P0128 PP CONTRIBUTION OF CARD15 AND IBD5 (5Q31) LOCI TO PEDIATRIC ONSET INFLAMMATORY BOWEL DISEASE
Bibliographic record
Abstract
Introduction: Genetic susceptibility appears particularly important in the pathogenesis of early-onset IBD. Linkage of Crohn’s disease (CD) to the IBD1 (NOD2/CARD15) and IBD5 (5q31) loci has been demonstrated to be stronger in those with an earlier age of onset. Methods: 231 children and adolescents with confirmed IBD (167 CD, 64 UC) and available parents were studied. Genotyping was performed for the 3 risk alleles of CARD15 (R702W, G908R and 1007fsinsC), TNF -857, and SNP IGR 2096a_1 (IBD5). Transmission disequilibrium testing (TDT) was performed to evaluate family-based association and look for gene-gene interactions at these loci. Results: The mean age at diagnosis for CD was 12.3 years and for UC was 10.1 years. 30 % of the population examined were of Ashkenazi Jewish origin. Of the 3 CARD15 risk alleles, only the 1007fsinsC variant was significantly associated with CD (T/NT = 30/6; p = 0.000063). There was also significant association of IBD5 with CD (T/NT = 95/51; p = 0.0003) and a trend toward excess transmission in UC (T/NT = 31/21; p = 0.17). There was no association found between TNF -857 and IBD. Association of CD with IBD5 was similar in individuals carrying at least one copy of any of the CARD15 risk alleles compared to those with no copies. There were no interactions between IBD5 and TNF-857 identified. Conclusion: IBD5 is significantly associated with pediatric onset CD and there are some data to support a possible role for IBD5 in early onset UC. No epistatic interactions were identified in this group between CARD15 and IBD5 or TNF. Larger sample sizes in the pediatric population will be required to further test these conclusions.
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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 | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.012 | 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".