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Record W2618122943 · doi:10.1038/ncomms15382

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

2017· review· en· W2618122943 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNature Communications · 2017
Typereview
Languageen
FieldImmunology and Microbiology
TopicPsoriasis: Treatment and Pathogenesis
Canadian institutionsMemorial University of NewfoundlandToronto Western HospitalUniversity of Toronto
FundersNational Center for Research ResourcesEuropean Regional Development FundNational Institute of Arthritis and Musculoskeletal and Skin DiseasesMedical Research CouncilNational Institutes of HealthTartu ÜlikoolHeinz Nixdorf StiftungDeutsche ForschungsgemeinschaftExzellenzclusters EntzündungsforschungNational Research FoundationKing's College LondonPsoriasis AssociationNational Human Genome Research InstituteWellcome TrustNational Psoriasis FoundationHelene Morgan Babcock and Alfred Babcock Memorial Scholarship TrustA. Alfred Taubman Medical Research InstituteDermatology FoundationBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchArthritis National Research FoundationU.S. Department of Veterans AffairsFoundation for the National Institutes of Health
KeywordsPsoriasisGenome-wide association studyGenetic architectureHeritabilityGeneticsGenetic associationBiologyMeta-analysisComputational biologyMedicineQuantitative trait locusSingle-nucleotide polymorphismImmunologyGeneGenotypeInternal medicine

Abstract

fetched live from OpenAlex

Abstract Psoriasis is a complex disease of skin with a prevalence of about 2%. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts, with a combined effective sample size >39,000 individuals. We identified 16 additional psoriasis susceptibility loci achieving genome-wide significance, increasing the number of identified loci to 63 for European-origin individuals. Functional analysis highlighted the roles of interferon signalling and the NFκB cascade, and we showed that the psoriasis signals are enriched in regulatory elements from different T cells (CD8 + T-cells and CD4 + T-cells including T H 0, T H 1 and T H 17). The identified loci explain ∼28% of the genetic heritability and generate a discriminatory genetic risk score (AUC=0.76 in our sample) that is significantly correlated with age at onset ( p= 2 × 10 −89 ). This study provides a comprehensive layout for the genetic architecture of common variants for psoriasis.

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.

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), Science and technology studies, Research integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.614
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0050.006
Bibliometrics0.0010.001
Science and technology studies0.0020.000
Scholarly communication0.0000.000
Open science0.0040.001
Research integrity0.0030.002
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 head0.122
GPT teacher head0.378
Teacher spread0.256 · 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