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Record W4320856410 · doi:10.1002/mds.29337

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

2023· review· en· W4320856410 on OpenAlexafffund
Pierre‐Emmanuel Sugier, Elise A. Lucotte, Cloé Domenighetti, Matthew H. Law, Mark M. Iles, Kevin M. Brown, Christopher I. Amos, James McKay, Mojgan Karimi, Delphine Bacq‐Daian, Anne Boland, Robert Olaso, Jean‐François Deleuze, Fabienne Lesueur, Evgenia Ostroumova, Ausrele Kesminiene, Florent de Vathaire, Pascal Guénel, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Patrick May, Dheeraj Reddy Bobbili, Milena Radivojkov‐Blagojevic, Peter Lichtner, Andrew Singleton, Dena G. Hernandez, Connor Edsall, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Kõks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean‐Christophe Corvol, Marie‐Christine Chartier‐Harlin, Eugénie Mutez, Kathrin Brockmann, Angela Deutschländer, G. Hadjigeorgiou, Efthimios Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Akiyoshi Nakayama, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart P.C. van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrøm, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pástor, Mónica Díez-Fairén, Karin Wirdefeldt, Nancy L. Pedersen, Caroline Ran, Andrea Carmine Belin, Andreas Puschmann, Emil Ygland, Carl E Clarke, Karen Morrison, Manuela Tan, Dimitri Krainc, Lena F. Burbulla, Matthew J. Farrer, Rejko Krüger, Thomas Gasser, Manu Sharma, Thérèse Truong, Alexis Elbaz

Bibliographic record

VenueMovement Disorders · 2023
Typereview
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsOntario Brain InstituteToronto Western HospitalLunenfeld-Tanenbaum Research InstituteOccupational Cancer Research CentreSinai Health SystemPublic Health OntarioUniversity of Toronto
FundersDivision of Arctic SciencesInstitute of Cancer ResearchNational Cancer InstituteNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteFP7 HealthCancer Council VictoriaCanadian Institutes of Health ResearchSeventh Framework ProgrammeDivision of Cancer Epidemiology and Genetics, National Cancer InstituteParkinsonfondenVetenskapsrådetLunds UniversitetVicHealthLigue Contre le CancerNational Institute for Health and Care ResearchWellcome TrustWorld Health OrganizationCancer Research UKGovernment of CanadaPancreatic Cancer UKCNIBInstitut National de la Santé et de la Recherche MédicaleEU Joint Programme – Neurodegenerative Disease ResearchNational Institute on Handicapped ResearchSwedish Cancer FoundationInternational Parkinson and Movement Disorder SocietyCentre International de Recherche sur le CancerNational Institutes of HealthRosetrees TrustEuropean CommissionU.S. Department of DefenseBreast Cancer Research FoundationOvarian Cancer Research FundSkånes universitetssjukhusNational Cancer Research Institute
KeywordsGenome-wide association studyProstate cancerOncologyLinkage disequilibriumCancerMedicineBreast cancerGenetic associationOvarian cancerOdds ratioInternal medicineLung cancerDiseaseBioinformaticsGenotypeGeneticsSingle-nucleotide polymorphismBiology

Abstract

fetched live from OpenAlex

BACKGROUND: Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. OBJECTIVE: We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. METHODS: We used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses. RESULTS: = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driven by rs183211 located in an intron of the NSF gene (17q21.31). CONCLUSIONS: We show evidence in favor of a contribution of pleiotropic genes to the association between PD and specific cancers. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.555
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.057
GPT teacher head0.306
Teacher spread0.249 · 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 teacher head, not a consensus.

Study designObservational
Domainnot available
GenreReview

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

Citations27
Published2023
Admission routes2
Has abstractyes

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