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2 results on '"Mueller, S. (Sebastian)"'

1. State Markers of Alcohol Use and Their Application

Author

Mueller, Sebastian, Heilig, Markus, Mueller, S ( Sebastian ), Heilig, M ( Markus ), Wurst, Friedrich Martin, Luginbühl, Marc, Barrio, Pablo, Gual, Antoni; https://orcid.org/0000-0002-7130-981X, Thon, Natasha, Weinmann, Wolfgang; https://orcid.org/0000-0001-8659-1304, Stöth, Frederike, Yegles, Michel, Wong, Jessica, Preuss, Ulrich W, Mueller, Sebastian, Heilig, Markus, Mueller, S ( Sebastian ), Heilig, M ( Markus ), Wurst, Friedrich Martin, Luginbühl, Marc, Barrio, Pablo, Gual, Antoni; https://orcid.org/0000-0002-7130-981X, Thon, Natasha, Weinmann, Wolfgang; https://orcid.org/0000-0001-8659-1304, Stöth, Frederike, Yegles, Michel, Wong, Jessica, and Preuss, Ulrich W

Abstract

Alcohol-related disorders are widespread and often underdiagnosed. They are associated with substantial costs, not only for the individual drinking alcohol but to the society as a whole. Questionnaires and biomarkers are useful to facilitate screening, diagnosis, and treatment of alcohol-related disorders and thus prevent later complications. The analytical spectrum offers a wide portfolio of direct and indirect alcohol markers which can be investigated. Indirect state markers such as gamma-glutamyl transpeptidase (GGT), carbohydrate deficiency transferrin (CDT), and the mean corpuscular volume (MCV) are influenced by age and sex, various substances, and non-alcohol-related diseases. Furthermore, they do not cover the entire timeline for alcohol consumption. Direct state markers such as ethyl glucuronide (EtG), phosphatidylethanol (PEth), and fatty acid ethyl esters (FAEE) have gained enormous interest in the last decades as they embed the consumed ethanol within their chemical structure. As biomarkers with high sensitivity and specificity covering different windows of detection, they are recommended in guidelines, should be routinely applied, and contribute to new perspectives in the prevention, interdisciplinary cooperation, diagnosis, and treatment of alcohol-related disorders.

Published
2023

2. Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis

Author

Rosendahl, J. (Jonas), Kirsten, H. (Holger), Hegyi, E. (Eszter), Kovacs, P. (Peter), Weiss, F.U. (Frank-Ulrich), Laumen, H. (Helmut), Lichtner, P. (Peter), Ruffert, C. (Claudia), Chen, J.-M. (Jian-Min), Masson, E. (Emmanuelle), Beer, S. (Sebastian), Zimmer, C. (Constantin), Seltsam, K. (Katharina), Algül, H. (Hana), Bühler, F. (Florence), Bruno, M.J. (Marco), Bugert, P. (Peter), Burkhardt, R. (Ralph), Cavestro, G.M. (Giulia Martina), Cichoz-Lach, H. (Halina), Farré, A. (Antoni), Frank, J. (Josef), Gambaro, G. (Giovanni), Gimpfl, S. (Sebastian), Grallert, H. (Harald), Griesmann, H. (Heidi), Grützmann, R. (Robert), Hellerbrand, C. (Claus), Hegyi, P. (Peter), Hollenbach, M. (Marcus), Iordache, S. (Sevastitia), Jurkowska, G. (Grazyna), Keim, V. (Volker), Kiefer, F. (Falk), Krug, S. (Sebastian), Landt, O., Leo, M.D. (Milena Di), Lerch, M. (M.), Lévy, P. (Philippe), Löffler, M. (Markus), Löhr, M. (M.), Ludwig, M. (Maren), Macek, M. (Milan MI), Malats, N. (Núria), Malecka-Panas, E. (Ewa), Malerba, G. (Giovanni), Mann, K. (Karl), Mayerle, J. (Julia), Mohr, S. (Sonja), Te Morsche, R.H.M. (René H.), Motyka, M. (Marie), Mueller, S. (Sebastian), Müller, T. (Thomas), Nöthen, M.M. (Markus), Pedrazzoli, S. (Sergio), Pereira, S.P. (Stephen P.), Peters, A. (Annette), Pfützer, R. (Roland), Real, F.X. (Francisco), Rebours, V. (Vinciane), Ridinger, M. (Monika), Rietschel, M. (Marcella), Rösmann, E. (Eva), Saftoiu, A. (Adrian), Schneider, A. (Alexander), Schulz, H.-U. (Hans-Ulrich), Soranzo, N. (Nicole), Soyka, M. (Michael), Simon, P. (Peter), Skipworth, J. (James), Stickel, F. (Felix), Strauch, K. (Konstantin), Stumvoll, M. (Michael), Testoni, P.A. (Pier Alberto), Tönjes, A. (Anke), Werner, L. (Lena), Werner, J. (Jens Martin), Wodarz, N. (Norbert), Ziegler, M. (Martin), Masamune, A. (Atsushi), Mössner, J. (Joachim), Férec, C. (Claude), Michl, P. (Patrick), Drenth, J.P.H. (Joost), Witt, H. (Heiko), Scholz, M. (Markus), Sahin-Tóth, M. (Miklós), Rosendahl, J. (Jonas), Kirsten, H. (Holger), Hegyi, E. (Eszter), Kovacs, P. (Peter), Weiss, F.U. (Frank-Ulrich), Laumen, H. (Helmut), Lichtner, P. (Peter), Ruffert, C. (Claudia), Chen, J.-M. (Jian-Min), Masson, E. (Emmanuelle), Beer, S. (Sebastian), Zimmer, C. (Constantin), Seltsam, K. (Katharina), Algül, H. (Hana), Bühler, F. (Florence), Bruno, M.J. (Marco), Bugert, P. (Peter), Burkhardt, R. (Ralph), Cavestro, G.M. (Giulia Martina), Cichoz-Lach, H. (Halina), Farré, A. (Antoni), Frank, J. (Josef), Gambaro, G. (Giovanni), Gimpfl, S. (Sebastian), Grallert, H. (Harald), Griesmann, H. (Heidi), Grützmann, R. (Robert), Hellerbrand, C. (Claus), Hegyi, P. (Peter), Hollenbach, M. (Marcus), Iordache, S. (Sevastitia), Jurkowska, G. (Grazyna), Keim, V. (Volker), Kiefer, F. (Falk), Krug, S. (Sebastian), Landt, O., Leo, M.D. (Milena Di), Lerch, M. (M.), Lévy, P. (Philippe), Löffler, M. (Markus), Löhr, M. (M.), Ludwig, M. (Maren), Macek, M. (Milan MI), Malats, N. (Núria), Malecka-Panas, E. (Ewa), Malerba, G. (Giovanni), Mann, K. (Karl), Mayerle, J. (Julia), Mohr, S. (Sonja), Te Morsche, R.H.M. (René H.), Motyka, M. (Marie), Mueller, S. (Sebastian), Müller, T. (Thomas), Nöthen, M.M. (Markus), Pedrazzoli, S. (Sergio), Pereira, S.P. (Stephen P.), Peters, A. (Annette), Pfützer, R. (Roland), Real, F.X. (Francisco), Rebours, V. (Vinciane), Ridinger, M. (Monika), Rietschel, M. (Marcella), Rösmann, E. (Eva), Saftoiu, A. (Adrian), Schneider, A. (Alexander), Schulz, H.-U. (Hans-Ulrich), Soranzo, N. (Nicole), Soyka, M. (Michael), Simon, P. (Peter), Skipworth, J. (James), Stickel, F. (Felix), Strauch, K. (Konstantin), Stumvoll, M. (Michael), Testoni, P.A. (Pier Alberto), Tönjes, A. (Anke), Werner, L. (Lena), Werner, J. (Jens Martin), Wodarz, N. (Norbert), Ziegler, M. (Martin), Masamune, A. (Atsushi), Mössner, J. (Joachim), Férec, C. (Claude), Michl, P. (Patrick), Drenth, J.P.H. (Joost), Witt, H. (Heiko), Scholz, M. (Markus), and Sahin-Tóth, M. (Miklós)

Abstract

Objective: Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic pancreatitis (CP) is poorly characterised. To identify risk genes for alcoholic CP and to evaluate their relevance in non-alcoholic CP, we performed a genome-wide association study and functional characterisation of a new pancreatitis locus. Design: 1959 European alcoholic CP patients and population-based controls from the KORA, LIFE and INCIPE studies (n=4708) as well as chronic alcoholics from the GESGA consortium (n=1332) were screened with Illumina technology. For replication, three European cohorts comprising 1650 patients with non-alcoholic CP and 6695 controls originating from the same countries were used. Results: We replicated previously reported risk loci CLDN2-MORC4, CTRC, PRSS1-PRSS2 and SPINK1 in alcoholic CP patients. We identified CTRB1-CTRB2 (chymotrypsin B1 and B2) as a new risk locus with lead single-nucleotide polymorphism (SNP) rs8055167 (OR 1.35, 95% CI 1.23 to 1.6). We found that a 16.6 kb inversion in the CTRB1-CTRB2 locus was in linkage disequilibrium with the CP-associated SNPs and was best tagged by rs8048956. The association was replicated in three independent European non-alcoholic CP cohorts of 1650 patients and 6695 controls (OR 1.62, 95% CI 1.42 to 1.86). The inversion changes the expression ratio of the CTRB1 and CTRB2 isoforms and thereby affects protective trypsinogen degradation and ultimately pancreatitis risk. Conclusion: An inversion in the CTRB1-CTRB2 locus modifies risk for alcoholic and non-alcoholic CP indicating that common pathomechanisms are involved in these inflammatory disorders.

Published
2018
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