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6. Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group

Author

Junk, Stefanie V., Schaeffeler, Elke, Zimmermann, Martin, Möricke, Anja, Beier, Rita, Schütte, Peter, Fedders, Birthe, Alten, Julia, Hinze, Laura, Klein, Norman, Kulozik, Andreas, Muckenthaler, Martina U., Koehler, Rolf, Borkhardt, Arndt, Vijayakrishnan, Jayaram, Ellinghaus, David, Forster, Michael, Franke, Andre, Wintering, Astrid, Kratz, Christian P., Schrappe, Martin, Schwab, Matthias, Houlston, Richard S., Cario, Gunnar, and Stanulla, Martin

Published
2023
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7. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Author

Buunk, Annemarie, Goossens, Hanneke, Baas, Gert, Algera, Maartje, Schuil-Vlassak, Evelyn, Ambagts, Thijs, De Hoog-Schouten, Leonie, Musaafir, Sara, Bosch, Roelof, Tjong, Carol, Steeman, Sanne, Van der Plas, Martine, Baldew, Glenn, Den Hollander, Iris, De Waal, Zacharias, Heijn, Aurele, Nelemans, Leen, Kouwen-Lubbers, Kirsten, Van Leeuwen, Maartje, Hoogenboom, Sacha, Van Doremalen, Jacobine, Ton, Célin, Beetstra, Bastien, Meijs, Veronique, Dikken, Jan, Dubero, Dasha, Slager, Mark, Houben, Tom, Kanis, Thomas, Overmars, Wietske, Nijenhuis, Marga, Steffens, Michael, Bergs, Ingmar, Karamperis, Kariofyllis, Siamoglou, Stavroula, Ivantsik, Ouliana, Samiou, Georgia-Chryssa, Kordou, Zoe, Tsermpini, Evira, Ferentinos, Panagiotis, Karaivazoglou, Aikaterini, Rigas, George, Gerasimou, Harilaos, Voukelatou, Georgia, Georgila, Eleni, Tsermpini, Evangelia Eirini, Mendrinou, Efrossyni, Chalikiopoulou, Konstantina, Kolliopoulou, Alexandra, Mitropoulos, Konstantinos, Stratopoulos, Apostolos, Liopetas, Ioannis, Tsikrika, Athina, Barba, Evangelia, Emmanouil, Georgia, Stamopoulou, Theano, Stathoulias, Andreas, Giannopoulos, Panagiotis, Kanellakis, Filippos, Bartsakoulia, Marina, Katsila, Theodora, Douzenis, Athanassios, Gourzis, Filippos, Assimakopoulos, Konstantinos, Bignucolo, Alessia, Dal Cin, Lisa, Comello, Francesco, Mezzalira, Silvia, Puglisi, Fabio, Spina, Michele, Foltran, Luisa, Guardascione, Michela, Buonadonna, Angela, Bartoletti, Michele, Corsetti, Serena, Ongaro, Elena, Da Ros, Lucia, Bolzonello, Silvia, Spazzapan, Simon, Freschi, Andrea, Di Nardo, Paola, Palazzari, Elisa, Navarria, Federico, Innocente, Roberto, Berretta, Massimiliano, D'Andrea, Mario, Angelini, Francesco, Diraimo, Tania, Favaretto, Adolfo, Dávila-Fajardo, Cristina Lucía, Díaz-Villamarín, Xando, Martínez-González, Luis Javier, Antúnez-Rodríguez, Alba, Moreno-Escobar, Eduardo, Fernández-Gómez, Ana Estefanía, García-Navas, Paloma, Bautista-Pavés, Alicia Bautista Pavés, Burillo-Gómez, Francisco, Villegas-Rodríguez, Inmaculada, Sánchez-Ramos, Jesús Gabriel, Antolinos-Pérez, Mª José, Rivera, Ricardo, Martínez-Huertas, Susana, Thomas-Carazo, Jesús, Yañez-Sanchez, Jose Julio, Blancas-López-Barajas, Mª Isabel, García-Orta, Rocío, González-Astorga, Beatriz, Rodríguez-González, Carlos José, Ruiz-Carazo, Francisco Javier, Pérez-Campos, Manuel, Cano-Herrera, Irene, Herrera, Rosa, Gil-Jiménez, Teresa, Delgado-Ureña, Mª Teresa, Triviño-Juarez, Jose Matías, Campos-Velázquez, Salustiano, Alcántara- Espadafor, Silvia, Moreno Aguilar, Maria Rosario, Ontiveros- Ortega, Maria Carmen, Carnerero-Córdoba, Lidia, Guerrero-Jiménez, Margarita, Legeren- Álvarez, Marta, Yélamos-Vargas, Marisol, Castillo-Pérez, Isabel, Aomar-Millán, Ismael, Anguita-Romero, Manuel, Sánchez-García, María José, Sequero-Lopez, Silvia, Faro-Miguez, Naya, López-Fernández, Silvia, Leyva-Ferrer, Rosario Nieves, Herrera-Gómez, Norberto, Pertejo-Manzano, Laura, Pérez-Gutierrez, Eva Mª, Martín-de la Higuera, Antonio J., Plaza-Carrera, Jose, Baena-Garzón, Flor, Toledo-Frías, Pablo, Cruz-Valero, Inés, Chacón-McWeeny, Verónica, Gallardo- Sánchez, Isabel, Arrebola, Antonio, Guillén-Zafra, Lucía, Ceballos-Torres, Ángel, Guardia-Mancilla, Plácido, Guirao-Arrabal, Emilio, Canterero-Hinojosa, Jesús, Velasco-Fuentes, Sara, Sánchez- Cano, Daniel, Aguilar-Jaldo, Mª del Pilar, Caballero-Borrego, Juan, Praznik, Monika, Slapšak, Urška, Voncina, Blaz, Rajter, Branka, Škrinjar, Andrej, Marjetic Ulcakar, Angelika, Zidanšek, Anja, Stegne Ignjatvic, Tea, Mazej Poredoš, Barbara, Vivod Pecnik, Živka, Poplas Susic, Tonka, Juteršek, Milojka, Klen, Jasna, Skoporc, Janja, Kotar, Tjaša, Petek Šter, Marija, Zvezdana Dernovšk, Mojca, Mlinšek, Gregor, Miklavcic, Petra, Plemenitaš Ilješ, Anja, Grašic Kuhar, Cvetka, Oblak, Irena, Stražišar, Branka, Štrbac, Danijela, Matos, Erika, Mencinger, Marina, Vrbnjak, Marko, Saje, Marko, Radovanovic, Mirjana, Jeras, Katja, Bukovec, Lucija, Terzic, Tea, Minichmayr, Iris, Nanah, Abdulaziz, Nielsen, Elisabet, Zou, Yuanxi, Lauschke, Volker, Johansson, Inger, Zhou, Yitian, Nordling, Åsa, Aigner, Christof, Dames-Ludwig, Marlies, Monteforte, Rossella, Sunder-Plassmann, Raute, Steinhauser, Corinna, Sengoelge, Guerkan, Winnicki, Wolfgang, Schmidt, Alice, Vasileios, Fragoulakis, Fontana, Vanessa, Hanson, Anita, Little, Margaret, Hornby, Rachael, Dello Russo, Cinzia, French, Stephanie, Hampson, Jamie, Gumustekin, Mukaddes, Anyfantis, George, Hampson, Lucy, Lewis, David, Westhead, Ruth, Prince, Clare, Rajasingam, Arjunan, Swen, Jesse J, van der Wouden, Cathelijne H, Manson, Lisanne EN, Abdullah-Koolmees, Heshu, Blagec, Kathrin, Blagus, Tanja, Böhringer, Stefan, Cambon-Thomsen, Anne, Cecchin, Erika, Cheung, Ka-Chun, Deneer, Vera HM, Dupui, Mathilde, Ingelman-Sundberg, Magnus, Jonsson, Siv, Joefield-Roka, Candace, Just, Katja S, Karlsson, Mats O, Konta, Lidija, Koopmann, Rudolf, Kriek, Marjolein, Lehr, Thorsten, Mitropoulou, Christina, Rial-Sebbag, Emmanuelle, Rollinson, Victoria, Roncato, Rossana, Samwald, Matthias, Schaeffeler, Elke, Skokou, Maria, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia C, Tremmel, Roman, Turner, Richard M, van Rhenen, Mandy H, Dávila Fajardo, Cristina L, Dolžan, Vita, Patrinos, George P, Pirmohamed, Munir, Sunder-Plassmann, Gere, Toffoli, Giuseppe, and Guchelaar, Henk-Jan

Published
2023
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10. Homophilic Interaction Between Transmembrane-JAM-A and Soluble JAM-A Regulates Thrombo-Inflammation: Implications for Coronary Artery Disease

Author

Rath, Dominik, Rapp, Vera, Schwartz, Jessica, Winter, Stefan, Emschermann, Frederic, Arnold, Daniel, Rheinlaender, Johannes, Büttcher, Manuela, Strebl, Michael, Braun, Michael B., Altgelt, Konstanze, Uribe, Álvaro Petersen, Schories, Christoph, Canjuga, Denis, Schaeffeler, Elke, Borst, Oliver, Schäffer, Tilman E., Langer, Harald, Stehle, Thilo, Schwab, Matthias, Geisler, Tobias, Gawaz, Meinrad, and Chatterjee, Madhumita

Published
2022
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12. A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy

Author

Büttner, Florian A., Winter, Stefan, Stühler, Viktoria, Rausch, Steffen, Hennenlotter, Jörg, Füssel, Susanne, Zastrow, Stefan, Meinhardt, Matthias, Toma, Marieta, Jerónimo, Carmen, Henrique, Rui, Miranda-Gonçalves, Vera, Kröger, Nils, Ribback, Silvia, Hartmann, Arndt, Agaimy, Abbas, Stöhr, Christine, Polifka, Iris, Fend, Falko, Scharpf, Marcus, Comperat, Eva, Wasinger, Gabriel, Moch, Holger, Stenzl, Arnulf, Gerlinger, Marco, Bedke, Jens, Schwab, Matthias, and Schaeffeler, Elke

Published
2022
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13. Genetic and Epigenetic Regulation of Organic Cation Transporters

Author

Kölz, Charlotte, Schaeffeler, Elke, Schwab, Matthias, Nies, Anne T., Barrett, James E., Editor-in-Chief, Flockerzi, Veit, Editorial Board Member, Frohman, Michael A., Editorial Board Member, Geppetti, Pierangelo, Editorial Board Member, Hofmann, Franz B., Editorial Board Member, Kuner, Rohini, Editorial Board Member, Michel, Martin C., Editorial Board Member, Page, Clive P., Editorial Board Member, Wang, KeWei, Editorial Board Member, and Daws, Lynette C., editor

Published
2021
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14. Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemia

Author

Stanulla, Martin, Schaeffeler, Elke, Möricke, Anja, Buchmann, Swantje, Zimmermann, Martin, Igel, Svitlana, Schmiegelow, Kjeld, Flotho, Christian, Hartmann, Hans, Illsinger, Sabine, Sauerbrey, Axel, Junk, Stefanie V., Schütte, Peter, Hinze, Laura, Lauten, Melchior, Modlich, Simon, Kolb, Reinhard, Rossig, Claudia, Schwabe, Georg, Gnekow, Astrid K., Fleischhack, Gudrun, Schlegel, Paul Gerhard, Schünemann, Holger J., Kratz, Christian P., Cario, Gunnar, Schrappe, Martin, and Schwab, Matthias

Published
2021
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15. Platelet surface expression of cyclophilin A is associated with increased mortality in patients with symptomatic coronary artery disease

Author

Rath, Dominik, von Ungern‐Sternberg, Saskia, Heinzmann, David, Sigle, Manuel, Monzien, Mona, Horstmann, Katja, Schaeffeler, Elke, Winter, Stefan, Müller, Karin, Groga‐Bada, Patrick, Zdanyte, Monika, Borst, Oliver, Zernecke, Alma, Gawaz, Meinrad, Martus, Peter, Schwab, Matthias, Geisler, Tobias, and Seizer, Peter

Published
2020
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23. Nutrimetric Validation of Solanidine as Dietary‐Derived CYP2D6 Activity Marker In Vivo.

Author

Müller, Julian Peter, Sarömba, Jens, Ziegler, Patrick, Tremmel, Roman, Rengelshausen, Jens, Schaeffeler, Elke, Just, Katja S., Schwab, Matthias, Kraus, Thomas, and Stingl, Julia C.

Subjects
METOPROLOL, CYTOCHROME P-450 CYP2D6, LIQUID chromatography-mass spectrometry, STEROIDAL alkaloids, POTATOES, DRUG metabolism, DRUG efficacy
Abstract

CYP2D6 is involved in the metabolism of many drugs. Its activity is affected by pharmacogenetic variability leading to highly polymorphic phenotypes between individuals, affecting safety and efficacy of drugs. Recently, solanidine, a steroidal alkaloid from potatoes, and its metabolites, has been identified as a dietary‐derived activity marker for CYP2D6. The intraday variability in plasma within individuals has not been studied yet in healthy subjects. As part of a CYP phenotyping cocktail study with 20 healthy participants, plasma concentrations of solanidine, 4‐OH‐solanidine and 3,4‐secosolanidine‐3,4‐dioic acid (SSDA) were determined using a sensitive liquid chromatography‐mass spectrometry method in urine and in plasma at timepoints 0, 2.5, 5, 8, and 24 hours after intake of test substances. The participants were phenotyped for CYP2D6 with oral metoprolol (12.5 mg) with 15 plasma sampling points over 24 hours (DRKS00028922). Metabolic ratios (MRs) of metabolite to parent plasma concentrations were formed from single timepoints and the area under the curve (AUC). All participants were genotyped for CYP2D6. The intra‐individual variability of the CYP2D6 metabolite SSDA was highly stable with a median SD of 11.62% over 24 hours. MR SSDA/solanidine was more variable (median SD 31.90%) but correlated significantly at all measured timepoints with AUC MR α‐OH‐metoprolol/metoprolol. The AUC MR SSDA/solanidine showed a significant linear relationship with the genetically predicted CYP2D6 activity score. This study substantiates the MR SSDA/solanidine as CYP2D6 activity marker. The high correlation with metoprolol MR indicates a valid prediction of the CYP2D6 phenotype at any timepoint during the study day. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Circulating Biomarkers Instead of Genotyping to Establish Metabolizer Phenotypes.

Author

Tremmel, Roman, Hofmann, Ute, Haag, Mathias, Schaeffeler, Elke, and Schwab, Matthias

Subjects
PREVENTION of drug side effects, BIOMARKERS, PHARMACOGENOMICS, EXOSOMES, ARTIFICIAL intelligence, INDIVIDUALIZED medicine, GENOTYPES, PREDICTION models, PHENOTYPES, DOSE-response relationship in biochemistry, DOSAGE forms of drugs
Abstract

Pharmacogenomics (PGx) enables personalized treatment for the prediction of drug response and to avoid adverse drug reactions. Currently, PGx mainly relies on the genetic information of absorption, distribution, metabolism, and excretion (ADME) targets such as drug-metabolizing enzymes or transporters to predict differences in the patient's phenotype. However, there is evidence that the phenotype-genotype concordance is limited. Thus, we discuss different phenotyping strategies using exogenous xenobiotics (e.g., drug cocktails) or endogenous compounds for phenotype prediction. In particular, minimally invasive approaches focusing on liquid biopsies offer great potential to preemptively determine metabolic and transport capacities. Early studies indicate that ADME phenotyping using exosomes released from the liver is reliable. In addition, pharmacometric modeling and artificial intelligence improve phenotype prediction. However, further prospective studies are needed to demonstrate the clinical utility of individualized treatment based on phenotyping strategies, not only relying on genetics. The present review summarizes current knowledge and limitations. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Platelets and Polymorphisms

Author

Geisler, Tobias, Schaeffeler, Elke, Schwab, Matthias, Hecker, Markus, Editor-in-Chief, Backs, Johannes, Series Editor, Freichel, Marc, Series Editor, Korff, Thomas, Series Editor, Thomas, Dierk, Series Editor, Zirlik, Andreas, editor, Bode, Christoph, editor, and Gawaz, Meinrad, editor

Published
2017
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30. Abstract 44: An in vivo platform of pre-characterized renal cell carcinoma (RCC) patient-derived xenograft models allows the preclinical evaluation of patient-tailored intervention strategies

Author

Kobelt, Dennis, primary, Gürgen, Dennis, additional, Becker, Michael, additional, Dahlmann, Mathias, additional, Flechsig, Susanne, additional, Schaeffeler, Elke, additional, Büttner, Florian A., additional, Schmees, Christian, additional, Bohnert, Regina, additional, Bedke, Jens, additional, Schwab, Matthias, additional, Wendler, Johann J., additional, Schostak, Martin, additional, Jandrig, Burkhard, additional, Walther, Wolfgang, additional, and Hoffmann, Jens, additional

Published
2023
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31. Data from Selective Inhibition of the Lactate Transporter MCT4 Reduces Growth of Invasive Bladder Cancer

Author

Todenhöfer, Tilman, primary, Seiler, Roland, primary, Stewart, Craig, primary, Moskalev, Igor, primary, Gao, Jian, primary, Ladhar, Simroop, primary, Kamjabi, Alireza, primary, Al Nakouzi, Nader, primary, Hayashi, Tetsuharo, primary, Choi, Stephen, primary, Wang, Yuzhuo, primary, Frees, Sebastian, primary, Daugaard, Mads, primary, Oo, Htoo Zarni, primary, Fisel, Pascale, primary, Schwab, Matthias, primary, Schaeffeler, Elke, primary, Douglas, James, primary, Hennenlotter, Jörg, primary, Bedke, Jens, primary, Gibb, Ewan A., primary, Fazli, Ladan, primary, Stenzl, Arnulf, primary, and Black, Peter C., primary

Published
2023
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32. Supplementary Data from Selective Inhibition of the Lactate Transporter MCT4 Reduces Growth of Invasive Bladder Cancer

Author

Todenhöfer, Tilman, primary, Seiler, Roland, primary, Stewart, Craig, primary, Moskalev, Igor, primary, Gao, Jian, primary, Ladhar, Simroop, primary, Kamjabi, Alireza, primary, Al Nakouzi, Nader, primary, Hayashi, Tetsuharo, primary, Choi, Stephen, primary, Wang, Yuzhuo, primary, Frees, Sebastian, primary, Daugaard, Mads, primary, Oo, Htoo Zarni, primary, Fisel, Pascale, primary, Schwab, Matthias, primary, Schaeffeler, Elke, primary, Douglas, James, primary, Hennenlotter, Jörg, primary, Bedke, Jens, primary, Gibb, Ewan A., primary, Fazli, Ladan, primary, Stenzl, Arnulf, primary, and Black, Peter C., primary

Published
2023
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33. Genetic variants of Wnt transcription factor TCF-4 (TCF7L2) putative promoter region are associated with small intestinal Crohn's disease.

Author

Koslowski, Maureen J, Kübler, Irmgard, Chamaillard, Mathias, Schaeffeler, Elke, Reinisch, Walter, Wang, Guoxing, Beisner, Julia, Teml, Alexander, Peyrin-Biroulet, Laurent, Winter, Stefan, Herrlinger, Klaus R, Rutgeerts, Paul, Vermeire, Séverine, Cooney, Rachel, Fellermann, Klaus, Jewell, Derek, Bevins, Charles L, Schwab, Matthias, Stange, Eduard F, and Wehkamp, Jan

Subjects
Paneth Cells, Ileum, Humans, Crohn Disease, Genetic Predisposition to Disease, Sequence Analysis, DNA, Genotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Alleles, Adolescent, Adult, Female, Male, TCF Transcription Factors, Nod2 Signaling Adaptor Protein, Promoter Regions, Genetic, Genetic Variation, Young Adult, Transcription Factor 7-Like 2 Protein, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Sequence Analysis, DNA, General Science & Technology
Abstract

Reduced expression of Paneth cell antimicrobial alpha-defensins, human defensin (HD)-5 and -6, characterizes Crohn's disease (CD) of the ileum. TCF-4 (also named TCF7L2), a Wnt signalling pathway transcription factor, orchestrates Paneth cell differentiation, directly regulates the expression of HD-5 and -6, and was previously associated with the decrease of these antimicrobial peptides in a subset of ileal CD. To investigate a potential genetic association of TCF-4 with ileal CD, we sequenced 2.1 kb of the 5' flanking region of TCF-4 in a small group of ileal CD patients and controls (n = 10 each). We identified eight single nucleotide polymorphisms (SNPs), of which three (rs3814570, rs10885394, rs10885395) were in linkage disequilibrium and found more frequently in patients; one (rs3814570) was thereby located in a predicted regulatory region. We carried out high-throughput analysis of this SNP in three cohorts of inflammatory bowel disease (IBD) patients and controls. Overall 1399 healthy individuals, 785 ulcerative colitis (UC) patients, 225 CD patients with colonic disease only and 784 CD patients with ileal involvement were used to determine frequency distributions. We found an association of rs3814570 with ileal CD but neither with colonic CD or UC, in a combined analysis (allele positivity: OR 1.27, 95% CI 1.07 to 1.52, p = 0.00737), which was the strongest in ileal CD patients with stricturing behaviour (allele frequency: OR 1.32, 95% CI 1.08 to1.62, p = 0.00686) or an additional involvement of the upper GIT (allele frequency: OR 1.38, 95% CI 1.03 to1.84, p = 0.02882). The newly identified genetic association of TCF-4 with ileal CD provides evidence that the decrease in Paneth cell alpha-defensins is a primary factor in disease pathogenesis.

Published
2009

34. A 12-gene pharmacogenetic panel to prevent adverse drug reactions : an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Author

Swen, JesseJ, van der Wouden, Cathelijne H., Manson, Lisanne E. N., Abdullah-Koolmees, Heshu, Blagec, Kathrin, Blagus, Tanja, Böhringer, Stefan, Cambon-Thomsen, Anne, Cecchin, Erika, Cheung, Ka-Chun, Deneer, Vera H. M., Dupui, Mathilde, Ingelman-Sundberg, Magnus, Jönsson, Siv, Joefield-Roka, Candace, Just, Katja S., Karlsson, Mats, Konta, Lidija, Koopmann, Rudolf, Kriek, Marjolein, Lehr, Thorsten, Mitropoulou, Christina, Rial-Sebbag, Emmanuelle, Rollinson, Victoria, Roncato, Rossana, Samwald, Matthias, Schaeffeler, Elke, Skokou, Maria, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia C., Tremmel, Roman, Turner, Richard M., van Rhenen, Mandy H., Fajardo, Cristina L. Davila, Dolzan, Vita, Patrinos, George P., Pirmohamed, Munir, Sunder-Plassmann, Gere, Toffoli, Giuseppe, Guchelaar, Henk-Jan, Swen, JesseJ, van der Wouden, Cathelijne H., Manson, Lisanne E. N., Abdullah-Koolmees, Heshu, Blagec, Kathrin, Blagus, Tanja, Böhringer, Stefan, Cambon-Thomsen, Anne, Cecchin, Erika, Cheung, Ka-Chun, Deneer, Vera H. M., Dupui, Mathilde, Ingelman-Sundberg, Magnus, Jönsson, Siv, Joefield-Roka, Candace, Just, Katja S., Karlsson, Mats, Konta, Lidija, Koopmann, Rudolf, Kriek, Marjolein, Lehr, Thorsten, Mitropoulou, Christina, Rial-Sebbag, Emmanuelle, Rollinson, Victoria, Roncato, Rossana, Samwald, Matthias, Schaeffeler, Elke, Skokou, Maria, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia C., Tremmel, Roman, Turner, Richard M., van Rhenen, Mandy H., Fajardo, Cristina L. Davila, Dolzan, Vita, Patrinos, George P., Pirmohamed, Munir, Sunder-Plassmann, Gere, Toffoli, Giuseppe, and Guchelaar, Henk-Jan

Abstract

Background: The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene-drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed. Methods: We conducted an open-label, multicentre, controlled, cluster-randomised, crossover implementation study of a 12-gene pharmacogenetic panel in 18 hospitals, nine community health centres, and 28 community pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK). Patients aged 18 years or older receiving a first prescription for a drug clinically recommended in the guidelines of the Dutch Pharmacogenetics Working Group (ie, the index drug) as part of routine care were eligible for inclusion. Exclusion criteria included previous genetic testing for a gene relevant to the index drug, a planned duration of treatment of less than 7 consecutive days, and severe renal or liver insufficiency. All patients gave written informed consent before taking part in the study. Participants were genotyped for 50 germline variants in 12 genes, and those with an actionable variant (ie, a drug-gene interaction test result for which the Dutch Pharmacogenetics Working Group [DPWG] recommended a change to standard-of-care drug treatment) were treated according to DPWG recommendations. Patients in the control group received standard treatment. To prepare clinicians for pre-emptive pharmacogenetic testing, local teams were educated during a site-initiation visit and online educational material was made available. The primary outcome was the occurrence of clinically relevant adverse drug reactions within the 12-week follow-up period. Analyses were irrespective of patient adherence to the DPWG guidelines. The primary analysis was done using a gatekeeping analysis, in which outcomes in people with an actionable drug-gene interaction in the study group versus the

Published
2023
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36. Integrative -omics and HLA-ligandomics analysis to identify novel drug targets for ccRCC immunotherapy

Author

Reustle, Anna, Di Marco, Moreno, Meyerhoff, Carolin, Nelde, Annika, Walz, Juliane S., Winter, Stefan, Kandabarau, Siahei, Büttner, Florian, Haag, Mathias, Backert, Linus, Kowalewski, Daniel J., Rausch, Steffen, Hennenlotter, Jörg, Stühler, Viktoria, Scharpf, Marcus, Fend, Falko, Stenzl, Arnulf, Rammensee, Hans-Georg, Bedke, Jens, Stevanović, Stefan, Schwab, Matthias, and Schaeffeler, Elke

Published
2020
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37. Supplementary Tables from Cellular Uptake of Imatinib into Leukemic Cells Is Independent of Human Organic Cation Transporter 1 (OCT1)

Author

Nies, Anne T., primary, Schaeffeler, Elke, primary, van der Kuip, Heiko, primary, Cascorbi, Ingolf, primary, Bruhn, Oliver, primary, Kneba, Michael, primary, Pott, Christiane, primary, Hofmann, Ute, primary, Volk, Christopher, primary, Hu, Shuiying, primary, Baker, Sharyn D., primary, Sparreboom, Alex, primary, Ruth, Peter, primary, Koepsell, Hermann, primary, and Schwab, Matthias, primary

Published
2023
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38. Supplementary Figures from Cellular Uptake of Imatinib into Leukemic Cells Is Independent of Human Organic Cation Transporter 1 (OCT1)

Author

Nies, Anne T., primary, Schaeffeler, Elke, primary, van der Kuip, Heiko, primary, Cascorbi, Ingolf, primary, Bruhn, Oliver, primary, Kneba, Michael, primary, Pott, Christiane, primary, Hofmann, Ute, primary, Volk, Christopher, primary, Hu, Shuiying, primary, Baker, Sharyn D., primary, Sparreboom, Alex, primary, Ruth, Peter, primary, Koepsell, Hermann, primary, and Schwab, Matthias, primary

Published
2023
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39. Data from Cellular Uptake of Imatinib into Leukemic Cells Is Independent of Human Organic Cation Transporter 1 (OCT1)

Author

Nies, Anne T., primary, Schaeffeler, Elke, primary, van der Kuip, Heiko, primary, Cascorbi, Ingolf, primary, Bruhn, Oliver, primary, Kneba, Michael, primary, Pott, Christiane, primary, Hofmann, Ute, primary, Volk, Christopher, primary, Hu, Shuiying, primary, Baker, Sharyn D., primary, Sparreboom, Alex, primary, Ruth, Peter, primary, Koepsell, Hermann, primary, and Schwab, Matthias, primary

Published
2023
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40. Supplementary Methods from Cellular Uptake of Imatinib into Leukemic Cells Is Independent of Human Organic Cation Transporter 1 (OCT1)

Author

Nies, Anne T., primary, Schaeffeler, Elke, primary, van der Kuip, Heiko, primary, Cascorbi, Ingolf, primary, Bruhn, Oliver, primary, Kneba, Michael, primary, Pott, Christiane, primary, Hofmann, Ute, primary, Volk, Christopher, primary, Hu, Shuiying, primary, Baker, Sharyn D., primary, Sparreboom, Alex, primary, Ruth, Peter, primary, Koepsell, Hermann, primary, and Schwab, Matthias, primary

Published
2023
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41. Supplementary Methods and Tables and Figures from DNA Methylation of the SLC16A3 Promoter Regulates Expression of the Human Lactate Transporter MCT4 in Renal Cancer with Consequences for Clinical Outcome

Author

Fisel, Pascale, primary, Kruck, Stephan, primary, Winter, Stefan, primary, Bedke, Jens, primary, Hennenlotter, Jörg, primary, Nies, Anne T., primary, Scharpf, Marcus, primary, Fend, Falko, primary, Stenzl, Arnulf, primary, Schwab, Matthias, primary, and Schaeffeler, Elke, primary

Published
2023
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42. Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL Study Group

Author

Junk, Stefanie, primary, Schaeffeler, Elke, additional, Zimmermann, Martin, additional, Möricke, Anja, additional, Beier, Rita, additional, Schütte, Peter, additional, Fedders, Birthe, additional, Alten, Julia, additional, Hinze, Laura, additional, Klein, Norman, additional, Kulozik, Andreas, additional, Muckenthaler, Martina, additional, Koehler, Rolf, additional, Borkhardt, Arndt, additional, Vijayakrishnan, Jayaram, additional, Ellinghaus, David, additional, Forster, Michael, additional, Franke, Andre, additional, Wintering, Astrid, additional, Kratz, Christian, additional, Schrappe, Martin, additional, Schwab, Matthias, additional, Houlston, Richard, additional, Cario, Gunnar, additional, and Stanulla, Martin, additional

Published
2023
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43. Cross‐Ancestry Genome‐Wide Association Study Defines the Extended CYP2D6 Locus as the Principal Genetic Determinant of Endoxifen Plasma Concentrations

Author

Khor, Chiea Chuen, primary, Winter, Stefan, additional, Sutiman, Natalia, additional, Mürdter, Thomas E., additional, Chen, Sylvia, additional, Lim, Joanne Siok Liu, additional, Li, Zheng, additional, Li, Jingmei, additional, Sim, Kar Seng, additional, Ganchev, Boian, additional, Eccles, Diana, additional, Eccles, Bryony, additional, Tapper, William, additional, Zgheib, Nathalie K., additional, Tfayli, Arafat, additional, Ng, Raymond Chee Hui, additional, Yap, Yoon Sim, additional, Lim, Elaine, additional, Wong, Mabel, additional, Wong, Nan Soon, additional, Ang, Peter Cher Siang, additional, Dent, Rebecca, additional, Tremmel, Roman, additional, Klein, Kathrin, additional, Schaeffeler, Elke, additional, Zhou, Yitian, additional, Lauschke, Volker M., additional, Eichelbaum, Michel, additional, Schwab, Matthias, additional, Brauch, Hiltrud B., additional, Chowbay, Balram, additional, and Schroth, Werner, additional

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2023
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50. Additional file 1 of Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group

Author

Junk, Stefanie V., Schaeffeler, Elke, Zimmermann, Martin, Möricke, Anja, Beier, Rita, Schütte, Peter, Fedders, Birthe, Alten, Julia, Hinze, Laura, Klein, Norman, Kulozik, Andreas, Muckenthaler, Martina U., Koehler, Rolf, Borkhardt, Arndt, Vijayakrishnan, Jayaram, Ellinghaus, David, Forster, Michael, Franke, Andre, Wintering, Astrid, Kratz, Christian P., Schrappe, Martin, Schwab, Matthias, Houlston, Richard S., Cario, Gunnar, and Stanulla, Martin

Abstract

Additional file 1: Suppl. Table 1. Treatment details of protocol AIEOP-BFM ALL 2000. Suppl. Table 2. Clinical characteristics of the patients in the study cohort by severity of bilirubin toxicity during induction/consolidation (protocols IA/IB, n = 1547). Suppl. Table 3. Characteristics of the patients in the GWAS discovery cohort by serum bilirubin levels during induction/consolidation (n = 650). Suppl. Table 4. Characteristics of the patients in the GWAS discovery cohort compared to all patients of the study cohort with toxicity information. Suppl. Table 5. Summary of genome-wide association analysis for therapy-related hyperbilirubinemia during induction/consolidation (protocols IA/IB). Suppl. Table 6. Allelic association of hyperbilirubinemia phenotype with the 20 most strongly associated variants around rs6744284 resulting from genotype imputation. Suppl. Table 7. Genotypic association between hyperbilirubinemia phenotype and the 20 most strongly associated SNV around rs6744284 after genotype imputation. Suppl. Table 8. Adjusted genotypic association of rs6744284 with hyperbilirubinemia during protocols IA/IB and later therapeutic elements, including age and immunophenotype as covariates. Suppl. Table 9. Genotypic association of rs6744284 with hyperbilirubinemia phenotype stratified for potential effect modifiers. Suppl. Table 10. Characteristics of acute lymphoblastic leukemia (ALL) patients included in the replication cohort (n = 224). Suppl. Table 11. Characteristics of acute lymphoblastic leukemia (ALL) patients included in subsequent UGT1A1*28/*37 genotyping (n = 544). Suppl. Table 12. Association of identified risk loci and known Gilbert’s syndrome related variants with hyperbilirubinemia. Suppl. Table 13. Correlation of rs6744284 with imputed top SNV and UGT1A variations related to hyperbilirubinemia and the Gilbert’s syndrome. Suppl. information on the correlation analysis of known Gilbert’s syndrome (GS) related variations with rs6744284. Suppl. information on the impact of hyperbilirubinemia on therapy delays in the discovery cohort. Suppl. Table 14. Clinical characteristics of the acute lymphoblastic leukemia (ALL) patients of the discovery cohort according to the severity of bilirubin toxicity during induction/consolidation (protocols IA/IB, n = 650). Suppl. Table 15. Estimated hazard ratios from the multivariable Cox proportional model on the hazard of relapse in patients with high hyperbilirubinemia (≥CTC grade 3) during induction and/or consolidation (n = 68). Suppl. Fig. 1. Consolidated Standards of Reporting Trials (CONSORT) diagram of inclusion criteria for the study population (N = 1547). Suppl. Fig. 2. Estimated 5-year event-free survival (EFS) and cumulative incidence of relapse (CIR) at 5 years in the study cohort by the maximum transaminase levels during protocol IA/IB [%]. Suppl. Fig. 3. Regional plot of association results and recombination rates for the identified risk locus in the UGT1A region (2q37). Suppl. Fig. 4. Total serum bilirubin levels by treatment element and rs6744284 genotype. Suppl. Fig. 5. Estimated 5-year event-free survival (EFS) and cumulative incidence of relapse (CIR) at 5 years in the discovery cohort by the maximum transaminase levels during protocol IA/IB [%].

Published
2023
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