3 research outputs found

    Prevalence of inflammatory bowel disease in the canton of Vaud (Switzerland) : a population-based cohort study

    Get PDF
    Abstract : Background and aims: Because of the changing epidemiology of Inflammatory Bowel Diseases (IBD), we set out to characterize the population-based prevalence of Crohn's Disease (CD) and Ulcerative Colitis (UC) in a defined population of Switzerland. Methods: Adult IBD patients were identified by across-matched review of histological, hospital and gastroenterologist files throughout a geographical defined population (Canton of Vaud). Demographic factors statistically significantly associated with prevalence were evaluated using a stepwise Poisson regression analysis. Results were compared to IBD prevalence rates in other population-based studies and time trends were performed, based on a systematic literature review. Results: Age and sex-adjusted prevalence rates were 205.7 IBD (100.7 CD and 105.0 UC) cases per 10,5 inhabitants. Among 1016 IBD patients (519 CD and 497 UC), females outnumbered males in CD (p<0.001), but males were more represented in elderly UC patients (p=0.008). Thus, being a mate was statistically associated with UC (Relative Risk (RR) 1.25; p=0.013), whereas being a female was associated with CD (RR 1.27; p=0.007). Living in an urban zone was associated with both CD and UC (RR 1.49; p<0.001, 1.63; p<0.001, respectively). From 1960 to 2005, increases in UC and CD prevalences of 2.4% (95%CI, 2.1%-2.8%; p<0.001) and 3.6% (95%CI, 3.1%-4.1%; p<0.001) per annum were found in industrialised countries. RĂ©sumĂ© de synthĂšse : 1. Introduction : Étant donnĂ© l'Ă©volution constante des donnĂ©s Ă©pidĂ©miologiques sur les maladies inflammatoires chroniques de l'intestin (MICI), nous avons recherchĂ© Ă  caractĂ©riser la prĂ©valence de la maladie de Crohn (MC) et de la colite ulcĂ©reuse (CU) dans une population dĂ©finie de la Suisse. 2. MĂ©thodes : Nous avons identifiĂ©s, dans une population dĂ©limitĂ©e au Canton de Vaud, les patients adultes atteints de maladies inflammatoires de l'intestin en regroupant les donnĂ©es histologiques et mĂ©dicales disponibles Ă  l'hĂŽpital et au cabinet du gastroentĂ©rologue. Pour nos analyses, nous avons utilisĂ© la mĂ©thode de la rĂ©gression de Poisson afin d'identifier les facteurs dĂ©mographiques significativement liĂ©s avec la prĂ©valence. Ensuite, nos rĂ©sultats ont Ă©tĂ© comparĂ©s aux valeurs de prĂ©valence des MICI issues d'autres Ă©tudes de population (revue systĂ©matique de la littĂ©rature) afin de dĂ©gager les tendances de leur Ă©volution au cours du temps. 3. RĂ©sultats : La prĂ©valence des MICI pondĂ©rĂ©e selon l'Ăąge et le sexe Ă©tait de 205.7 cas (100.7 MC et 105.0 CU) pour 10,5 habitants. Parmi les 1016 patients identifiĂ©s (519 MC et 497 CU), les femmes Ă©taient plus reprĂ©sentĂ©es que les hommes dans la MC (P<0.0001), alors que la proportion d'hommes dĂ©passait celle des femmes chez les patients ĂągĂ©s atteints de CU (p=0.008). Par consĂ©quent, le fait d'ĂȘtre un homme Ă©tait statistiquement associĂ© Ă  la CU (Risque relatif (RR) 1.25, p=0.013), et celui d'ĂȘtre une femme Ă©tait associĂ© Ă  la MC (RR 1.27 ; p=0.007). L'Ă©tude a Ă©galement montrĂ© qu'habiter en zone urbaine Ă©tait significativement associĂ© avec les deux types de MICI (RR (MC) 1.49; p<0.001, (CU) 1.63; p<0.001). Enfin, il a Ă©tĂ© mis en Ă©vidence dans les pays industrialisĂ©s, entre 1960 et 2005, une augmentation annuelle des taux de prĂ©valences de 2.4% (95% IC, 2.1 %-2.8% ; p<0.001) pour la MC et de 3.6% (95% IC, 3.1 %-4.1 % ; p<0.001) pour la CU. 4. Conclusion : L'extrapolation de nos donnĂ©es au niveau Suisse fournit une estimation de 12 000 cas de MICI pour le pays soit 1 cas pour 500 habitants. Notre Ă©tude contribue Ă©galement Ă  dĂ©montrer une augmentation de la prĂ©valence des MICI en Europe

    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    No full text
    Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10-10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10-10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis
    corecore