P824 Phenotypic and genetic markers of disease severity in a Maltese IBD cohort
Bibliographic record
Abstract
Whilst most inflammatory bowel disease (IBD) treatment algorithms depend on disease severity classification, no formal validated definitions exist on what constitutes mild, moderate and severe ulcerative colitis (UC) and Crohn's disease (CD). Furthermore, the genetic architecture of disease severity may be distinct from that of disease susceptibility. IBD patients were compared with eachother on the basis of disease severity. For the purpose of this study severe IBD was defined as current or previous use of anti-TNF agents or surgery. Genotyping was carried out on the Illumina Immunochip platform. Patients were characterised using the Montreal classification. Using our definition for disease severity resulted in more CD patients being classified as severe. Bar graph showing proportion of non-severe (white bars) to severe patients in both UC and CD. Tables 1 and 2 summarise disease characteristics for UC (n = 109) and CD (n = 194) patients in our cohort. Mean illness durations for UC and CD were 11.9 years and 11.1 years. Table 1. UC clinical characteristics and associations with disease severity. Table 2. CD clinical characteristics and associations with disease severity. Amongst these variables only disease duration (OR = 1.1) and hospitalisation (OR = 13) in UC and young age at diagnosis (OR = 1.1), disease behaviour (B2 OR = 6; B3 OR = 22) and location (L3 OR = 2) in CD remained significant after performing binary logistic regression. Whilst several SNPs reached borderline association significance, 4 separate loci on chromosomes 2, 8, 14 and 16 are of special interest since they exhibit strong linkage disequilibrium between each other. Furthermore, these loci were different from the IBD susceptibility loci that emerged from another case–control association analysis comparing the same IBD patients to healthy controls. Regional association plot for (a) CALCRL, (b) ZFAT, (c) C14orf2 and (d) PYCARD / FUS. 8d shows the strong linkage that exists between our typed SNPs and several polymorphisms occurring in integrin genes ITGAM, ITGAX and ITGAD. IBD severity and susceptibility seem to be under the influence of different genetic factors and biological pathways. Whilst history of hospitalisation was the strongest determinant for severe UC, all domains of the Montreal classification contributed to CD severity. Further research on this subject requires international collaboration and agreement on what defines severe IBD.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".