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Record W2897469060 · doi:10.1002/ajmg.b.32652

Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data

2018· article· en· W2897469060 on OpenAlexaff
Daniel S. Tylee, Jiayin Sun, Jonathan Hess, Muhammad A. Tahir, Esha Sharma, Rainer Malik, Bradford B. Worrall, Andrew J. Levine, Jeremy Martinson, Sergey Nejentsev, Doug Speed, Annegret Fischer, Eric Mick, Brian R. Walker, Andrew Crawford, Struan F.A. Grant, Constantin Polychronakos, Jonathan P. Bradfield, Patrick Sleiman, Håkon Håkonarson, Eva Ellinghaus, James T. Elder, Lam C. Tsoi, Richard C. Trembath, André Franke, Abbas Dehghan

Bibliographic record

VenueAmerican Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University Health Centre
FundersNational Institute of Mental HealthNIHR Cambridge Biomedical Research CentreNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Allergy and Infectious DiseasesMedical Research CouncilNational Institutes of HealthNational Institute for Health and Care ResearchNational Institute on AgingStiftung zur Erforschung der Vaskulären DemenzAutism SpeaksGerber FoundationBritish Heart FoundationCenter for AIDS Research, University of California Los AngelesWellcome TrustSidney R. Baer, Jr. FoundationCenter for AIDS Research, University of WashingtonNational Institute on Drug AbuseNational Alliance for Research on Schizophrenia and DepressionBrain and Behavior Research Foundation
KeywordsGenome-wide association studyAssociation (psychology)Genetic associationPhenotypePsychiatric geneticsGenetic dataGeneticsBiologyComputational biologyPsychologyData sciencePsychiatryMedicineGeneComputer scienceGenotypeSingle-nucleotide polymorphismSchizophrenia (object-oriented programming)Environmental health

Abstract

fetched live from OpenAlex

Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies to determine if commonly varying single nucleotide polymorphisms are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depression, obsessive compulsive disorder, schizophrenia, smoking behavior, and Tourette syndrome. Loci significantly mediating genetic correlations were identified for schizophrenia when analytically paired with Crohn's disease, primary biliary cirrhosis, systemic lupus erythematosus, and ulcerative colitis. We report significantly correlated loci and highlight those containing genome-wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations among the immune-related phenotypes. We discuss our findings in the context of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study.

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)0.002
metaresearch head score (Gemma)0.003
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.028
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
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 head0.010
GPT teacher head0.265
Teacher spread0.255 · 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
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

Citations240
Published2018
Admission routes1
Has abstractyes

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