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Record W4404108697 · doi:10.1038/s41467-024-52472-6

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

2024· article· en· W4404108697 on OpenAlexaff
Srilakshmi Srinivasan, Thomas Kryza, Nathalie Bock, Brian Wan-Chi Tse, Kamil A. Sokolowski, Janaththani Panchadsaram, Achala Fernando, Leire Moya, Carson Stephens, Ying Dong, Joan Röhl, Saeid Alinezhad, Ian Vela, Joanna Perry‐Keene, Katie Buzacott, Robert Nica, Elizabeth Bancroft, Elizabeth Page, Audrey Ardern‐Jones, Chris Bangma, Elena Castro, David P. Dearnaley, Diana Eccles, D. Gareth Evans, Jórunn E. Eyfjörd, Alison Falconer, Christopher S. Foster, Freddie C. Hamdy, Óskar Þór Jóhannsson, Vincent Khoo, Geoffrey J. Lindeman, Jan Lubiński, Lovise Mæhle, Christos Mikropoulos, Anita Mitra, Clare Moynihan, Judith Offman, Gad Rennert, Lucy Side, Mohnish Suri, Penny Wilson, Manuela Gago-Domínguez, Pardeep Kumar, Antonis C. Antoniou, Jana McHugh, Holly Ní Raghallaigh, R. R. Hall, Natalie Taylor, Sarah Thomas, Kathryn Myhill, Matthew Hogben, Eva McGrowder, Diana Keating, Denzil James, Syed Arshad Hussain, Angela Wood, Nening M. Dennis, Paul Ardern-Jones, N. van As, Steve Hazell, Sarah J. Lewis, Paul D.P. Pharoah, J. Schalken, Aslam Sohaib, Nandita de Souza, Paul Cathcart, Frank Chingewundoh, Jeff Bamber, Alexander Dias, Christos Mikropolis, Sibel Saya, Anne-Marie Borges Da Silva, Lucia D’Mello, Sue Moss, J Melia, Netty Kinsella, Justyna Sobczak, Naami Mcaddy, David Nicol, Chris Ogden, Declan Cahill, Alan Thompson, Christopher Woodhouse, Vincent J. Gnanapragasam, Colin Cooper, Jeremy Clark, Johanna Schleutker, Christiane Maier, Kenneth Muir, Catherine M. Tangen, Henrik Grönberg, Nora Pashayan, Demetrius Albanes, Alicja Wolk, Janet L. Stanford, S.I. Berndt, Lorelei A. Mucci, Stella Koutros, Olivier Cussenot, Karina D. Sørensen, 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 N. 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 Ecker, Rosalind A. Eeles, Fredrick R. Schumacher, Sara Benlloch, Ali Amin Al Olama, Stephen Chanock, Ying Wang, Stephanie J. Weinstein, Catharine West, Géraldine Cancel‐Tassin, Jenny L. Donovan, Robert J. Hamilton, Sue A. Ingles, Barry S. Rosenstein, Yong‐Jie Lu, Graham G. Giles, Adam S. Kibel, Jong Y. Park, Cezary Cybulski, Sune F. Nielsen, Jeri Kim, Manuel R. Teixeira, Susan L. Neuhausen, Kim De Ruyck, Azad Razack, Lisa F. Newcomb, Davor Lessel, Radka Kaneva, Nawaid Usmani, Paul A. Townsend, Jose E. Castelao, F. Ménégaux, Kay-Tee Khaw, Lisa Cannon‐Albright, Hardev Pandha, S. N. Thibodeau, Peter Kraft, William J. Blot, Artitaya Lophatananon, Phyllis J. Goodman, Ian M. Thompson, Tobias Nordström, Alison M. Dunning, Teuvo L.J. Tammela, Anssi Auvinen, Niclas Håkansson, Gerald L. Andriole, Robert N. Hoover, Mitchell J. Machiela, Edward L. Giovannucci, Laura E. Beane Freeman, Michael Borre, Timothy J. Key, Loı̈c Le Marchand, Xin Sheng, Melissa C. Southey, Roger L. Milne, Antonio Gómez‐Caamaño, Laura Fachal, Martin Eklund, Trinidad Dierssen‐Sotos, Gemma Castaño‐Vinyals, Antonio Alcaraz, Sara Lindström, Meir J. Stampfer, Stig E. Bojesen, Hein Vincent Stroomberg, Martin Andreas Røder, Xin Gao, Bernd Holleczek, Ben Schöttker, Josef Hoegel, Thomas Schnoeller, Tomislav Kuliš, Steven Joniau, Maria Elena Martinez, Markus Aly, Wayne D. Tilley, Gail P. Risbridger, Lisa G. Horvath, Renea A. Taylor, Lisa M. Butler, Anne-Maree Haynes, Melissa Papargiris, Judith A. Clements, Jyotsna Batra

Bibliographic record

VenueNature Communications · 2024
Typearticle
Languageen
FieldMedicine
TopicProstate Cancer Treatment and Research
Canadian institutionsUniversity of AlbertaPrincess Margaret Cancer CentreUniversity of Toronto
FundersInstituto de Salud Carlos IIICancer Council QueenslandMedical Research CouncilRosetrees TrustNational Institutes of HealthVedecká Grantová Agentúra MŠVVaŠ SR a SAVSigrid Juséliuksen SäätiöQueensland GovernmentU.S. Department of DefenseUmeå UniversitetNational Institute for Health and Care ResearchMagnus Ehrnroothin SäätiöCancerfondenFundación Mutua MadrileñaProstate Cancer Foundation of AustraliaRoyal Marsden NHS Foundation TrustAdvance QueenslandProstate Cancer FoundationAustralian Prostate Cancer ResearchMovember FoundationNational Health and Medical Research CouncilCancer Research UKMater FoundationVetenskapsrådetAustralian GovernmentNational Cancer InstituteKnut och Alice Wallenbergs Stiftelse
KeywordsProstate cancerSNPOutcome (game theory)Function (biology)CancerProstateOncologyMedicineBiologyInternal medicineBioinformaticsSingle-nucleotide polymorphismGeneticsGeneGenotype

Abstract

fetched live from OpenAlex

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 prostate cancer risk, however, the functional relevance is unknown. Here, we identify that the SNP variant-induced change in PSA biochemical activity mediates prostate cancer pathogenesis. The 'Thr' PSA variant leads to small subcutaneous tumours, supporting reduced prostate cancer risk. However, 'Thr' PSA also displays higher metastatic potential with pronounced osteolytic activity in an experimental metastasis in-vivo model. Biochemical characterisation of this PSA variant demonstrates markedly reduced proteolytic activity that correlates with differences in in-vivo tumour burden. The SNP is associated with increased risk for aggressive disease and prostate cancer-specific mortality in three independent cohorts, highlighting its critical function in mediating metastasis. Carriers of this SNP allele have reduced serum total PSA and a higher free/total PSA ratio that could contribute to late biopsy decisions and delay in diagnosis. Our results provide a molecular explanation for the prominent 19q13.3 KLK locus, rs17632542 SNP, association with a spectrum of prostate cancer clinical outcomes.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.054
GPT teacher head0.420
Teacher spread0.366 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations11
Published2024
Admission routes1
Has abstractyes

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Same venueNature CommunicationsSame topicProstate Cancer Treatment and ResearchFrench-language works237,207