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Record W2898735344 · doi:10.1101/453332

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

2018· preprint· en· W2898735344 on OpenAlexafffund
Εvangelos Εvangelou, He Gao, Congying Chu, Georgios Ntritsos, Paul Blakeley, Andrew R. Butts, Raha Pazoki, Hideaki Suzuki, Fotios Koskeridis, Andrianos M. Yiorkas, İbrahim Karaman, Joshua Elliott, Stefanie Aeschbacher, Traci M. Bartz, Sebastian E. Baumeister, Peter S. Braund, Michael R. Brown, Jennifer A. Brody, Toni-Kim Clarke, Niki Dimou, Jessica D. Faul, Georg Homuth, Anne Jackson, Katherine A. Kentistou, Peter K. Joshi, Rozenn N. Lemaître, Penelope A. Lind, Leo‐Pekka Lyytikäinen, Massimo Mangino, Yuri Milaneschi, Christopher P. Nelson, Ilja M. Nolte, Mia-Maria Perälä, Ozren Polašek, David J. Porteous, Scott M. Ratliff, Jennifer A. Smith, Alena Stančáková, Alexander Teumer, Samuli Tuominen, Sébastien Thériault, Jagadish Vangipurapu, John B. Whitfield, Alexis C. Wood, Jie Yao, Bing Yu, Wei Zhao, Dan E. Arking, Juha Auvinen, Chunyu Liu, Minna Männikkö, Lorenz Risch, Jerome I. Rotter, Harold Snieder, Juha Veijola, Alexandra I. F. Blakemore, Michael Boehnke, Harry Campbell, David Conen, Johan G. Eriksson, Hans J. Grabe, Xiuqing Guo, Pim van der Harst, Catharina A. Hartman, Caroline Hayward, Andrew C. Heath, Marjo‐Riitta Järvelin, Mika Kähönen, Sharon LR Kardia, Michael Kühne, Johanna Kuusisto, Markku Laakso, Jari Lahti, Terho Lehtimäki, Andrew M. McIntosh, Karen L. Mohlke, Alanna C. Morrison, Nicholas G. Martin, Albertine J. Oldehinkel, Brenda W.J.H. Penninx, Bruce M. Psaty, Olli T. Raitakari, Igor Rudan, Nilesh J. Samani, Laura J. Scott, Tim D. Spector, Niek Verweij, David R. Weir, James F. Wilson, Daniel Levy, Ioanna Tzoulaki, Jimmy D. Bell, Paul M. Matthews, Adrian Rothenfluh, Sylvane Desrivières, Günter Schumann, Paul Elliott

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2018
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité LavalMcMaster UniversityPopulation Health Research Institute
FundersNetherlands Heart InstituteMedical Research CouncilHorizon 2020 Framework ProgrammeNational Institutes of HealthPublic Health EnglandSvenska Forskningsrådet FormasDeutsche ForschungsgemeinschaftCanadian Institutes of Health ResearchImperial College Healthcare NHS TrustImperial College LondonAlzheimer's SocietyEuropean CommissionKing's College LondonMcMaster UniversitySouth London and Maudsley NHS Foundation TrustBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchUK Dementia Research InstituteVetenskapsrådetNational Institute for Health Research Health Protection Research UnitEU Joint Programme – Neurodegenerative Disease ResearchUniversité Laval
KeywordsGenome-wide association studyGenetic associationGenetic architectureSchizophrenia (object-oriented programming)GeneticsBiologyAlcohol consumptionAlcohol dependenceExpression quantitative trait lociAlcoholGeneQuantitative trait locusMedicinePsychiatrySingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

Abstract Excessive alcohol consumption is one of the main causes of death and disability worldwide. Alcohol consumption is a heritable complex trait. We conducted a genome-wide association study (GWAS) of alcohol use in ~480,000 people of European descent to decipher the genetic architecture of alcohol intake. We identified 46 novel, common loci, and investigated their potential functional significance using magnetic resonance imaging data, gene expression and behavioral studies in Drosophila . Our results identify new genetic pathways associated with alcohol consumption and suggest common genetic mechanisms with several neuropsychiatric disorders including schizophrenia.

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 score0.005
Threshold uncertainty score0.017

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0050.000

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 head0.254
Teacher spread0.234 · 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

Citations3
Published2018
Admission routes2
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenetic Associations and Epidemiology→French-language works237,207→