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

Autor: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, Marlen, Zurek, Caterina, Strisciuglio, Mamoun, Elawad, Bernice, Lo, Carolina, Arancibia-Carcamo, Adam, Bailey, Ellie, Barnes, Elizabeth Louise, Bird-Lieberman, Oliver, Brain, Barbara, Braden, Jane, Collier, James, East, Lucy, Howarth, Satish, Keshav, Paul, Klenerman, Simon, Leedham, Rebecca, Palmer, Fiona, Powrie, Alison, Simmons, Matthew, Walker, Zoe, Tolkien, Stephen, Kaptoge, David, Allen, Susan, Mehenny, Jonathan, Mant, Emanuele, Di Angelantonio, Simon G, Thompson, Bahtiyar, Yilmaz, Pascal, Juillerat, Markus, Geuking, Reiner, Wiest, Andrew J, Macpherson, Francisco Damian, Bravo, Lukas, Brügger, Ove, Carstens, Ulrike Graf, Bigler, Benjamin, Heimgartner, Monica, Rusticeanu, Sybille, Schmid-Uebelhart, Bruno, Strebel, Aurora, Tatu, Radu, Tutuian, Ove, Øyås, Charlotte, Ramon, Jörg, Stelling, Yannick, Franc, Nicolas, Fournier, Valerie E H, Pittet, Bernard, Burnand, Mara, Egger, Delphine, Golay, Astrid, Marot, Leilla, Musso, Valérie, Pittet, Jean-Benoît, Rossel, Vivianne, Seematter, Joachim, Sommer, Rachel, Vulliamy, Pierre, Michetti, Michel H, Maillard, Céline, Keller, Andreas, Nydegger, Alain, Schoepfe, Eva, Archanioti, Jessica, Ezri, Montserrat, Fraga, Alain, Schoepfer, Christoph, Müller, Gerhard, Rogler, Luc, Biedermann, Mirjam, Blattmann, Sabine, Burk, Barbara, Dora, Michael, Fried, Benjamin, Misselwitz, Beat, Müllhaupt, Nicole, Obialo, Daniel, Pohl, Nadia, Raschle, Michael, Scharl, Stephan, Vavricka, Roland, Von Känel, Jonas, Zeitz, Karim, Abdelrahman, Gentiana, Ademi, Jan, Borovicka, Stephan, Brand, Remus, Frei, Johannes, Haarer, Christina, Knellwolf-Grieger, Claudia, Krieger-Grübel, Patrizia, Künzler, Christa, Meyenberger, Pamela, Meyer, Nina, Röhrich, Mikael, Sawatzki, Martin, Schelling, Gian-Marco, Semadeni, Michael, Sulz, Dorothee, Zimmermann, Patrick, Aepli, Dominique H, Criblez, Cyrill, Hess, Jean-Pierre, Richterich, Johannes, Spalinger, Dominic, Staudenmann, Andreas, Stulz, Stefanie, Wöhrle, Amman, Thomas, Claudia, Anderegg, Henrik, Köhler, Rachel, Kusche, Anca-Teodora, Antonino, Eviano, Arrigoni, José M, Bengoa, Sophie, Cunningham, Philippe, de Saussure, Laurent, Girard, Diana Bakker, de Jong, Polat, Bastürk, Simon, Brunner, Lukas, Degen, Petr, Hruz, Carolina, Khalid-de Bakker, Jan, Niess, Bruno, Balsiger, Janine, Haldemann, Gaby, Saner, Frank, Seibold, Peter, Bauerfeind, Andrea, Becocci, Dominique, Belli, Janek, Binek, Peter, Hengstler, Stephan, Boehm, Tujana, Boldanov, Patrick, Bühr, Rebekka, Koller, Vanessa, Rueger, Arne, Senning, Emanuel, Burri, Sophie, Buyse, Dahlia-Thao, Cao, Fabrizia, D'Angelo, Joakim, Delarive, Christopher, Doerig, Roxane, Hessler, Claudia, Preissler, Ronald, Rentsch, Branislav, Risti, Marc Alain, Ritz, Michael, Steuerwald, Jürg, Vögtlin, Markus, Sagmeister, Bernhard, Sauter, Susanne, Schibli, Christiane, Sokollik, Hugo, Schlauri, Jean-François, Schnegg, Mariam, Seirafi, Holger, Spangenberger, Philippe, Stadler, Peter, Staub, Volker, Stenz, Michela, Tempia-Caliera, Joël, Thorens, Kaspar, Truninger, Patrick, Urfer, Francesco, Viani, Dominique, Vouillamoz, Silvan, Zander, Tina, Wyli, L, Jostins, N A, Kennedy, T, Ahmad, C A, Lamb, C, Edwards, A, Hart, C, Hawkey, J C, Mansfield, C, Mowat, W G, Newman, A, Simmons, M, Tremelling, J C, Lee, N J, Prescott, C G, Mathew, C W, Lees, D P B, McGovern, S R, Targan, G, Botwin, E, Mengesha, P, Fleshner, C, Landers, D, Li, J D, Rioux, A, Bitton, J, Côté-Daigneault, M J, Daly, R, Xavier, K, Morris, G, Boucher, J H, Cho, C, Abraham, M, Merad, B, Sands, I, Peter, K, Hao, Y, Itan, R H, Duerr, L, Konnikova, M B, Schwartz, S, Proksell, E, Johnston, V, Miladinova, W, Chen, S R, Brant, L, Datta, M S, Silverberg, L P, Schumm, S, Birch, M, Giri, K, Gettler, Y, Sharma, C, Stevens, M, Lazarev, T, Haritunians

Publikováno v: Nature communications, Vol. 11, no. 1, p. 995 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K; Barakat, Farah; Auth, Marcus K H; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P; Satsangi, Jack; Parkes, Miles; ... (2020). Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature communications, 11(1), p. 995. 10.1038/s41467-019-14275-y
Nature communications, vol. 11, no. 1, pp. 995
Serra, E G, Schwerd, T, Moutsianas, L, Cavounidis, A, Fachal, L, Pandey, S, Kammermeier, J, Croft, N M, Posovszky, C, Rodrigues, A, Russell, R K, Barakat, F, Auth, M K H, Heuschkel, R, Zilbauer, M, Fyderek, K, Braegger, C, Travis, S P, Satsangi, J, Parkes, M, Thapar, N, Ferry, H, Matte, J C, Gilmour, K C, Wedrychowicz, A, Sullivan, P, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Baeumler, T A, Fulga, T A, Karaminejadranjbar, M, Ahmed, A, Wilson, R, Barrett, J C, Elkadri, A, Griffiths, A M, Snapper, S B, Shah, N, Muise, A M, Wilson, D C, Uhlig, H H & Anderson, C A 2020, ' Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease ', Nature Communications, vol. 11, no. 1, 995 . https://doi.org/10.1038/s41467-019-14275-y
Nature Communications, 11 (1)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282851f8bc740bd242ba5ac671511a88
https://ora.ox.ac.uk/objects/uuid:e074342c-af9d-41fd-a898-9b6570bb5151

The contribution of intrabolus pressure to symptoms induced by gastric banding

Autor: Radu Tutuian, Michael Fried, Jan Borovicka, Claudia Krieger-Grübel, Claudia Preissler

Publikováno v: Journal of gastrointestinal and liver diseases : JGLD. 23(1)

Background & Aims: Mechanisms that ultimately lead to dysphagia are still not totally clear. Patients with laparoscopic gastric banding (LAGB) often complain about dysphagia, regurgitation and heartburn. Our aim was to evaluate the contribution of in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b696f7508874f5fd6528f62aea68775
https://pubmed.ncbi.nlm.nih.gov/24689091

Childlessness in Patients with Inflammatory Bowel Disease - Data from the Prospective Multi-center Swiss IBD Cohort Study.

Autor: Sulz, Michael Christian^1,2, Doulberis, Michael^2,3,4, Fournier, Nicolas⁵, Biedermann, Luc², Zeitz, Jonas², Misselwitz, Benjamin², Imthurn, Bruno⁶, Rogler, Gerhard² gerhard.rogler@usz.ch

Publikováno v: Journal of Gastrointestinal & Liver Diseases. Dec2023, Vol. 32 Issue 4, p460-468. 9p.

Lifestyle factors associated with inflammatory bowel disease: data from the Swiss IBD cohort study.

Autor: Lautenschlager, Severin A.¹ (AUTHOR), Barry, Mamadou Pathé² (AUTHOR), Rogler, Gerhard¹ (AUTHOR), Biedermann, Luc¹ (AUTHOR), Schreiner, Philipp¹ (AUTHOR), Siebenhüner, Alexander R.^1,3 (AUTHOR) alexander.siebenhuener@usz.ch, Swiss IBD Cohort Study Group (AUTHOR), Abdelrahman, Karim (AUTHOR), Ademi, Gentiana (AUTHOR), Aepli, Patrick (AUTHOR), Thomas, Amman (AUTHOR), Anderegg, Claudia (AUTHOR), Antonino, Anca-Teodora (AUTHOR), Archanioti, Eva (AUTHOR), Arrigoni, Eviano (AUTHOR), de Jong, Diana Bakker (AUTHOR), Balsiger, Bruno (AUTHOR), Bastürk, Polat (AUTHOR), Bauerfeind, Peter (AUTHOR), Becocci, Andrea (AUTHOR)

Publikováno v: BMC Gastroenterology. 3/12/2023, Vol. 23 Issue 1, p1-12. 12p.

Genotype–phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients.

Autor: Yoganathan, Priyatharsan¹ (AUTHOR), Rossel, Jean-Benoit² (AUTHOR), Jordi, Sebastian Bruno Ulrich^1,3 (AUTHOR), Franc, Yannick^1,2 (AUTHOR), Biedermann, Luc¹ (AUTHOR), Misselwitz, Benjamin^1,3 (AUTHOR), Hausmann, Martin¹ (AUTHOR), Rogler, Gerhard^1,4 (AUTHOR), Scharl, Michael^1,4 (AUTHOR), Frey-Wagner, Isabelle^1,5,6 (AUTHOR) isabelle.frey@access.uzh.ch, Swiss IBD cohort study group (AUTHOR), Abdelrahman, Karim¹ (AUTHOR), Ademi, Gentiana¹ (AUTHOR), Aepli, Patrick¹ (AUTHOR), Thomas, Amman¹ (AUTHOR), Anderegg, Claudia¹ (AUTHOR), Antonino, Anca-Teodora¹ (AUTHOR), Archanioti, Eva¹ (AUTHOR), Arrigoni, Eviano¹ (AUTHOR), Bakker de Jong, Diana¹ (AUTHOR)

Publikováno v: BMC Gastroenterology. 11/9/2021, Vol. 21 Issue 1, p1-16. 16p.