P1297 Family History of Inflammatory Bowel Disease: Prevalence and Its Relationship with Clinical and Genetics Factors in Patients with Ulcerative Colitis and Crohn’s Disease in a SouthAmerican Cohort
Notice bibliographique
Résumé
Abstract Background Relatives of inflammatory bowel disease (IBD) patients have a higher risk of developing the condition than the general population. Approximately 12% of IBD cases are familial. We aim to evaluate the prevalence of family history of IBD (FH-IBD) in Crohn’s disease (CD) and ulcerative colitis (UC) patients, identify clinical characteristics linked to a higher FH-IBD risk, and develop a polygenic risk score (PRS) for FH-IBD. Methods Patients were recruited from a Chilean IBD referral center between 2019 and 2024, yielding clinical data from 412 individuals. The FH-IBD prevalence was based on affected first-degree relatives. Clinical characteristics were compared between groups with and without FH-IBD using chi-square and Mann-Whitney U tests. Significant variables were analyzed with univariate and multivariate methods, adjusted for age, sex, diagnosis age, and smoking. A subset of 232 IBD patients was genotyped with the Illumina Infinium array, and we constructed a FH-IBD polygenic risk score from IBD risk variants in European and Asian populations. Results A total of 16% (67/412) had FH-IBD: 15% (15/100) in the Crohn’s disease (CD) group and 16% (52/314) in the ulcerative colitis (UC) group. In the CD group, active smoking significantly increased the risk of FH-IBD, with 18% of patients without FH-IBD reporting a history of smoking compared to 47% with FH-IBD (p = 0.03). Diagnosis age differences per the Montreal classification showed that among those without FH-IBD, 4 (5%) were A1, 50 (60%) A2, and 30 (35%) A3; while in the FH-IBD group, 4 (26.5%) were A1, 4 (26.5%) A2, and 7 (47%) A3 (p = 0.01). In the UC group, 60 of 260 patients (23%) without FH-IBD had extraintestinal manifestations, compared to 23 of 52 (44%) with FH-IBD (p = 0.004). Hospitalization history was also more common in the FH-IBD group, at 56% (29/52) versus 38% (98/260) without FH-IBD (p = 0.01). Table 1 summarizes significant risk associations between clinical variables and FH-IBD for each disease, and Figure 1 presents the PRS for FH-IBD. Conclusion FH-IBD prevalence was 16%, aligning with existing literature. Active smoking in CD was significantly linked to FH-IBD, unlike in UC. A CD onset age of 17 to 40 years was associated with a lower FH-IBD risk. In UC, those with FH-IBD had higher rates of extraintestinal manifestations and hospitalization. A lower median PRS was observed in the FH-IBD group, but no significant differences emerged. Recognizing these risk factors emphasizes the need for a family approach in IBD assessment, which could enhance prevention and treatment strategies. Further studies are required to validate these findings. References Moller FT, Andersen V, Wohlfahrt J, Jess T. Familial risk of inflammatory bowel disease: a population-based cohort study 1977-2011. Am J Gastroenterol. 2015;110(4):564-571. doi:10.1038/ajg.2015.50 Liu Z, Liu R, Gao H, et al. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. Nat Genet. 2023;55(5):796-806. doi:10.1038/s41588-023-01384-0
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».