P120 A single-nucleotide polymorphism in the vitamin D receptor gene is associated with a B3-penetrating phenotype in Crohn's disease
Bibliographic record
Abstract
Background: Vitamin D signaling modulates inflammation through the vitamin D receptor (VDR) which is a member of the nuclear receptor family of transcription factors. The presence of C instead of T in the single-nucleotide polymorphism (SNP) rs731236 in the VDR gene has been associated with a higher risk for Crohn's disease (CD). We analysed the relevance of the presence of risk allele C in the evolution of the disease. Methods: DNA was extracted from blood samples from 99 patients diagnosed with CD and 72 healthy donors from the Hospital of Manises (Valencia) and the SNP was genotyped using PCR-RFLP. We collected clinical data for each patient, including the Montreal classification in several phenotypes. Also, peripheral blood mononuclear cells (PBMCs) from 16 CD patients with the TT or CC genotype were obtained and gene expression of some cytokines was quantified in these cells by real-time RT-PCR. Results: The allelic frequency of the risk allele was higher in CD patients related to healthy controls (p=0.2881, Fisher's test) and it was significantly different when compared with patients showing a B3 phenotype (p=0.026, Fisher's test). In addition, CD patients homozygous for the risk allele C initiated with the disease at a lower age (Fig. 1; p=0.05, t-test CC vs TT), and exhibited a significant higher risk to have a B3-penetrating phenotype (Fig. 2; p=0.0018, Chi-square; p=0.0078, Fisher's test CC vs TT, OR=5.3) and to need surgery (Fig. 3; p=0.013, Chi-square; p=0.021, Fisher's test CC vs TT, OR=4.3). Finally, PBMCs from patients with the CC genotype showed a higher level of IL1 β (p=0.13, t-test), IL18 (p=0.05, t-test) and IFN γ (p=0.36, t-test) mRNA than patients with the TT genotype. Figure 1 Figure 2 Figure 3 Conclusions: Our study indicates that homozygosity for the allele C in the SNP rs731236 in the VDR gene confers a higher risk to develop a B3-penetrating phenotype in CD patients, associated with an elevated expression of pro-inflammatory cytokines in PBMCs.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".