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Record W4200155235 · doi:10.1038/s41467-021-26280-1

Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

2021· article· en· W4200155235 on OpenAlexaff
Catherine S. Storm, Demis A. Kia, Mona Mohammad Almramhi, Sara Bandrés‐Ciga, Chris Finan, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John P. Quinn, Vivien J. Bubb, Kin Y. Mok, Kerri J. Kinghorn, Patrick A. Lewis, Sebastian R. Schreglmann, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen Morrison, Carl E Clarke, Kirsten Harvey, Benjamin M. Jacobs, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Susanne A. Schneider, Mark Cookson, Cornelis Blauwendraat, David W. Craig, Kimberley J. Billingsley, Mary B. Makarious, Derek P. Narendra, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, José Brás, Rita Guerreiro, Steven Lubbe, Timothy Troycoco, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Ryan J. Uitti, Owen A. Ross, Francis P. Grenn, Anni Moore, Roy N. Alcalay, Zbigniew K. Wszołek, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Kheireddin Mufti, Jacobus J. van Hilten, Johan Marinus, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Mónica Díez-Fairén, Oriol Dols‐Icardo, Jacinto Duarte, Raquel Durán, Francisco Escamilla‐Sevilla, Mario Ezquerra, Cici Feliz, Manel Fernández, Rubén Fernández‐Santiago, Ciara García, Pedro Ruiz, Pilar Gómez‐Garre, María José Gómez Heredia, Isabel González Aramburu, Ana Gorostidi Pagola, Janet Hoenicka, Jon Infante, Silvia Jesús, Adriano Jiménez‐Escrig, Jaime Kulisevsky, Miguel A. Labrador‐Espinosa, José Luis López-Sendón, Adolfo López de Munaín Arregui, Daniel Macías, Irene Martínez‐Torres, Juan Marín‐Lahoz, Marı́a José Martı́, Juan Carlos Martínez‐Castrillo, Carlota Méndez‐del‐Barrio, Manuel Menéndez‐González, Marina Mata, Adolfo Mínguez‐Castellanos, Pablo Mir, Elisabet Mondragón Rezola, Esteban Muñoz, Javier Pagonabarraga, Pau Pástor, Francisco Pérez Errazquin, María Teresa Periñán, Javier Ruiz‐Martínez, Clara Ruz, A Rodríguez, María Sierra, Esther Suárez-Sanmartín, César Tabernero, Juan Pablo Tartari, Cristina Tejera‐Parrado, Eduard Tolosa, Francesc Valldeoriola, Laura Vargas‐González, Lydia Vela, Francisco Vives, Alexander Zimprich, Lasse Pihlstrøm, Mathias Toft, Pille Taba, Sulev Kõks, Sharon Hassin‐Baer, Kari Majamaa, Ari Siitonen, Pentti Tienari, Njideka Okubadejo, Oluwadamilola O. Ojo, Chingiz Shashkin, Nazira Zharkinbekova, Vadim Akhmetzhanov, Gulnaz Kaishybayeva, Altynay Karimova, Хайбуллин Т.Н., Timothy Lynch, Aroon D. Hingorani, Nicholas Wood

Bibliographic record

VenueNature Communications · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityMontreal Neurological Institute and Hospital
FundersRosetrees TrustKing Abdulaziz UniversityAgence Nationale de la RechercheUniversity College LondonParkinson's UKNational Institute for Health and Care ResearchMedical Research CouncilBarts Charity
KeywordsMendelian randomizationDruggabilityDiseaseGenomeGeneticsBiologyComputational biologyMendelian inheritanceDrugGeneMedicinePharmacologyGenetic variantsGenotype

Abstract

fetched live from OpenAlex

Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson's disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Parkinson's disease, including four possible drug repurposing opportunities and two drugs which may increase Parkinson's disease risk. Of these, we put forward six drug targets with the strongest Mendelian randomization evidence. There is remarkably little overlap between our drug targets to reduce Parkinson's disease risk versus progression, suggesting different molecular mechanisms. Drugs with genetic support are considerably more likely to succeed in clinical trials, and we provide compelling genetic evidence and an analysis pipeline to prioritise Parkinson's disease drug development.

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)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.807
Threshold uncertainty score0.352

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
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 head0.020
GPT teacher head0.303
Teacher spread0.282 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations214
Published2021
Admission routes1
Has abstractyes

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