Functional Variations of Organic Cation Transporters associated to Inflammatory Bowel Disease (IBD) in a Manitoba Cohort
Bibliographic record
Abstract
Polymorphisms in SLC22A4 , SLC22A23 and IBD5 locus have been associated with pathogenesis of IBD. This study sought to investigate the association of common and rare single nucleotide polymorphisms (SNPs) within those genes in Manitoba's IBD population. DNA samples from 160 patients with Crohn's Disease (CD), 149 patients with Ulcerative Colitis (UC) and 142 healthy controls were genotyped by PCR‐RFLP analysis. The IBD5 rs11739136‐C and rs17622208‐A alleles are associated with increased susceptibility to CD (OR=1.8, 95%CI 1.28–2.5, p=0.0006; OR=1.4, 95%CI 1.01–1.92, p=0.04, respectively). Moreover, rs11739136‐CC homozygosity increased the susceptibility of UC (OR=4.74, 95% CI 1.74–12.9, p=0.0009). Both CD (62%) and UC (64%) showed higher frequencies of SLC22A23 rs17309827 T allele than controls (61%). SLC22A4 rs1050152 showed strong Linkage Disequilibrium (LD) (D′ =0.98) with rs11739135. The risk alleles conform a haplotype (TACT) which is carried by 38.8% in CD patients and 29.8% in controls (p=0.02). We report that rs11739135 and rs17622208 best tag IBD5 haplotypes. Two selected rare polymorphisms in SLC22A4 (rs11568500 and rs11568510) were not detected in our population. Rare variations might be relevant in populations with different ethnical background. Further studies on the role of solute transporters in IBD are needed to develop therapeutic interventions.
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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 | 0.001 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.002 | 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) | 0.002 | 0.000 |
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.
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".