genetics

  • A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD
    Han Sang Kim, Jae Hee Cheon, Eun Suk Jung, Joonhee Park, Sowon Aum, Soo Jung Park, Sungho Eun, Jinu Lee, Ulrich Rüther, Giles S H Yeo, Marcella Ma, Kyong Soo Park, Takeo Naito, Yoichi Kakuta, Ji Hyun Lee, Won Ho Kim, Min Goo Lee
  • A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis
    Aleksandra A Kujko, Dorottya M. Berki, Grzegorz Oracz, Karolina Wejnarska, Justyna Antoniuk, Katarzyna Wertheim-Tysarowska, Elwira Kołodziejczyk, Jerzy Bal, Miklós Sahin-Tóth, Agnieszka M Rygiel
  • Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis
    Balázs Csaba Németh, Árpád V Patai, Miklós Sahin-Tóth, Péter Hegyi
  • TRPM8 polymorphisms associated with increased risk of IBS-C and IBS-M
    Maria Henström, Fatemeh Hadizadeh, Arthur Beyder, Ferdinando Bonfiglio, Tenghao Zheng, Ghazaleh Assadi, Joseph Rafter, Luis Bujanda, Lars Agreus, Anna Andreasson, Aldona Dlugosz, Greger Lindberg, Peter T Schmidt, Pontus Karling, Bodil Ohlsson, Nicholas J Talley, Magnus Simren, Susanna Walter, Mira Wouters, Gianrico Farrugia, Mauro D'Amato
  • Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis
    Rudi Alberts, Elisabeth M G de Vries, Elizabeth C Goode, Xiaojun Jiang, Fotis Sampaziotis, Krista Rombouts, Katrin Böttcher, Trine Folseraas, Tobias J Weismüller, Andrew L Mason, Weiwei Wang, Graeme Alexander, Domenico Alvaro, Annika Bergquist, Niklas K Björkström, Ulrich Beuers, Einar Björnsson, Kirsten Muri Boberg, Christopher L Bowlus, Maria C Bragazzi, Marco Carbone, Olivier Chazouillères, Angela Cheung, Georgios Dalekos, John Eaton, Bertus Eksteen, David Ellinghaus, Martti Färkkilä, Eleonora A M Festen, Annarosa Floreani, Irene Franceschet, Daniel Nils Gotthardt, Gideon M Hirschfield, Bart van Hoek, Kristian Holm, Simon Hohenester, Johannes Roksund Hov, Floris Imhann, Pietro Invernizzi, Brian D Juran, Henrike Lenzen, Wolfgang Lieb, Jimmy Z Liu, Hanns-Ulrich Marschall, Marco Marzioni, Espen Melum, Piotr Milkiewicz, Tobias Müller, Albert Pares, Christian Rupp, Christian Rust, Richard N Sandford, Christoph Schramm, Stefan Schreiber, Erik Schrumpf, Mark S Silverberg, Brijesh Srivastava, Martina Sterneck, Andreas Teufel, Ludovic Vallier, Joanne Verheij, Arnau Vich Vila, Boudewijn de Vries, Kalliopi Zachou, , Roger W Chapman, Michael P Manns, Massimo Pinzani, Simon M Rushbrook, Konstantinos N Lazaridis, Andre Franke, Carl A Anderson, Tom H Karlsen, Cyriel Y Ponsioen, Rinse K Weersma
  • In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing
    Hao Wu, Arnaud Boulling, David N Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec
  • A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency
    Soesma A Jankipersadsing, Fatemeh Hadizadeh, Marc Jan Bonder, Ettje F Tigchelaar, Patrick Deelen, Jingyuan Fu, Anna Andreasson, Lars Agreus, Susanna Walter, Cisca Wijmenga, Pirro Hysi, Mauro D'Amato, Alexandra Zhernakova
  • Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis
    Helga Westerlind, Marie-Rose Mellander, Francesca Bresso, Andreas Munch, Ferdinando Bonfiglio, Ghazaleh Assadi, Joseph Rafter, Matthias Hübenthal, Wolfgang Lieb, Henrik Källberg, Boel Brynedal, Leonid Padyukov, Jonas Halfvarson, Leif Törkvist, Jan Bjork, Anna Andreasson, Lars Agreus, Sven Almer, Stephan Miehlke, Ahmed Madisch, Bodil Ohlsson, Robert Löfberg, Rolf Hultcrantz, Andre Franke, Mauro D'Amato
  • Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome
    Maria Henström, Lena Diekmann, Ferdinando Bonfiglio, Fatemeh Hadizadeh, Eva-Maria Kuech, Maren von Köckritz-Blickwede, Louise B Thingholm, Tenghao Zheng, Ghazaleh Assadi, Claudia Dierks, Martin Heine, Ute Philipp, Ottmar Distl, Mary E Money, Meriem Belheouane, Femke-Anouska Heinsen, Joseph Rafter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Susanna Walter, Magnus Simrén, Pontus Karling, Bodil Ohlsson, Peter T Schmidt, Greger Lindberg, Aldona Dlugosz, Lars Agreus, Anna Andreasson, Emeran Mayer, John F Baines, Lars Engstrand, Piero Portincasa, Massimo Bellini, Vincenzo Stanghellini, Giovanni Barbara, Lin Chang, Michael Camilleri, Andre Franke, Hassan Y Naim, Mauro D'Amato
  • Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease
    Floris Imhann, Arnau Vich Vila, Marc Jan Bonder, Jingyuan Fu, Dirk Gevers, Marijn C Visschedijk, Lieke M Spekhorst, Rudi Alberts, Lude Franke, Hendrik M van Dullemen, Rinze W F Ter Steege, Curtis Huttenhower, Gerard Dijkstra, Ramnik J Xavier, Eleonora A M Festen, Cisca Wijmenga, Alexandra Zhernakova, Rinse K Weersma

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