A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

Autor: Srilakshmi Srinivasan, Thomas Kryza, Nathalie Bock, Brian W. C. Tse, Kamil A. Sokolowski, Panchadsaram Janaththani, Achala Fernando, Leire Moya, Carson Stephens, Ying Dong, Joan Röhl, Saeid Alinezhad, Ian Vela, Joanna L. Perry-Keene, Katie Buzacott, Robert Nica, The IMPACT Study, Manuela Gago-Dominguez, The PROFILE Study Steering Committee, Johanna Schleutker, Christiane Maier, Kenneth Muir, Catherine M. Tangen, Henrik Gronberg, Nora Pashayan, Demetrius Albanes, Alicja Wolk, Janet L. Stanford, Sonja I. Berndt, Lorelei A. Mucci, Stella Koutros, Olivier Cussenot, Karina Dalsgaard Sorensen, Eli Marie Grindedal, Ruth C. Travis, Christopher A. Haiman, Robert J. MacInnis, Ana Vega, Fredrik Wiklund, David E. Neal, Manolis Kogevinas, Kathryn L. Penney, Børge G. Nordestgaard, Hermann Brenner, Esther M. John, Marija Gamulin, Frank Claessens, Olle Melander, Anders Dahlin, Pär Stattin, Göran Hallmans, Christel Häggström, Robert Johansson, Elin Thysell, Ann-Charlotte Rönn, Weiqiang Li, Nigel Brown, Goce Dimeski, Benjamin Shepherd, Tokhir Dadaev, Mark N. Brook, Amanda B. Spurdle, Ulf-Håkan Stenman, Hannu Koistinen, Zsofia Kote-Jarai, Robert J. Klein, Hans Lilja, Rupert C. Ecker, Rosalind Eeles, The Practical Consortium, The Australian Prostate Cancer BioResource, Judith Clements, Jyotsna Batra

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Abstract Genetic variation at the 19q13.3 KLK locus is linked with prostate cancer susceptibility in men. The non-synonymous KLK3 single nucleotide polymorphism (SNP), rs17632542 (c.536 T > C; Ile163Thr-substitution in PSA) is associated with reduced

Externí odkaz: https://doaj.org/article/8eafcf751cfb463fb1624d18ac08892c

Cluster effect for SNP–SNP interaction pairs for predicting complex traits

Autor: Hui-Yi Lin, Harun Mazumder, Indrani Sarkar, Po-Yu Huang, Rosalind A. Eeles, Zsofia Kote-Jarai, Kenneth R. Muir, UKGPCS collaborators, Johanna Schleutker, Nora Pashayan, Jyotsna Batra, APCB (Australian Prostate Cancer BioResource), David E. Neal, Sune F. Nielsen, Børge G. Nordestgaard, Henrik Grönberg, Fredrik Wiklund, Robert J. MacInnis, Christopher A. Haiman, Ruth C. Travis, Janet L. Stanford, Adam S. Kibel, Cezary Cybulski, Kay-Tee Khaw, Christiane Maier, Stephen N. Thibodeau, Manuel R. Teixeira, Lisa Cannon-Albright, Hermann Brenner, Radka Kaneva, Hardev Pandha, The PRACTICAL consortium, Jong Y. Park

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)

Abstract Single nucleotide polymorphism (SNP) interactions are the key to improving polygenic risk scores. Previous studies reported several significant SNP–SNP interaction pairs that shared a common SNP to form a cluster, but some identified pairs

Externí odkaz: https://doaj.org/article/f6d6e2ec91c84df5bee4f5f2c347d676

Commentary on 'A large-scale analysis of genetic variants within putative miRNA binding sites in prostate cancer.' Stegeman S, Amankwah E, Klein K, O’Mara TA, Kim D, Lin HY, Permuth-Wey J, Sellers TA, Srinivasan S, Eeles R, Easton D, Kote-Jarai Z, Amin Al Olama A, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pharoah P, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Kaneva R, Teixeira MR, PRACTICAL Consortium, Australian Prostate Cancer BioResource, Spurdle AB, Clements JA, Park JY, Batra J, University of Washington—Urology, Seattle, WA . Cancer Discov 2015; 5(4):368-79

Autor: Daniel, Lin

Publikováno v: Urologic Oncology: Seminars and Original Investigations. 34:522-523

Prostate cancer is the second most common malignancy among men worldwide. Genome-wide association studies (GWAS) have identified 100 risk variants for prostate cancer, which can explain ~33% of the familial risk of the disease. We hypothesized that a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e2b264c65aba4c61a52cd403923d9a
https://doi.org/10.1016/j.urolonc.2016.02.008

The effect of sample size on polygenic hazard models for prostate cancer

Autor: Karunamuni, Roshan A, Huynh-Le, Minh-Phuong, Fan, Chun C, Eeles, Rosalind A, Easton, Douglas F, Kote-Jarai, ZSofia, Amin Al Olama, Ali, Benlloch Garcia, Sara, Muir, Kenneth, Gronberg, Henrik, Wiklund, Fredrik, Aly, Markus, Schleutker, Johanna, Sipeky, Csilla, Tammela, Teuvo LJ, Nordestgaard, Børge G, Key, Tim J, Travis, Ruth C, Neal, David E, Donovan, Jenny L, Hamdy, Freddie C, Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Thibodeau, Stephen N, McDonnell, Shannon K, Schaid, Daniel J, Maier, Christiane, Vogel, Walther, Luedeke, Manuel, Herkommer, Kathleen, Kibel, Adam S, Cybulski, Cezary, Wokolorczyk, Dominika, Kluzniak, Wojciech, Cannon-Albright, Lisa, Brenner, Hermann, Schöttker, Ben, Holleczek, Bernd, Park, Jong Y, Sellers, Thomas A, Lin, Hui-Yi, Slavov, Chavdar, Kaneva, Radka, Mitev, Vanio, Batra, Jyotsna, Clements, Judith A, Spurdle, Amanda, Australian Prostate Cancer BioResource (APCB), Teixeira, Manuel R, Paulo, Paula, Maia, Sofia, Pandha, Hardev, Michael, Agnieszka, Mills, Ian G, Andreassen, Ole A, Dale, Anders M, Seibert, Tyler M, PRACTICAL Consortium

Publikováno v: European journal of human genetics : EJHG, vol 28, iss 10

We determined the effect of sample size on performance of polygenic hazard score (PHS) models in prostate cancer. Age and genotypes were obtained for 40,861 men from the PRACTICAL consortium. The dataset included 201,590 SNPs per subject, and was spl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c0cee5af62a3f14ac839a3238e89d6a1
https://escholarship.org/uc/item/6rq0c7z3

A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer.

Autor: Srinivasan S; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; Centre for Genomic and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia., Kryza T; Mater Research Institute - The University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, QLD, Australia., Bock N; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Tse BWC; Preclinical Imaging Facility, Translational Research Institute, Woolloongabba, Brisbane, QLD, Australia., Sokolowski KA; Preclinical Imaging Facility, Translational Research Institute, Woolloongabba, Brisbane, QLD, Australia., Janaththani P; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Melbourne, VIC, Australia., Fernando A; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; Centre for Genomic and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia., Moya L; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Stephens C; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Dong Y; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Röhl J; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Faculty of Health Sciences and Medicine, Bond University, 14 University Drive, Robina, QLD, 4226, Australia., Alinezhad S; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Vela I; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Department of Urology, Princess Alexandra Hospital, Brisbane, Woolloongabba, Brisbane, QLD, Australia., Perry-Keene JL; Pathology Queensland, Sunshine Coast University Hospital Laboratory, Birtinya, Sunshine Coast, QLD, Australia., Buzacott K; Pathology Queensland, Sunshine Coast University Hospital Laboratory, Birtinya, Sunshine Coast, QLD, Australia., Nica R; TissueGnostics GmbH, Vienna, Austria., Gago-Dominguez M; Health Research Institute of Santiago de Compostela (IDIS), Galicia Public Foundation IDIS, SERGAS, Cancer Genetics and Epidemiology Group, Genomic Medicine Group, Santiago de Compostela, Spain., Schleutker J; Institute of Biomedicine, Kiinamyllynkatu 10, FI-20014 University of Turku, Turku, Finland.; Department of Medical Genetics, Genomics, Laboratory Division, Turku University Hospital, PO Box 52, 20521, Turku, Finland., Maier C; Humangenetik Tuebingen, Paul-Ehrlich-Str 23, D-72076, Tuebingen, Germany., Muir K; Division of Population Health, Health Services Research and Primary Care, University of Manchester, Manchester, M13 9PL, UK., Tangen CM; SWOG Statistical Center, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Gronberg H; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, SE-171 77, Stockholm, Sweden., Pashayan N; Department of Applied Health Research, University College London, London, WC1E 7HB, UK.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK., Albanes D; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, 20892, USA., Wolk A; Institute of Environmental Medicine, Karolinska Institutet, 177 77, Stockholm, Sweden., Stanford JL; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.; Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA, 98195, USA., Berndt SI; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, 20892, USA., Mucci LA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, 02115, USA., Koutros S; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, 20892, USA., Cussenot O; CeRePP, Tenon Hospital, F-75020, Paris, France.; Sorbonne Universite, GRC n°5, AP-HP, Tenon Hospital, 4 rue de la Chine, F-75020, Paris, France., Sorensen KD; Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensen Boulevard 99, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, DK-8200, Aarhus N., Denmark., Grindedal EM; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway., Travis RC; Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK., Haiman CA; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, CA, 90015, USA., MacInnis RJ; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Grattan Street, Parkville, VIC, 3010, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, 615 St Kilda Road, Melbourne, VIC, 3004, Australia., Vega A; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, 15706, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, 15706, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain., Wiklund F; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, SE-171 77, Stockholm, Sweden., Neal DE; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, England.; University of Cambridge, Department of Oncology, Box 279, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, UK.; Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Cambridge, CB2 0RE, UK., Kogevinas M; ISGlobal, Barcelona Institute for Global Health, Barcelona, Spain.; IMIM (Hospital del Mar Research Institute), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; CIBER Epidemiología y Salud Pública (CIBERESP), 28029, Madrid, Spain., Penney KL; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, 02115, USA., Nordestgaard BG; Faculty of Health and Medical Sciences, University of Copenhagen, 2200, Copenhagen, Denmark.; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2200, Copenhagen, Denmark., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), D-69120, Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), D-69120, Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 460, 69120, Heidelberg, Germany., John EM; Departments of Epidemiology & Population Health and of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, 94304, USA., Gamulin M; School of Medicine, University of Zagreb, Salata 3, 10 000, Zagreb, Croatia., Claessens F; Molecular Endocrinology Laboratory, Department of Cellular and Molecular Medicine, KU Leuven, BE-3000, Belgium., Melander O; Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden., Dahlin A; Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden., Stattin P; Institute of Environmental Medicine, Karolinska Institutet, 177 77, Stockholm, Sweden., Hallmans G; Department of Public Health and Clinical Medicine, Nutritional Research, Umeå University, Umeå, Sweden., Häggström C; The Biobank Research Unit, Umeå University, Umeå, Sweden., Johansson R; The Biobank Research Unit, Umeå University, Umeå, Sweden., Thysell E; Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden., Rönn AC; Translational Analysis in Molecular Medicine, Karolinska University Hospital, Huddinge, Sweden., Li W; Icahn Institute for Data Science and Genome Technology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brown N; Department of Chemical Pathology, Pathology Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia., Dimeski G; Department of Chemical Pathology, Pathology Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia., Shepherd B; Department of Anatomical Pathology, Pathology Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia., Dadaev T; The Institute of Cancer Research, London, SM2 5NG, UK., Brook MN; The Institute of Cancer Research, London, SM2 5NG, UK., Spurdle AB; Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Herston, Brisbane, QLD, Australia., Stenman UH; Department of Clinical Chemistry and Haematology, University of Helsinki, Helsinki, Finland., Koistinen H; Department of Clinical Chemistry and Haematology, University of Helsinki, Helsinki, Finland.; HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland., Kote-Jarai Z; The Institute of Cancer Research, London, SM2 5NG, UK.; Royal Marsden NHS Foundation Trust, London, UK., Klein RJ; Icahn Institute for Data Science and Genome Technology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Lilja H; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Surgery (Urology Service) and Medicine (Genitourinary Oncology), Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Translational Medicine, Lund University, Malmö, Sweden., Ecker RC; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; TissueGnostics GmbH, Vienna, Austria., Eeles R; The Institute of Cancer Research, London, SM2 5NG, UK.; Royal Marsden NHS Foundation Trust, London, UK., Clements J; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Batra J; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia. jyotsna.batra@qut.edu.au.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia. jyotsna.batra@qut.edu.au.; Centre for Genomic and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia. jyotsna.batra@qut.edu.au.

Publikováno v: Nature communications [Nat Commun] 2024 Nov 06; Vol. 15 (1), pp. 9587. Date of Electronic Publication: 2024 Nov 06.