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Record W3092051401 · doi:10.1093/sleep/zsaa211

Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons

2020· review· en· W3092051401 on OpenAlexafffund
Samar Khoury, Qiao‐Ping Wang, Marc Parisien, Pavel Gris, Andrey V. Bortsov, Sarah D. Linnstaedt, Samuel A. McLean, Andrew S. Tungate, Tamar Sofer, Jiwon Lee, Tin Louie, Susan Redline, Mari Kaunisto, Eija Kalso, Hans Markus Münter, Andrea G. Nackley, Gary D. Slade, Shad B. Smith, Dmitri V. Zaykin, Roger B. Fillingim, Richard Ohrbach, Joel D. Greenspan, William Maixner, G. Gregory Neely, Luda Diatchenko

Bibliographic record

VenueSLEEP · 2020
Typereview
Languageen
FieldPsychology
TopicSleep and related disorders
Canadian institutionsMcGill University
FundersNational Institute on Minority Health and Health DisparitiesNational Institute of Dental and Craniofacial ResearchNational Institute of Neurological Disorders and StrokeNational Heart, Lung, and Blood InstituteNational Health and Medical Research CouncilUniversity of North Carolina at Chapel HillNational Institutes of HealthNational Center for Advancing Translational SciencesNational Human Genome Research InstituteCanada Excellence Research Chairs, Government of CanadaUniversity of WashingtonUniversity of Illinois at ChicagoSan Diego State UniversityNational Natural Science Foundation of ChinaNational Institute of Diabetes and Digestive and Kidney DiseasesJackson State UniversityNational Institute on AgingUniversity of North CarolinaNational Cancer InstituteSeventh Framework ProgrammeMississippi State Department of HealthNational Institute on Deafness and Other Communication DisordersUniversity of Miami
KeywordsGenome-wide association studySleep (system call)Pittsburgh Sleep Quality IndexBiologyGeneticsGenetic associationLocus (genetics)Sleep qualityGeneNeuroscienceSingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

Poor sleep quality can have harmful health consequences. Although many aspects of sleep are heritable, the understandings of genetic factors involved in its physiology remain limited. Here, we performed a genome-wide association study (GWAS) using the Pittsburgh Sleep Quality Index (PSQI) in a multi-ethnic discovery cohort (n = 2868) and found two novel genome-wide loci on chromosomes 2 and 7 associated with global sleep quality. A meta-analysis in 12 independent cohorts (100 000 individuals) replicated the association on chromosome 7 between NPY and MPP6. While NPY is an important sleep gene, we tested for an independent functional role of MPP6. Expression data showed an association of this locus with both NPY and MPP6 mRNA levels in brain tissues. Moreover, knockdown of an orthologue of MPP6 in Drosophila melanogaster sleep center neurons resulted in decreased sleep duration. With convergent evidence, we describe a new locus impacting human variability in sleep quality through known NPY and novel MPP6 sleep genes.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.249
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0060.005
Bibliometrics0.0020.003
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.001

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 head0.258
GPT teacher head0.446
Teacher spread0.188 · 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 designMeta-analysis
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

Citations16
Published2020
Admission routes2
Has abstractyes

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