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Record W2790430471 · doi:10.18103/mra.v6i3.1690

Genetics of Psoriatic Arthritis – an update

2018· article· en· W2790430471 on OpenAlex
Darren D. O’Rielly, Proton Rahman

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

VenueMedical Research Archives · 2018
Typearticle
Languageen
FieldImmunology and Microbiology
TopicPsoriasis: Treatment and Pathogenesis
Canadian institutionsMemorial University of Newfoundland
Fundersnot available
KeywordsPsoriatic arthritisImmunologyPathogenesisPsoriasisAlleleMajor histocompatibility complexArthritisMedicineHLA-B27Inflammatory bowel diseaseHuman leukocyte antigenGeneticsDiseaseBiologyAntigenPathologyGene

Abstract

fetched live from OpenAlex

Psoriatic arthritis (PsA) is an inflammatory arthritis that commonly occurs with psoriasis and is attributed to genetic, immunologic and environmental factors. It shares skin involvement with psoriasis, articular involvement particularly with spondyloarthritis, bowel involvement with Crohn’s disease and eye involvement with uveitis, suggesting the existence of some common pathways. The Th-17 pathway and the IL-23/IL-17 axis have become prominent players in PsA and have considerably increased our understanding of disease pathogenesis. In this review article, we will focus on the genetic, epigenetic, and pharmacogenetic information with respect to PsA. Prominent genes identified in PsA via GWAS include HLA-A, HLA-B, HLA-C, IL-12B, IL-23R, IL-23A, TNIP1, TRAF3IP2, CSF2/P4HA2, FBXL19, REL, TYK2, NOS2, PTPN22, TNFAIP3, IFNLR1, IFIH1, and NFKBIA. These genetic markers have also illuminated key signaling pathways involved in PsA pathogenesis which can be broadly classified into those involved in epidermal differentiation, innate immunity, antigen presentation and processing, and acquired/adaptive immunity. With respect to PsA pathogenesis, the most consistent and predominant genetic effect is located on chromosome 6p21.3 within the major histocompatibility complex (MHC) region. The most significant association for increased PsA risk was with asparagine or serine residue at amino acid position 97 of HLA-B, where asparagine at position 97 of HLA-B represents the HLA-B*27 allele. Moreover, specific HLA alleles have been associated with disease susceptibility, expression and progression in PsA. The prominent emerging role of the Th-17 signaling pathway in PsA pathogenesis will be highlighted. The lack of identified PsA genetic susceptibility loci is largely attributed to the much smaller number of patients, classification criteria used, and the greater clinical heterogeneity of PsA compared with 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)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesInsufficient payload (model declined to judge)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.971
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.002
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.042
GPT teacher head0.350
Teacher spread0.308 · 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