey, Simon N., Sulem, Patrick, Gudbjartsson, Daniel F., Jonasdottir, Aslaug, Thorleifsson, Gudmar, Gudjonsson, Sigurjon A., Masson, Gisli, Gudmundsson, Julius, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Thorisdottir, Kristin, Ragnarsson, Rafn, Fuentelsaz, Victoria, Corredera, Cristina, Grasa, Matilde, Planelles, Dolores, Sanmartin, Onofre, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Johannsdottir, Hrefna, Helgadottir, Hafdis T., Thorsteinsdottir, Unnur, Kong, Augustine, Vogel, Ulla, Kumar, Rajiv, Nagore, Eduardo, Mayordomo, José I., Rafnar, Thorunn, Olafsson, Jon H., and Stefansson, Kari

Published
2014
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5. Parental origin of sequence variants associated with complex diseases

Author

Kong, Augustine, Steinthorsdottir, Valgerdur, Masson, Gisli, Thorleifsson, Gudmar, Sulem, Patrick, Besenbacher, Soren, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Kristinsson, Kari Th., Jonasdottir, Adalbjorg, Frigge, Michael L., Gylfason, Arnaldur, Olason, Pall I., Gudjonsson, Sigurjon A., Sverrisson, Sverrir, Stacey, Simon N., Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Sigurdsson, Helgi, Jonsson, Thorvaldur, Benediktsson, Rafn, Olafsson, Jon H., Johannsson, Oskar Th., Hreidarsson, Astradur B., Sigurdsson, Gunnar, Ferguson-Smith, Anne C., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari

Subjects
Genes -- Physiological aspects -- Research -- Genetic aspects, Single nucleotide polymorphisms -- Research -- Physiological aspects -- Genetic aspects, Type 2 diabetes -- Genetic aspects -- Risk factors -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five--one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes--have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site., The effect of sequence variants on phenotypes may depend on parental origin. The most obvious scheme, although not the only one (1), is imprinting in which the effect is limited [...]

Published
2009
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8. Insertion of an SVA-E retrotransposon into theCASP8gene is associated with protection against prostate cancer

Author

Stacey, Simon N., primary, Kehr, Birte, additional, Gudmundsson, Julius, additional, Zink, Florian, additional, Jonasdottir, Aslaug, additional, Gudjonsson, Sigurjon A., additional, Sigurdsson, Asgeir, additional, Halldorsson, Bjarni V., additional, Agnarsson, Bjarni A., additional, Benediktsdottir, Kristrun R., additional, Aben, Katja K.H., additional, Vermeulen, Sita H., additional, Cremers, Ruben G., additional, Panadero, Angeles, additional, Helfand, Brian T., additional, Cooper, Phillip R., additional, Donovan, Jenny L., additional, Hamdy, Freddie C., additional, Jinga, Viorel, additional, Okamoto, Ichiro, additional, Jonasson, Jon G., additional, Tryggvadottir, Laufey, additional, Johannsdottir, Hrefna, additional, Kristinsdottir, Anna M., additional, Masson, Gisli, additional, Magnusson, Olafur T., additional, Iordache, Paul D., additional, Helgason, Agnar, additional, Helgason, Hannes, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Kong, Augustine, additional, Jonsson, Eirikur, additional, Barkardottir, Rosa B., additional, Einarsson, Gudmundur V., additional, Rafnar, Thorunn, additional, Thorsteinsdottir, Unnur, additional, Mates, Ioan N., additional, Neal, David E., additional, Catalona, William J., additional, Mayordomo, José I., additional, Kiemeney, Lambertus A., additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional

Published
2016
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9. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Author

Nexø, Bjørn A, Gudbjartsson, Daniel F, Planelles, Dolores, Magnusson, Olafur T, García-Prats, Maria D, Sulem, Patrick, Overvad, Kim, Fuertes, Fernando, Soriano, Virtudes, Rudnai, Peter, Benediktsdottir, Kristrun R, Gudmundsson, Julius, Koppova, Kvetoslava, Ragnarsson, Rafn, Stacey, Simon N, Thorisdottir, Kristin, Tjønneland, Anne, Sigurgeirsson, Bardur, Garcia, Almudena, Panadero, Angeles, Masson, Gisli, De Juan, Ana, Sanambrosio, Enrique, Fuentelsaz, Victoria, Rivera, Fernando, Hemminki, Kari, Navarrete, Sebastian, Corredera, Cristina, Gurzau, Eugene, Gudjonsson, Sigurjon A, Grasa, Pilar, and Jonasdottir, Aslaug

Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10−17), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10−20). rs78378222 is in the 3′ untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3′-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10−6), glioma (OR = 2.35, P = 1.0 × 10−5) and colorectal adenoma (OR = 1.39, P = 1.6 × 10−4). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88–1.27).

Published
2011
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10. New basal cell carcinoma susceptibility loci

Author

Stacey, Simon N., primary, Helgason, Hannes, additional, Gudjonsson, Sigurjon A., additional, Thorleifsson, Gudmar, additional, Zink, Florian, additional, Sigurdsson, Asgeir, additional, Kehr, Birte, additional, Gudmundsson, Julius, additional, Sulem, Patrick, additional, Sigurgeirsson, Bardur, additional, Benediktsdottir, Kristrun R., additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Fuentelsaz, Victoria, additional, Corredera, Cristina, additional, Gilaberte, Yolanda, additional, Grasa, Matilde, additional, Planelles, Dolores, additional, Sanmartin, Onofre, additional, Rudnai, Peter, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, Nexø, Bjørn A., additional, Tjønneland, Anne, additional, Overvad, Kim, additional, Jonasson, Jon G., additional, Tryggvadottir, Laufey, additional, Johannsdottir, Hrefna, additional, Kristinsdottir, Anna M., additional, Stefansson, Hreinn, additional, Masson, Gisli, additional, Magnusson, Olafur T., additional, Halldorsson, Bjarni V., additional, Kong, Augustine, additional, Rafnar, Thorunn, additional, Thorsteinsdottir, Unnur, additional, Vogel, Ulla, additional, Kumar, Rajiv, additional, Nagore, Eduardo, additional, Mayordomo, José I., additional, Gudbjartsson, Daniel F., additional, Olafsson, Jon H., additional, and Stefansson, Kari, additional

Published
2015
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11. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

Author

Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Jinga, Mariana, Csiki, Irma E, Constantinescu, Vali, Badea, Paula, Mates, Ioan N, Dinu, Daniela E, Constantin, Adrian, Mates, Dana, Kristjansdottir, Sjofn, Agnarsson, Bjarni A, Jonsson, Eirikur, Barkardottir, Rosa B, Einarsson, Gudmundur V, Sigurdsson, Fridbjorn, Moller, Pall H, Stefansson, Tryggvi, Valdimarsson, Trausti, Johannsson, Oskar T, Sigurdsson, Helgi, Jonsson, Thorvaldur, Jonasson, Jon G, Tryggvadottir, Laufey, Rice, Terri, Hansen, Helen M, Xiao, Yuanyuan, Lachance, Daniel H, O Neill, Brian Patrick, Kosel, Matthew L, Decker, Paul A, Thorleifsson, Gudmar, Johannsdottir, Hrefna, Helgadottir, Hafdis T, Sigurdsson, Asgeir, Steinthorsdottir, Valgerdur, Lindblom, Annika, Sandler, Robert S, Keku, Temitope O, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Jinga, Viorel, Neal, David E, Catalona, William J, Wrensch, Margaret, Wiencke, John, Jenkins, Robert B, Nagore, Eduardo, Vogel, Ulla, Kiemeney, Lambertus A, Kumar, Rajiv, Mayordomo, José I, Olafsson, Jon H, Kong, Augustine, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Stefansson, Kari, Smedh, Kenneth, Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Jinga, Mariana, Csiki, Irma E, Constantinescu, Vali, Badea, Paula, Mates, Ioan N, Dinu, Daniela E, Constantin, Adrian, Mates, Dana, Kristjansdottir, Sjofn, Agnarsson, Bjarni A, Jonsson, Eirikur, Barkardottir, Rosa B, Einarsson, Gudmundur V, Sigurdsson, Fridbjorn, Moller, Pall H, Stefansson, Tryggvi, Valdimarsson, Trausti, Johannsson, Oskar T, Sigurdsson, Helgi, Jonsson, Thorvaldur, Jonasson, Jon G, Tryggvadottir, Laufey, Rice, Terri, Hansen, Helen M, Xiao, Yuanyuan, Lachance, Daniel H, O Neill, Brian Patrick, Kosel, Matthew L, Decker, Paul A, Thorleifsson, Gudmar, Johannsdottir, Hrefna, Helgadottir, Hafdis T, Sigurdsson, Asgeir, Steinthorsdottir, Valgerdur, Lindblom, Annika, Sandler, Robert S, Keku, Temitope O, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Jinga, Viorel, Neal, David E, Catalona, William J, Wrensch, Margaret, Wiencke, John, Jenkins, Robert B, Nagore, Eduardo, Vogel, Ulla, Kiemeney, Lambertus A, Kumar, Rajiv, Mayordomo, José I, Olafsson, Jon H, Kong, Augustine, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Stefansson, Kari, and Smedh, Kenneth

Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).

Published
2011
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12. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.

Author

Gudmundsson, Julius, Sulem, Patrick, Rafnar, Thorunn, Bergthorsson, Jon T, Manolescu, Andrei, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Blondal, Thorarinn, Jakobsdottir, Margret, Stacey, Simon N, Kostic, Jelena, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Magnusdottir, Droplaug N, Thorlacius, Steinunn, Thorleifsson, Gudmar, Zheng, S Lilly, Sun, Jielin, Chang, Bao-Li, Elmore, J Bradford, Breyer, Joan P, McReynolds, Kate M, Bradley, Kevin M, Yaspan, Brian L, Wiklund, Fredrik, Stattin, Pär, Lindström, Sara, Adami, Hans-Olov, McDonnell, Shannon K, Schaid, Daniel J, Cunningham, Julie M, Wang, Liang, Cerhan, James R, St Sauver, Jennifer L, Isaacs, Sara D, Wiley, Kathleen E, Partin, Alan W, Walsh, Patrick C, Polo, Sonia, Ruiz-Echarri, Manuel, Navarrete, Sebastian, Fuertes, Fernando, Saez, Berta, Godino, Javier, Weijerman, Philip C, Swinkels, Dorine W, Aben, Katja K, Witjes, J Alfred, Suarez, Brian K, Helfand, Brian T, Frigge, Michael L, Kristjansson, Kristleifur, Ober, Carole, Jonsson, Eirikur, Einarsson, Gudmundur V, Xu, Jianfeng, Gronberg, Henrik, Smith, Jeffrey R, Thibodeau, Stephen N, Isaacs, William B, Catalona, William J, Mayordomo, Jose I, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari, Gudmundsson, Julius, Sulem, Patrick, Rafnar, Thorunn, Bergthorsson, Jon T, Manolescu, Andrei, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Blondal, Thorarinn, Jakobsdottir, Margret, Stacey, Simon N, Kostic, Jelena, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Magnusdottir, Droplaug N, Thorlacius, Steinunn, Thorleifsson, Gudmar, Zheng, S Lilly, Sun, Jielin, Chang, Bao-Li, Elmore, J Bradford, Breyer, Joan P, McReynolds, Kate M, Bradley, Kevin M, Yaspan, Brian L, Wiklund, Fredrik, Stattin, Pär, Lindström, Sara, Adami, Hans-Olov, McDonnell, Shannon K, Schaid, Daniel J, Cunningham, Julie M, Wang, Liang, Cerhan, James R, St Sauver, Jennifer L, Isaacs, Sara D, Wiley, Kathleen E, Partin, Alan W, Walsh, Patrick C, Polo, Sonia, Ruiz-Echarri, Manuel, Navarrete, Sebastian, Fuertes, Fernando, Saez, Berta, Godino, Javier, Weijerman, Philip C, Swinkels, Dorine W, Aben, Katja K, Witjes, J Alfred, Suarez, Brian K, Helfand, Brian T, Frigge, Michael L, Kristjansson, Kristleifur, Ober, Carole, Jonsson, Eirikur, Einarsson, Gudmundur V, Xu, Jianfeng, Gronberg, Henrik, Smith, Jeffrey R, Thibodeau, Stephen N, Isaacs, William B, Catalona, William J, Mayordomo, Jose I, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, and Stefansson, Kari

Published
2008

13. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes

Author

Gudmundsson, Julius, Sulem, Patrick, Steinthorsdottir, Valgerdur, Bergthorsson, Jon T, Thorleifsson, Gudmar, Manolescu, Andrei, Rafnar, Thorunn, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Baker, Adam, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Jakobsdottir, Margret, Blondal, Thorarinn, Stacey, Simon N, Helgason, Agnar, Gunnarsdottir, Steinunn, Olafsdottir, Adalheidur, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Thorlacius, Steinunn, Magnusdottir, Dana, Stefansdottir, Gerdur, Kristjansson, Kristleifur, Bagger, Yu, Wilensky, Robert L, Reilly, Muredach P, Morris, Andrew D, Kimber, Charlotte H, Adeyemo, Adebowale, Chen, Yuanxiu, Zhou, Jie, So, Wing-Yee, Tong, Peter C Y, Ng, Maggie C Y, Hansen, Torben, Andersen, Gitte, Borch-Johnsen, Knut, Jorgensen, Torben, Tres, Alejandro, Fuertes, Fernando, Ruiz-Echarri, Manuel, Asin, Laura, Saez, Berta, van Boven, Erica, Klaver, Siem, Swinkels, Dorine W, Aben, Katja K, Graif, Theresa, Cashy, John, Suarez, Brian K, van Vierssen Trip, Onco, Frigge, Michael L, Ober, Carole, Hofker, Marten H, Wijmenga, Cisca, Christiansen, Claus, Rader, Daniel J, Palmer, Colin N A, Rotimi, Charles, Chan, Juliana C N, Pedersen, Oluf, Sigurdsson, Gunnar, Benediktsson, Rafn, Jonsson, Eirikur, Einarsson, Gudmundur V, Mayordomo, Jose I, Catalona, William J, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari, Gudmundsson, Julius, Sulem, Patrick, Steinthorsdottir, Valgerdur, Bergthorsson, Jon T, Thorleifsson, Gudmar, Manolescu, Andrei, Rafnar, Thorunn, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Baker, Adam, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Jakobsdottir, Margret, Blondal, Thorarinn, Stacey, Simon N, Helgason, Agnar, Gunnarsdottir, Steinunn, Olafsdottir, Adalheidur, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Thorlacius, Steinunn, Magnusdottir, Dana, Stefansdottir, Gerdur, Kristjansson, Kristleifur, Bagger, Yu, Wilensky, Robert L, Reilly, Muredach P, Morris, Andrew D, Kimber, Charlotte H, Adeyemo, Adebowale, Chen, Yuanxiu, Zhou, Jie, So, Wing-Yee, Tong, Peter C Y, Ng, Maggie C Y, Hansen, Torben, Andersen, Gitte, Borch-Johnsen, Knut, Jorgensen, Torben, Tres, Alejandro, Fuertes, Fernando, Ruiz-Echarri, Manuel, Asin, Laura, Saez, Berta, van Boven, Erica, Klaver, Siem, Swinkels, Dorine W, Aben, Katja K, Graif, Theresa, Cashy, John, Suarez, Brian K, van Vierssen Trip, Onco, Frigge, Michael L, Ober, Carole, Hofker, Marten H, Wijmenga, Cisca, Christiansen, Claus, Rader, Daniel J, Palmer, Colin N A, Rotimi, Charles, Chan, Juliana C N, Pedersen, Oluf, Sigurdsson, Gunnar, Benediktsson, Rafn, Jonsson, Eirikur, Einarsson, Gudmundur V, Mayordomo, Jose I, Catalona, William J, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, and Stefansson, Kari

Abstract

We performed a genome-wide association scan to search for sequence variants conferring risk of prostate cancer using 1,501 Icelandic men with prostate cancer and 11,290 controls. Follow-up studies involving three additional case-control groups replicated an association of two variants on chromosome 17 with the disease. These two variants, 33 Mb apart, fall within a region previously implicated by family-based linkage studies on prostate cancer. The risks conferred by these variants are moderate individually (allele odds ratio of about 1.20), but because they are common, their joint population attributable risk is substantial. One of the variants is in TCF2 (HNF1beta), a gene known to be mutated in individuals with maturity-onset diabetes of the young type 5. Results from eight case-control groups, including one West African and one Chinese, demonstrate that this variant confers protection against type 2 diabetes.

Published
2007

14. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.

Author

Stacey, Simon N., Kehr, Birte, Gudmundsson, Julius, FlorianZink, Jonasdottir, Aslaug, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Halldorsson, Bjarni V., Agnarsson, Bjarni A., Benediktsdottir, Kristrun R., Aben, Katja K. H., Vermeulen, Sita H., Cremers, Ruben G., Panadero, Angeles, Helfand, Brian T., Cooper, Phillip R., Donovan, Jenny L., Hamdy, Freddie C., Jinga, Viorel, and Ichiro Okamoto

Published
2016
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15. A common variant associated with prostate cancer in European and African populations

Author

Amundadottir, Laufey T, Sulem, Patrick, Gudmundsson, Julius, Helgasson, Agnar, Baker, Adam, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N, Gosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T, Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E, Yu, Xiaoying, Suarez, Brian K, Ober, Carole, Cooney, Kathleen A, Grönberg, Henrik, Catalona, William J, Einarsson, Gudmundur V, Barkardottir, Rosa B, Gulcher, Jeffrey R, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari, Amundadottir, Laufey T, Sulem, Patrick, Gudmundsson, Julius, Helgasson, Agnar, Baker, Adam, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N, Gosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T, Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E, Yu, Xiaoying, Suarez, Brian K, Ober, Carole, Cooney, Kathleen A, Grönberg, Henrik, Catalona, William J, Einarsson, Gudmundur V, Barkardottir, Rosa B, Gulcher, Jeffrey R, Kong, Augustine, Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2006
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16. A common variant associated with prostate cancer in European and African populations

Author

Amundadottir, Laufey T., Sulem, Patrick, Gudmundsson, Julius, Helgason, Agnar, Baker, Adam, Agnarsson, Bjarni A., Sigurdsson, Asgeir, Benediktsdottir, Kristrun R., Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N., Ghosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T., Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E., Yu, Xiaoying, Suarez, Brian K., Ober, Carole, Cooney, Kathleen A., Gronberg, Henrik, Catalona, William J., Einarsson, Gudmundur V., Barkardottir, Rosa B., Gulcher, Jeffrey R., Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari, Amundadottir, Laufey T., Sulem, Patrick, Gudmundsson, Julius, Helgason, Agnar, Baker, Adam, Agnarsson, Bjarni A., Sigurdsson, Asgeir, Benediktsdottir, Kristrun R., Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N., Ghosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T., Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E., Yu, Xiaoying, Suarez, Brian K., Ober, Carole, Cooney, Kathleen A., Gronberg, Henrik, Catalona, William J., Einarsson, Gudmundur V., Barkardottir, Rosa B., Gulcher, Jeffrey R., Kong, Augustine, Thorsteinsdottir, Unnur, and Stefansson, Kari

Abstract

With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allele -8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US. The estimated odds ratio (OR) of the allele is 1.62 (P = 2.7 x 10(-11)). About 19% of affected men and 13% of the general population carry at least one copy, yielding a population attributable risk (PAR) of approximately 8%. The association was also replicated in an African American case-control group with a similar OR, in which 41% of affected individuals and 30% of the population are carriers. This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry.

Published
2006
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17. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Masson, Gisli, additional, Agnarsson, Bjarni A, additional, Benediktsdottir, Kristrun R, additional, Sigurdsson, Asgeir, additional, Magnusson, Olafur Th, additional, Gudjonsson, Sigurjon A, additional, Magnusdottir, Droplaug N, additional, Johannsdottir, Hrefna, additional, Helgadottir, Hafdis Th, additional, Stacey, Simon N, additional, Jonasdottir, Adalbjorg, additional, Olafsdottir, Stefania B, additional, Thorleifsson, Gudmar, additional, Jonasson, Jon G, additional, Tryggvadottir, Laufey, additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Helfand, Brian T, additional, Hu, Qiaoyan, additional, Csiki, Irma E, additional, Mates, Ioan N, additional, Jinga, Viorel, additional, Aben, Katja K H, additional, van Oort, Inge M, additional, Vermeulen, Sita H, additional, Donovan, Jenny L, additional, Hamdy, Freddy C, additional, Ng, Chi-Fai, additional, Chiu, Peter K F, additional, Lau, Kin-Mang, additional, Ng, Maggie C Y, additional, Gulcher, Jeffrey R, additional, Kong, Augustine, additional, Catalona, William J, additional, Mayordomo, Jose I, additional, Einarsson, Gudmundur V, additional, Barkardottir, Rosa B, additional, Jonsson, Eirikur, additional, Mates, Dana, additional, Neal, David E, additional, Kiemeney, Lambertus A, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2012
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18. Mutations in BRIP1 confer high risk of ovarian cancer

Author

Rafnar, Thorunn, primary, Gudbjartsson, Daniel F, additional, Sulem, Patrick, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Jonasdottir, Adalbjorg, additional, Besenbacher, Soren, additional, Lundin, Pär, additional, Stacey, Simon N, additional, Gudmundsson, Julius, additional, Magnusson, Olafur T, additional, le Roux, Louise, additional, Orlygsdottir, Gudbjorg, additional, Helgadottir, Hafdis T, additional, Johannsdottir, Hrefna, additional, Gylfason, Arnaldur, additional, Tryggvadottir, Laufey, additional, Jonasson, Jon G, additional, de Juan, Ana, additional, Ortega, Eugenia, additional, Ramon-Cajal, Jose M, additional, García-Prats, Maria D, additional, Mayordomo, Carlos, additional, Panadero, Angeles, additional, Rivera, Fernando, additional, Aben, Katja K H, additional, van Altena, Anne M, additional, Massuger, Leon F A G, additional, Aavikko, Mervi, additional, Kujala, Paula M, additional, Staff, Synnöve, additional, Aaltonen, Lauri A, additional, Olafsdottir, Kristrun, additional, Bjornsson, Johannes, additional, Kong, Augustine, additional, Salvarsdottir, Anna, additional, Saemundsson, Hafsteinn, additional, Olafsson, Karl, additional, Benediktsdottir, Kristrun R, additional, Gulcher, Jeffrey, additional, Masson, Gisli, additional, Kiemeney, Lambertus A, additional, Mayordomo, Jose I, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2011
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19. Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels

Author

Gudmundsson, Julius, primary, Besenbacher, Soren, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Olafsson, Isleifur, additional, Arinbjarnarson, Sturla, additional, Agnarsson, Bjarni A., additional, Benediktsdottir, Kristrun R., additional, Isaksson, Helgi J., additional, Kostic, Jelena P., additional, Gudjonsson, Sigurjon A., additional, Stacey, Simon N., additional, Gylfason, Arnaldur, additional, Sigurdsson, Asgeir, additional, Holm, Hilma, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Garcia-Prats, Maria D., additional, Polo, Eduardo, additional, Checherita, Ionel A., additional, Jinga, Mariana, additional, Badea, Paula, additional, Aben, Katja K., additional, Schalken, Jack A., additional, van Oort, Inge M., additional, Sweep, Fred C., additional, Helfand, Brian T., additional, Davis, Michael, additional, Donovan, Jenny L., additional, Hamdy, Freddie C., additional, Kristjansson, Kristleifur, additional, Gulcher, Jeffrey R., additional, Masson, Gisli, additional, Kong, Augustine, additional, Catalona, William J., additional, Mayordomo, Jose I., additional, Geirsson, Gudmundur, additional, Einarsson, Gudmundur V., additional, Barkardottir, Rosa B., additional, Jonsson, Eirikur, additional, Jinga, Viorel, additional, Mates, Dana, additional, Kiemeney, Lambertus A., additional, Neal, David E., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2010
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20. Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Blondal, Thorarinn, additional, Gylfason, Arnaldur, additional, Agnarsson, Bjarni A, additional, Benediktsdottir, Kristrun R, additional, Magnusdottir, Droplaug N, additional, Orlygsdottir, Gudbjorg, additional, Jakobsdottir, Margret, additional, Stacey, Simon N, additional, Sigurdsson, Asgeir, additional, Wahlfors, Tiina, additional, Tammela, Teuvo, additional, Breyer, Joan P, additional, McReynolds, Kate M, additional, Bradley, Kevin M, additional, Saez, Berta, additional, Godino, Javier, additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Murillo, Laura, additional, Polo, Eduardo, additional, Aben, Katja K, additional, van Oort, Inge M, additional, Suarez, Brian K, additional, Helfand, Brian T, additional, Kan, Donghui, additional, Zanon, Carlo, additional, Frigge, Michael L, additional, Kristjansson, Kristleifur, additional, Gulcher, Jeffrey R, additional, Einarsson, Gudmundur V, additional, Jonsson, Eirikur, additional, Catalona, William J, additional, Mayordomo, Jose I, additional, Kiemeney, Lambertus A, additional, Smith, Jeffrey R, additional, Schleutker, Johanna, additional, Barkardottir, Rosa B, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2009
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21. New common variants affecting susceptibility to basal cell carcinoma

Author

Stacey, Simon N, primary, Sulem, Patrick, additional, Masson, Gisli, additional, Gudjonsson, Sigurjon A, additional, Thorleifsson, Gudmar, additional, Jakobsdottir, Margret, additional, Sigurdsson, Asgeir, additional, Gudbjartsson, Daniel F, additional, Sigurgeirsson, Bardur, additional, Benediktsdottir, Kristrun R, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Scherer, Dominique, additional, Hemminki, Kari, additional, Rudnai, Peter, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, Botella-Estrada, Rafael, additional, Soriano, Virtudes, additional, Juberias, Pablo, additional, Saez, Berta, additional, Gilaberte, Yolanda, additional, Fuentelsaz, Victoria, additional, Corredera, Cristina, additional, Grasa, Matilde, additional, Höiom, Veronica, additional, Lindblom, Annika, additional, Bonenkamp, Johannes J, additional, van Rossum, Michelle M, additional, Aben, Katja K H, additional, de Vries, Esther, additional, Santinami, Mario, additional, Di Mauro, Maria G, additional, Maurichi, Andrea, additional, Wendt, Judith, additional, Hochleitner, Pia, additional, Pehamberger, Hubert, additional, Gudmundsson, Julius, additional, Magnusdottir, Droplaug N, additional, Gretarsdottir, Solveig, additional, Holm, Hilma, additional, Steinthorsdottir, Valgerdur, additional, Frigge, Michael L, additional, Blondal, Thorarinn, additional, Saemundsdottir, Jona, additional, Bjarnason, Hjördis, additional, Kristjansson, Kristleifur, additional, Bjornsdottir, Gyda, additional, Okamoto, Ichiro, additional, Rivoltini, Licia, additional, Rodolfo, Monica, additional, Kiemeney, Lambertus A, additional, Hansson, Johan, additional, Nagore, Eduardo, additional, Mayordomo, José I, additional, Kumar, Rajiv, additional, Karagas, Margaret R, additional, Nelson, Heather H, additional, Gulcher, Jeffrey R, additional, Rafnar, Thorunn, additional, Thorsteinsdottir, Unnur, additional, Olafsson, Jon H, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2009
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22. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

Author

Rafnar, Thorunn, primary, Sulem, Patrick, additional, Stacey, Simon N, additional, Geller, Frank, additional, Gudmundsson, Julius, additional, Sigurdsson, Asgeir, additional, Jakobsdottir, Margret, additional, Helgadottir, Hafdis, additional, Thorlacius, Steinunn, additional, Aben, Katja K H, additional, Blöndal, Thorarinn, additional, Thorgeirsson, Thorgeir E, additional, Thorleifsson, Gudmar, additional, Kristjansson, Kristleifur, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Sigurgeirsson, Bardur, additional, Skuladottir, Halla, additional, Gudbjartsson, Tomas, additional, Isaksson, Helgi J, additional, Einarsson, Gudmundur V, additional, Benediktsdottir, Kristrun R, additional, Agnarsson, Bjarni A, additional, Olafsson, Karl, additional, Salvarsdottir, Anna, additional, Bjarnason, Hjordis, additional, Asgeirsdottir, Margret, additional, Kristinsson, Kari T, additional, Matthiasdottir, Sigurborg, additional, Sveinsdottir, Steinunn G, additional, Polidoro, Silvia, additional, Höiom, Veronica, additional, Botella-Estrada, Rafael, additional, Hemminki, Kari, additional, Rudnai, Peter, additional, Bishop, D Timothy, additional, Campagna, Marcello, additional, Kellen, Eliane, additional, Zeegers, Maurice P, additional, de Verdier, Petra, additional, Ferrer, Ana, additional, Isla, Dolores, additional, Vidal, Maria Jesus, additional, Andres, Raquel, additional, Saez, Berta, additional, Juberias, Pablo, additional, Banzo, Javier, additional, Navarrete, Sebastian, additional, Tres, Alejandro, additional, Kan, Donghui, additional, Lindblom, Annika, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, de Vegt, Femmie, additional, Schalken, Jack A, additional, van der Heijden, Henricus F M, additional, Smit, Hans J, additional, Termeer, René A, additional, Oosterwijk, Egbert, additional, van Hooij, Onno, additional, Nagore, Eduardo, additional, Porru, Stefano, additional, Steineck, Gunnar, additional, Hansson, Johan, additional, Buntinx, Frank, additional, Catalona, William J, additional, Matullo, Giuseppe, additional, Vineis, Paolo, additional, Kiltie, Anne E, additional, Mayordomo, José I, additional, Kumar, Rajiv, additional, Kiemeney, Lambertus A, additional, Frigge, Michael L, additional, Jonsson, Thorvaldur, additional, Saemundsson, Hafsteinn, additional, Barkardottir, Rosa B, additional, Jonsson, Eirikur, additional, Jonsson, Steinn, additional, Olafsson, Jon H, additional, Gulcher, Jeffrey R, additional, Masson, Gisli, additional, Gudbjartsson, Daniel F, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2009
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23. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

Author

Stacey, Simon N, primary, Gudbjartsson, Daniel F, additional, Sulem, Patrick, additional, Bergthorsson, Jon T, additional, Kumar, Rajiv, additional, Thorleifsson, Gudmar, additional, Sigurdsson, Asgeir, additional, Jakobsdottir, Margret, additional, Sigurgeirsson, Bardur, additional, Benediktsdottir, Kristrun R, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Scherer, Dominique, additional, Rudnai, Peter, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, Höiom, Veronica, additional, Botella-Estrada, Rafael, additional, Soriano, Virtudes, additional, Juberías, Pablo, additional, Grasa, Matilde, additional, Carapeto, Francisco J, additional, Tabuenca, Pilar, additional, Gilaberte, Yolanda, additional, Gudmundsson, Julius, additional, Thorlacius, Steinunn, additional, Helgason, Agnar, additional, Thorlacius, Theodora, additional, Jonasdottir, Aslaug, additional, Blondal, Thorarinn, additional, Gudjonsson, Sigurjon A, additional, Jonsson, Gudbjörn F, additional, Saemundsdottir, Jona, additional, Kristjansson, Kristleifur, additional, Bjornsdottir, Gyda, additional, Sveinsdottir, Steinunn G, additional, Mouy, Magali, additional, Geller, Frank, additional, Nagore, Eduardo, additional, Mayordomo, José I, additional, Hansson, Johan, additional, Rafnar, Thorunn, additional, Kong, Augustine, additional, Olafsson, Jon H, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2008
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24. Erratum: Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Author

Gudbjartsson, Daniel F, primary, Sulem, Patrick, additional, Stacey, Simon N, additional, Goldstein, Alisa M, additional, Rafnar, Thorunn, additional, Sigurgeirsson, Bardur, additional, Benediktsdottir, Kristrun R, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Sveinsdottir, Steinunn G, additional, Magnusson, Veronica, additional, Lindblom, Annika, additional, Kostulas, Konstantinos, additional, Botella-Estrada, Rafael, additional, Soriano, Virtudes, additional, Juberías, Pablo, additional, Grasa, Matilde, additional, Saez, Berta, additional, Andres, Raquel, additional, Scherer, Dominique, additional, Rudnai, Peter, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, Kiemeney, Lambertus A, additional, Jakobsdottir, Margret, additional, Steinberg, Stacy, additional, Helgason, Agnar, additional, Gretarsdottir, Solveig, additional, Tucker, Margaret A, additional, Mayordomo, José I, additional, Nagore, Eduardo, additional, Kumar, Rajiv, additional, Hansson, Johan, additional, Olafsson, Jon H, additional, Gulcher, Jeffrey, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2008
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25. Two newly identified genetic determinants of pigmentation in Europeans

Author

Sulem, Patrick, primary, Gudbjartsson, Daniel F, additional, Stacey, Simon N, additional, Helgason, Agnar, additional, Rafnar, Thorunn, additional, Jakobsdottir, Margret, additional, Steinberg, Stacy, additional, Gudjonsson, Sigurjon A, additional, Palsson, Arnar, additional, Thorleifsson, Gudmar, additional, Pálsson, Snæbjörn, additional, Sigurgeirsson, Bardur, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Benediktsdottir, Kristrun R, additional, Aben, Katja K, additional, Vermeulen, Sita H, additional, Goldstein, Alisa M, additional, Tucker, Margaret A, additional, Kiemeney, Lambertus A, additional, Olafsson, Jon H, additional, Gulcher, Jeffrey, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2008
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26. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Author

Gudbjartsson, Daniel F, primary, Sulem, Patrick, additional, Stacey, Simon N, additional, Goldstein, Alisa M, additional, Rafnar, Thorunn, additional, Sigurgeirsson, Bardur, additional, Benediktsdottir, Kristrun R, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Sveinsdottir, Steinunn G, additional, Magnusson, Veronica, additional, Lindblom, Annika, additional, Kostulas, Konstantinos, additional, Botella-Estrada, Rafael, additional, Soriano, Virtudes, additional, Juberías, Pablo, additional, Grasa, Matilde, additional, Saez, Berta, additional, Andres, Raquel, additional, Scherer, Dominique, additional, Rudnai, Peter, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, Kiemeney, Lambertus A, additional, Jakobsdottir, Margret, additional, Steinberg, Stacy, additional, Helgason, Agnar, additional, Gretarsdottir, Solveig, additional, Tucker, Margaret A, additional, Mayordomo, José I, additional, Nagore, Eduardo, additional, Kumar, Rajiv, additional, Hansson, Johan, additional, Olafsson, Jon H, additional, Gulcher, Jeffrey, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2008
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27. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Rafnar, Thorunn, additional, Bergthorsson, Jon T, additional, Manolescu, Andrei, additional, Gudbjartsson, Daniel, additional, Agnarsson, Bjarni A, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Blondal, Thorarinn, additional, Jakobsdottir, Margret, additional, Stacey, Simon N, additional, Kostic, Jelena, additional, Kristinsson, Kari T, additional, Birgisdottir, Birgitta, additional, Ghosh, Shyamali, additional, Magnusdottir, Droplaug N, additional, Thorlacius, Steinunn, additional, Thorleifsson, Gudmar, additional, Zheng, S Lilly, additional, Sun, Jielin, additional, Chang, Bao-Li, additional, Elmore, J Bradford, additional, Breyer, Joan P, additional, McReynolds, Kate M, additional, Bradley, Kevin M, additional, Yaspan, Brian L, additional, Wiklund, Fredrik, additional, Stattin, Par, additional, Lindström, Sara, additional, Adami, Hans-Olov, additional, McDonnell, Shannon K, additional, Schaid, Daniel J, additional, Cunningham, Julie M, additional, Wang, Liang, additional, Cerhan, James R, additional, St Sauver, Jennifer L, additional, Isaacs, Sara D, additional, Wiley, Kathleen E, additional, Partin, Alan W, additional, Walsh, Patrick C, additional, Polo, Sonia, additional, Ruiz-Echarri, Manuel, additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Saez, Berta, additional, Godino, Javier, additional, Weijerman, Philip C, additional, Swinkels, Dorine W, additional, Aben, Katja K, additional, Witjes, J Alfred, additional, Suarez, Brian K, additional, Helfand, Brian T, additional, Frigge, Michael L, additional, Kristjansson, Kristleifur, additional, Ober, Carole, additional, Jonsson, Eirikur, additional, Einarsson, Gudmundur V, additional, Xu, Jianfeng, additional, Gronberg, Henrik, additional, Smith, Jeffrey R, additional, Thibodeau, Stephen N, additional, Isaacs, William B, additional, Catalona, William J, additional, Mayordomo, Jose I, additional, Kiemeney, Lambertus A, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2008
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28. Genetic determinants of hair, eye and skin pigmentation in Europeans

Author

Sulem, Patrick, primary, Gudbjartsson, Daniel F, additional, Stacey, Simon N, additional, Helgason, Agnar, additional, Rafnar, Thorunn, additional, Magnusson, Kristinn P, additional, Manolescu, Andrei, additional, Karason, Ari, additional, Palsson, Arnar, additional, Thorleifsson, Gudmar, additional, Jakobsdottir, Margret, additional, Steinberg, Stacy, additional, Pálsson, Snæbjörn, additional, Jonasson, Fridbert, additional, Sigurgeirsson, Bardur, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Benediktsdottir, Kristrun R, additional, Aben, Katja K, additional, Kiemeney, Lambertus A, additional, Olafsson, Jon H, additional, Gulcher, Jeffrey, additional, Kong, Augie, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2007
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29. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Steinthorsdottir, Valgerdur, additional, Bergthorsson, Jon T, additional, Thorleifsson, Gudmar, additional, Manolescu, Andrei, additional, Rafnar, Thorunn, additional, Gudbjartsson, Daniel, additional, Agnarsson, Bjarni A, additional, Baker, Adam, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Jakobsdottir, Margret, additional, Blondal, Thorarinn, additional, Stacey, Simon N, additional, Helgason, Agnar, additional, Gunnarsdottir, Steinunn, additional, Olafsdottir, Adalheidur, additional, Kristinsson, Kari T, additional, Birgisdottir, Birgitta, additional, Ghosh, Shyamali, additional, Thorlacius, Steinunn, additional, Magnusdottir, Dana, additional, Stefansdottir, Gerdur, additional, Kristjansson, Kristleifur, additional, Bagger, Yu, additional, Wilensky, Robert L, additional, Reilly, Muredach P, additional, Morris, Andrew D, additional, Kimber, Charlotte H, additional, Adeyemo, Adebowale, additional, Chen, Yuanxiu, additional, Zhou, Jie, additional, So, Wing-Yee, additional, Tong, Peter C Y, additional, Ng, Maggie C Y, additional, Hansen, Torben, additional, Andersen, Gitte, additional, Borch-Johnsen, Knut, additional, Jorgensen, Torben, additional, Tres, Alejandro, additional, Fuertes, Fernando, additional, Ruiz-Echarri, Manuel, additional, Asin, Laura, additional, Saez, Berta, additional, van Boven, Erica, additional, Klaver, Siem, additional, Swinkels, Dorine W, additional, Aben, Katja K, additional, Graif, Theresa, additional, Cashy, John, additional, Suarez, Brian K, additional, van Vierssen Trip, Onco, additional, Frigge, Michael L, additional, Ober, Carole, additional, Hofker, Marten H, additional, Wijmenga, Cisca, additional, Christiansen, Claus, additional, Rader, Daniel J, additional, Palmer, Colin N A, additional, Rotimi, Charles, additional, Chan, Juliana C N, additional, Pedersen, Oluf, additional, Sigurdsson, Gunnar, additional, Benediktsson, Rafn, additional, Jonsson, Eirikur, additional, Einarsson, Gudmundur V, additional, Mayordomo, Jose I, additional, Catalona, William J, additional, Kiemeney, Lambertus A, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2007
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30. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Manolescu, Andrei, additional, Amundadottir, Laufey T, additional, Gudbjartsson, Daniel, additional, Helgason, Agnar, additional, Rafnar, Thorunn, additional, Bergthorsson, Jon T, additional, Agnarsson, Bjarni A, additional, Baker, Adam, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Jakobsdottir, Margret, additional, Xu, Jianfeng, additional, Blondal, Thorarinn, additional, Kostic, Jelena, additional, Sun, Jielin, additional, Ghosh, Shyamali, additional, Stacey, Simon N, additional, Mouy, Magali, additional, Saemundsdottir, Jona, additional, Backman, Valgerdur M, additional, Kristjansson, Kristleifur, additional, Tres, Alejandro, additional, Partin, Alan W, additional, Albers-Akkers, Marjo T, additional, Godino-Ivan Marcos, Javier, additional, Walsh, Patrick C, additional, Swinkels, Dorine W, additional, Navarrete, Sebastian, additional, Isaacs, Sarah D, additional, Aben, Katja K, additional, Graif, Theresa, additional, Cashy, John, additional, Ruiz-Echarri, Manuel, additional, Wiley, Kathleen E, additional, Suarez, Brian K, additional, Witjes, J Alfred, additional, Frigge, Mike, additional, Ober, Carole, additional, Jonsson, Eirikur, additional, Einarsson, Gudmundur V, additional, Mayordomo, Jose I, additional, Kiemeney, Lambertus A, additional, Isaacs, William B, additional, Catalona, William J, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2007
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32. A common variant associated with prostate cancer in European and African populations

Author

Amundadottir, Laufey T, primary, Sulem, Patrick, additional, Gudmundsson, Julius, additional, Helgason, Agnar, additional, Baker, Adam, additional, Agnarsson, Bjarni A, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Cazier, Jean-Baptiste, additional, Sainz, Jesus, additional, Jakobsdottir, Margret, additional, Kostic, Jelena, additional, Magnusdottir, Droplaug N, additional, Ghosh, Shyamali, additional, Agnarsson, Kari, additional, Birgisdottir, Birgitta, additional, Le Roux, Louise, additional, Olafsdottir, Adalheidur, additional, Blondal, Thorarinn, additional, Andresdottir, Margret, additional, Gretarsdottir, Olafia Svandis, additional, Bergthorsson, Jon T, additional, Gudbjartsson, Daniel, additional, Gylfason, Arnaldur, additional, Thorleifsson, Gudmar, additional, Manolescu, Andrei, additional, Kristjansson, Kristleifur, additional, Geirsson, Gudmundur, additional, Isaksson, Helgi, additional, Douglas, Julie, additional, Johansson, Jan-Erik, additional, Bälter, Katarina, additional, Wiklund, Fredrik, additional, Montie, James E, additional, Yu, Xiaoying, additional, Suarez, Brian K, additional, Ober, Carole, additional, Cooney, Kathleen A, additional, Gronberg, Henrik, additional, Catalona, William J, additional, Einarsson, Gudmundur V, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2006
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33. Quantitative DNA perturbations of p53 in endometriosis: analysis of American and Icelandic cases

Author

Gylfason, Jon Torfi, primary, Dang, Dianne, additional, Petursdottir, Vigdis, additional, Benediktsdottir, Kristrun R., additional, Geirsson, Reynir T., additional, Poindexter, Alfred, additional, Mitchell-Leef, Dorothy, additional, Buster, John E., additional, Carson, Sandra A., additional, Simpson, Joe Leigh, additional, and Bischoff, Farideh Z., additional

Published
2005
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35. Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population-Based Nested Case-Control Study, Systematic Review, and Meta-analysis.

Author

Collin, Simon M., Metcalfe, Chris, Zuccolo, Luisa, Lewis, Sarah J., Chen, Lina, Cox, Angela, Davis, Michael, Lane, J. Athene, Donovan, Jenny, Smith, George Davey, Neal, David E., Hamdy, Freddie C., Gudmundsson, Julius, Sulem, Patrick, Rafnar, Thorunn, Benediktsdottir, Kristrun R., Eeles, Rosalind A., Guy, Michelle, Kote-Jarai, Zsofia, and Morrison, Jonathan

Abstract

The article offers a meta-analysis of associations among polymorphisms in the folate metabolic pathway and prostate cancer. It mentions that data from four genome-wide association studies and from a case-control study conducted within the Prostate Testing for Cancer and Treatment study. It mentions that the analysis intends to determine whether the folate metabolic pathway has a role in prostate cancer.

Published
2009
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36. Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer.

Author

Bergthorsson, Jon T., Johannesdottir, Gudrun, Arason, Adalgeir, Benediktsdottir, Kristrun R., Agnarsson, Bjarni A., Bailey-Wilson, Joan E., Gillanders, Elizabeth, Smith, Jeffrey, Trent, Jeff, and Barkardottir, Rosa B.

Subjects
PROSTATE cancer, GENETIC disorders, PROSTATE diseases, HETEROGENEITY, GENETICS, ONCOLOGY
Abstract

Putative prostate cancer susceptibility loci have recently been identified by genetic linkage analysis on chromosomes 1q24–25 (HPC1), 1q44.2–43 (PCaP), and Xq27–28 (HPCX). In order to estimate the genetic linkage in Icelandic prostate cancer families, we genotyped 241 samples from 87 families with eleven markers in the HPC1 region, six markers at PCaP, and eight at HPCX. Concurrently, we assessed allelic imbalance at the HPC1 and PCaP loci in selected tumors from the patients. For each of the candidate regions, the combined parametric and non-parametric LOD scores were strongly negative. Evidence for linkage allowing for genetic heterogeneity was also insignificant for all the regions. The results were negative irrespective of whether calculations were performed for the whole material or for a selected set of early age at onset families. The prevalence of allelic imbalance was relatively low in both the HPC1 (0%–9%) and PCaP (5%–20%) regions and was not elevated in tumors from positively linked families. Our studies indicate that the putative cancer susceptibility genes at chromosomes 1q24–25, 1q44.2–43, and Xq27–28 are unlikely to contribute significantly to hereditary prostate cancer in Iceland and that selective loss of the HPC1 and PCaP loci is a relatively rare somatic event in prostate cancers. [ABSTRACT FROM AUTHOR]

Published
2000
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37. Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.

Author

Gudbjartsson, Daniel F, Sulem, Patrick, Stacey, Simon N, Goldstein, Alisa M, Rafnar, Thorunn, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R, Thorisdottir, Kristin, Ragnarsson, Rafn, Sveinsdottir, Steinunn G, Magnusson, Veronica, Lindblom, Annika, Kostulas, Konstantinos, Botella-Estrada, Rafael, Soriano, Virtudes, Juberías, Pablo, Grasa, Matilde, Saez, Berta, Andres, Raquel, and Scherer, Dominique

Subjects
ANIMAL coloration
Abstract

A correction to the article "ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma," that was published in the May 18, 2008 issue is presented.

Published
2008
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38. A variant in FTO shows association with melanoma risk not due to BMI.

Author

Iles MM, Law MH, Stacey SN, Han J, Fang S, Pfeiffer R, Harland M, Macgregor S, Taylor JC, Aben KK, Akslen LA, Avril MF, Azizi E, Bakker B, Benediktsdottir KR, Bergman W, Scarrà GB, Brown KM, Calista D, Chaudru V, Fargnoli MC, Cust AE, Demenais F, de Waal AC, Dębniak T, Elder DE, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Hopper JL, Ingvar C, Janssen M, Jenkins MA, Kanetsky PA, Kiemeney LA, Lang J, Lathrop GM, Leachman S, Lee JE, Lubiński J, Mackie RM, Mann GJ, Martin NG, Mayordomo JI, Molven A, Mulder S, Nagore E, Novaković S, Okamoto I, Olafsson JH, Olsson H, Pehamberger H, Peris K, Grasa MP, Planelles D, Puig S, Puig-Butille JA, Randerson-Moor J, Requena C, Rivoltini L, Rodolfo M, Santinami M, Sigurgeirsson B, Snowden H, Song F, Sulem P, Thorisdottir K, Tuominen R, Van Belle P, van der Stoep N, van Rossum MM, Wei Q, Wendt J, Zelenika D, Zhang M, Landi MT, Thorleifsson G, Bishop DT, Amos CI, Hayward NK, Stefansson K, Bishop JA, and Barrett JH

Subjects
Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Case-Control Studies, Cooperative Behavior, Female, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Obesity, Risk Factors, Body Mass Index, Genetic Loci genetics, Genetic Predisposition to Disease, Melanoma etiology, Polymorphism, Single Nucleotide genetics, Proteins genetics
Abstract

We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 × 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanoma-susceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.

Published
2013
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39. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

Author

Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexø BA, Tjønneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, García-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A, Sandler RS, Keku TO, Banasik K, Jørgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wiencke J, Jenkins RB, Nagore E, Vogel U, Kiemeney LA, Kumar R, Mayordomo JI, Olafsson JH, Kong A, Thorsteinsdottir U, Rafnar T, and Stefansson K

Subjects
Humans, Polymorphism, Single Nucleotide, Tumor Suppressor Protein p53 genetics, Genetic Predisposition to Disease, Germ-Line Mutation, Neoplasms genetics, Tumor Suppressor Protein p53 metabolism
Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).

Published
2011
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