genetic polymorphisms

  • Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function
    Dalanda Wanes, Tammy Stellbrinck, Lara M Marten, René Santer, Hassan Y Naim
  • Improved NGS variant calling tool for the PRSS1–PRSS2 locus
    Haiyi Lou, Bo Xie, Yimin Wang, Yang Gao, Shuhua Xu
  • Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study
    Stephan Buch, Hamish Innes, Philipp Ludwig Lutz, Hans Dieter Nischalke, Jens U Marquardt, Janett Fischer, Karl Heinz Weiss, Jonas Rosendahl, Astrid Marot, Marcin Krawczyk, Markus Casper, Frank Lammert, Florian Eyer, Arndt Vogel, Silke Marhenke, Johann von Felden, Rohini Sharma, Stephen Rahul Atkinson, Andrew McQuillin, Jacob Nattermann, Clemens Schafmayer, Andre Franke, Christian Strassburg, Marcella Rietschel, Heidi Altmann, Stefan Sulk, Veera Raghavan Thangapandi, Mario Brosch, Carolin Lackner, Rudolf E Stauber, Ali Canbay, Alexander Link, Thomas Reiberger, Mattias Mandorfer, Georg Semmler, Bernhard Scheiner, Christian Datz, Stefano Romeo, Stefano Ginanni Corradini, William Lucien Irving, Joanne R Morling, Indra Neil Guha, Eleanor Barnes, M Azim Ansari, Jocelyn Quistrebert, Luca Valenti, Sascha A Müller, Marsha Yvonne Morgan, Jean-François Dufour, Jonel Trebicka, Thomas Berg, Pierre Deltenre, Sebastian Mueller, Jochen Hampe, Felix Stickel
  • Genetically proxied ketohexokinase function and risk of colorectal cancer: a Mendelian randomisation study
    Amée M Buziau, Philip J Law, Gabriella Blokland, Casper Schalkwijk, Jean Scheijen, Pomme Simons, Carla van der Kallen, Simone Eussen, Pieter C Dagnelie, Marleen van Greevenbroek, Richard S Houlston, Anke Wesselius, Molly Went, Coen Stehouwer, Martijn CGJ Brouwers
  • Alcohol amplifies the association between common variants at PRSS1–PRSS2 locus and chronic pancreatitis in a dose-dependent manner
    Yuan-Chen Wang, Xiao-Tong Mao, Dong Yu, Sheng-Han Mao, Zhao-Shen Li, Wen-Bin Zou, Zhuan Liao
  • Allelic variation at the interleukin 1β gene is associated with decreased bone mass in patients with inflammatory bowel diseases
    A Nemetz, M Tóth, M A García-González, T Zágoni, J Fehér, A S Peña, Z Tulassay
  • IL28B polymorphisms do not predict response to therapy in chronic hepatitis C with HCV genotype 5
    Nabil Antaki, Stéphanie Bibert, Kamel Kebbewar, Fouad Asaad, Osama Baroudi, Sawsan Alideeb, Milad Hadad, Dirar Abboud, Houda Sabah, Pierre-Yves Bochud, Francesco Negro
  • NAFLD between genes and environment: what drives fibrogenesis?
    Angelo Armandi, Jörn M Schattenberg
  • Genetic architectures of proximal and distal colorectal cancer are partly distinct
    Jeroen R Huyghe, Tabitha A Harrison, Stephanie A Bien, Heather Hampel, Jane C Figueiredo, Stephanie L Schmit, David V Conti, Sai Chen, Conghui Qu, Yi Lin, Richard Barfield, John A Baron, Amanda J Cross, Brenda Diergaarde, David Duggan, Sophia Harlid, Liher Imaz, Hyun Min Kang, David M Levine, Vittorio Perduca, Aurora Perez-Cornago, Lori C Sakoda, Fredrick R Schumacher, Martha L Slattery, Amanda E Toland, Fränzel J B van Duijnhoven, Bethany Van Guelpen, Antonio Agudo, Demetrius Albanes, M Henar Alonso, Kristin Anderson, Coral Arnau-Collell, Volker Arndt, Barbara L Banbury, Michael C Bassik, Sonja I Berndt, Stéphane Bézieau, D Timothy Bishop, Juergen Boehm, Heiner Boeing, Marie-Christine Boutron-Ruault, Hermann Brenner, Stefanie Brezina, Stephan Buch, Daniel D Buchanan, Andrea Burnett-Hartman, Bette J Caan, Peter T Campbell, Prudence R Carr, Antoni Castells, Sergi Castellví-Bel, Andrew T Chan, Jenny Chang-Claude, Stephen J Chanock, Keith R Curtis, Albert de la Chapelle, Douglas F Easton, Dallas R English, Edith J M Feskens, Manish Gala, Steven J Gallinger, W James Gauderman, Graham G Giles, Phyllis J Goodman, William M Grady, John S Grove, Andrea Gsur, Marc J Gunter, Robert W Haile, Jochen Hampe, Michael Hoffmeister, John L Hopper, Wan-Ling Hsu, Wen-Yi Huang, Thomas J Hudson, Mazda Jenab, Mark A Jenkins, Amit D Joshi, Temitope O Keku, Charles Kooperberg, Tilman Kühn, Sébastien Küry, Loic Le Marchand, Flavio Lejbkowicz, Christopher I Li, Li Li, Wolfgang Lieb, Annika Lindblom, Noralane M Lindor, Satu Männistö, Sanford D Markowitz, Roger L Milne, Lorena Moreno, Neil Murphy, Rami Nassir, Kenneth Offit, Shuji Ogino, Salvatore Panico, Patrick S Parfrey, Rachel Pearlman, Paul D P Pharoah, Amanda I Phipps, Elizabeth A Platz, John D Potter, Ross L Prentice, Lihong Qi, Leon Raskin, Gad Rennert, Hedy S Rennert, Elio Riboli, Clemens Schafmayer, Robert E Schoen, Daniela Seminara, Mingyang Song, Yu-Ru Su, Catherine M Tangen, Stephen N Thibodeau, Duncan C Thomas, Antonia Trichopoulou, Cornelia M Ulrich, Kala Visvanathan, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Korbinian Weigl, Stephanie J Weinstein, Emily White, Alicja Wolk, Michael O Woods, Anna H Wu, Goncalo R Abecasis, Deborah A Nickerson, Peter C Scacheri, Anshul Kundaje, Graham Casey, Stephen B Gruber, Li Hsu, Victor Moreno, Richard B Hayes, Polly A Newcomb, Ulrike Peters
  • Alcohol-dependent effect of PRSS1-PRSS2 haplotype in chronic pancreatitis
    Eszter Hegyi, Anna Zsófia Tóth, Áron Vincze, Andrea Szentesi, Péter Hegyi, Miklós Sahin-Tóth

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