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4. The ABCG8 polymorphism increases the risk of gallbladder cancer in the general population and gallstones in obese patients from Poland

Author

Krupa, Lukasz, primary, Kalinowski, Piotr, additional, Ligocka, Joanna, additional, Dauer, Marc, additional, Jankowski, Krzysztof, additional, Gozdowska, Jolanta, additional, Kruk, Beata, additional, Milkiewicz, Piotr, additional, Zieniewicz, Krzysztof, additional, Krawczyk, Marek, additional, Weber, Susanne N., additional, Lammert, Frank, additional, and Krawczyk, Marcin, additional

Published
2024
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11. The genetic background of NAFLD patients markedly affects their metabolomic and lipidomic signatures

Author

Jegodzinski, Lina, primary, Rout, Ashok, additional, Sayk, Friedhelm, additional, Schmelter, Franziska, additional, Föh, Bandik, additional, Dobbermann, Henrike, additional, Herr, Monika, additional, Meyhöfer, Sebastian, additional, Meyhöfer, Svenja, additional, Rau, Monika, additional, Weber, Susanne N, additional, Krawczyk, Marcin, additional, Geier, Andreas, additional, Gunther, Ulrich, additional, and Marquardt, Jens, additional

Published
2023
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12. Genetic variant in the hepatic sterol transporter is associated with increased gallstone risk in obese patients and with higher odds of developing gallbladder cancer in general

Author

Kalinowski, Piotr, primary, Ligocka, Joanna, additional, Krupa, Łukasz, additional, Dauer, Marc, additional, Jankowski, Krzysztof, additional, Gozdowska, Jolanta, additional, Kruk, Beata, additional, Weber, Susanne N, additional, Lammert, Frank, additional, and Krawczyk, Marcin, additional

Published
2023
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14. Common variation in FAM155A is associated with diverticulitis but not diverticulosis

Author

Reichert, Matthias C., Kupcinskas, Juozas, Schulz, Antje, Schramm, Christoph, Weber, Susanne N., Krawczyk, Marcin, Jüngst, Christoph, Casper, Markus, Grünhage, Frank, Appenrodt, Beate, Zimmer, Vincent, Tamelis, Algimantas, Lukosiene, Jaune I., Pauziene, Neringa, Kiudelis, Gediminas, Jonaitis, Laimas, Goeser, Tobias, Malinowski, Maciej, Glanemann, Matthias, Kupcinskas, Limas, and Lammert, Frank

Published
2020
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16. Influence of NOD2 risk variants on hepatic encephalopathy and association with inflammation, bacterial translocation and immune activation

Author

Ripoll, Cristina, primary, Greinert, Robin, additional, Reuken, Philipp, additional, Reichert, Matthias Christian, additional, Weber, Susanne N., additional, Hupfer, Yvonne, additional, Staltner, Raphaela, additional, Meier Clinien, Magdalena, additional, Lammert, Frank, additional, Bruns, Tony, additional, and Zipprich, Alexander, additional

Published
2023
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18. Liver phenotypes in PCOS: Analysis of exogenous and inherited risk factors for liver injury in two European cohorts

Author

Smyk, Wiktor, Papapostoli, Ifigeneia, Żorniak, Michał, Sklavounos, Panagiotis, Blukacz, Łukasz, Madej, Paweł, Koutsou, Andreani, Weber, Susanne N., Friesenhahn‐Ochs, Bettina, Cebula, Maciej, Bosowska, Joanna, Solomayer, Erich‐Franz, Hartleb, Marek, Milkiewicz, Piotr, Lammert, Frank, Stokes, Caroline, Krawczyk, Marcin, Smyk, Wiktor, Papapostoli, Ifigeneia, Żorniak, Michał, Sklavounos, Panagiotis, Blukacz, Łukasz, Madej, Paweł, Koutsou, Andreani, Weber, Susanne N., Friesenhahn‐Ochs, Bettina, Cebula, Maciej, Bosowska, Joanna, Solomayer, Erich‐Franz, Hartleb, Marek, Milkiewicz, Piotr, Lammert, Frank, Stokes, Caroline, and Krawczyk, Marcin

Abstract

Background & Aims Fatty liver disease (FLD) is common in women with polycystic ovary syndrome (PCOS). Here, we use non-invasive tests to quantify liver injury in women with PCOS and analyse whether FLD-associated genetic variants contribute to liver phenotypes in PCOS. Methods Prospectively, we recruited women with PCOS and controls at two university centres in Germany and Poland. Alcohol abuse was regarded as an exclusion criterion. Genotyping of variants associated with FLD was performed using TaqMan assays. Liver stiffness measurements (LSM), controlled attenuation parameters (CAP) and non-invasive HSI, FLI, FIB-4 scores were determined to assess hepatic steatosis and fibrosis. Results A total of 42 German (age range 18–53 years) and 143 Polish (age range 18–40 years) women with PCOS, as well as 245 German and 289 Polish controls were recruited. In contrast to Polish patients, Germans were older, presented with more severe metabolic profiles and had significantly higher LSM (median 5.9 kPa vs. 3.8 kPa). In the German cohort, carriers of the PNPLA3 p.I148M risk variant had an increased LSM (p = .01). In the Polish cohort, the minor MTARC1 allele was linked with significantly lower serum aminotransferases activities, whereas the HSD17B13 polymorphism was associated with lower concentrations of 17-OH progesterone, total testosterone, and androstenedione (all p < .05). Conclusions FLD is common in women with PCOS. Its extent is modulated by both genetic and metabolic risk factors. Genotyping of variants associated with FLD might help to stratify the risk of liver disease progression in women suffering from PCOS., Peer Reviewed

Published
2023

20. Liver phenotypes in PCOS : Analysis of exogenous and inherited risk factors for liver injury in two European cohorts

Author

Smyk, Wiktor, primary, Papapostoli, Ifigeneia, additional, Żorniak, Michał, additional, Sklavounos, Panagiotis, additional, Blukacz, Łukasz, additional, Madej, Paweł, additional, Koutsou, Andreani, additional, Weber, Susanne N., additional, Friesenhahn‐Ochs, Bettina, additional, Cebula, Maciej, additional, Bosowska, Joanna, additional, Solomayer, Erich‐Franz, additional, Hartleb, Marek, additional, Milkiewicz, Piotr, additional, Lammert, Frank, additional, Stokes, Caroline S., additional, and Krawczyk, Marcin, additional

Published
2023
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23. Fatty liver disease in PCOS: metabolic, genetic and hormonal phenotypes of two independent European cohorts

Author

Smyk, Wiktor, additional, Papapostoli, Ifigeneia, additional, Żorniak, Michał, additional, Sklavounos, Panagiotis, additional, Blukacz, Łukasz, additional, Madej, Paweł, additional, Koutsou, Andreani, additional, Weber, Susanne N., additional, Friesenhahn-Ochs, Bettina, additional, Cebula, Maciej, additional, Bosowska, Joanna, additional, Solomayer, Erich-Franz, additional, Hartleb, Marek, additional, Milkiewicz, Piotr, additional, Lammert, Frank, additional, Stokes, Caroline S., additional, and Krawczyk, Marcin, additional

Published
2023
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29. MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery

Author

Kalinowski, Piotr, primary, Smyk, Wiktor, additional, Nowosad, Małgorzata, additional, Paluszkiewicz, Rafał, additional, Michałowski, Łukasz, additional, Ziarkiewicz-Wróblewska, Bogna, additional, Weber, Susanne N., additional, Milkiewicz, Piotr, additional, Lammert, Frank, additional, Zieniewicz, Krzysztof, additional, and Krawczyk, Marcin, additional

Published
2022
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30. SEC62 and SEC63 Expression in Hepatocellular Carcinoma and Tumor-Surrounding Liver Tissue

Author

Casper, Markus, Linxweiler, Maximilian, Linxweiler, Johannes, Zimmermann, Richard, Glanemann, Matthias, Lammert, Frank, and Weber, Susanne N.

Subjects
Hepatocarcinogenesis, Intracellular signaling, Chronic liver disease, Gene expression, Liver tumor, Immunohistochemistry, Liver cancer, Endoplasmic reticulum, Research Article
Abstract

INTRODUCTION: The endoplasmic reticulum transmembrane proteins Sec61, Sec62, and Sec63 are responsible for the intracellular trafficking of precursor proteins and affect intracellular signaling. SEC62 overexpression has been linked to various human cancers. Our aim was to investigate SEC62 and SEC63 expression in hepatocellular carcinoma (HCC) and surrounding liver tissue. PATIENTS AND METHODS: Primary liver tissue was collected from 11 consecutive patients (70 ± 9 years; 10 men) who underwent HCC resection. In the HCC and the tumor-surrounding liver tissue we investigated SEC62 und SEC63 mRNA expression using quantitative real-time PCR. For Sec62, immunohistochemistry was performed. RESULTS: SEC62and SEC63 total mRNA contents were significantly (p = 0.001) higher in HCCs (CT 22.5 ± 0.4 and 22.6 ± 0.3) when compared to the surrounding tissue (CT 24.6 ± 0.6 and 25.1 ± 0.9). Using the comparative CTmethod, SEC62 and SEC63 expression in HCC was increased 5- and 8.1-fold, respectively, in comparison to surrounding tissue. For Sec62 immunohistochemistry, the mean immunoreactive scores (IRS) were 7.9 ± 2.9 for HCC and 4.8 ± 1.2 for non-tumorous liver (p = 0.027). The mean IRS in HCC were 5.7 ± 3.5 and 8.9 ± 2.3 for patients without (n = 3) and with tumor recurrence (n = 8), respectively. CONCLUSIONS: Overexpression of SEC62 and SEC63 is a common feature of HCC. The role of Sec62 as a prognostic marker for tumor recurrence after surgery and its potential role in treatment stratification must be addressed in future studies.

Published
2022
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31. The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children

Author

Krawczyk, Marcin, primary, Niewiadomska, Olga, additional, Jankowska, Irena, additional, Jankowski, Krzysztof, additional, Świderska, Jolanta, additional, Lebensztejn, Dariusz, additional, Więcek, Sabina, additional, Gozdowska, Jolanta, additional, Kułaga, Zbigniew, additional, Weber, Susanne N., additional, Lammert, Frank, additional, and Socha, Piotr, additional

Published
2022
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32. Effects of MBOAT7 polymorphism and steatosis on liver function assessed by methacetin breath test.

Author

Di Ciaula, Agostino, Bonfrate, Leonilde, Shanmugam, Harshitha, Weber, Susanne N., Krawczyk, Marcin, and Portincasa, Piero

Subjects
ACOUSTIC radiation force impulse imaging, NON-alcoholic fatty liver disease, HEPATIC fibrosis, BREATH tests, FATTY degeneration
Abstract

Background: MBOAT7 rs641738 variant is a risk factor for nonalcoholic fatty liver disease (NAFLD) and liver fibrosis, but the relationship between this polymorphism and early liver dysfunction remains uncertain. Methods: Eighty outpatients underwent blood analyses, liver imaging by ultrasound and acoustic radiation force impulse shear wave elastography and were genotyped for MBOAT7 (wild‐type [WT], rs641738 heterozygous or homozygous) polymorphism using TaqMan assays. Results: NAFLD was confirmed in 53 patients. Portal uptake and hepatocyte microsomal metabolization of (13C)‐methacetin were explored by measuring 13CO2 appearance in exhaled air. The distribution of the MBOAT7 genotypes was comparable in subjects with or without NAFLD. The majority of subjects with or without NAFLD had fibrosis ≤ F1 but decreased portal extraction of (13C)‐methacetin, i.e. 78.6% in homozygous, 45.0% in heterozygous and 46.2% in WT for the MBOAT7 variant. Both substrate extraction and microsomal metabolization were mostly defective in the homozygous carriers. The extraction efficiency from portal blood flow was minimal in subjects with both homozygous rs641738 polymorphism and NAFLD, as compared to those with WT/heterozygous polymorphism, with or without NAFLD. Conclusions: The homozygous MBOAT7 rs641738 polymorphism per se is associated with a reduced extraction efficiency of (13C)‐methacetin from the portal flow pointing to subclinical liver dysfunction independently from liver fibrosis. Liver steatosis worsens (13C)‐methacetin extraction efficiency. We urge to better explore the mechanisms of interaction between external factors and multiple gene polymorphisms (including MBOAT7), paving the road to primary prevention and novel therapeutic strategies. [ABSTRACT FROM AUTHOR]

Published
2023
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34. MARC1 and HSD17B13 variants have protective effects on liver injury in the obese: results from a prospective cohort of patients undergoing bariatric surgery

Author

Kalinowski, Piotr, primary, Smyk, Wiktor, additional, Nowosad, Małgorzata, additional, Paluszkiewicz, Rafał, additional, Michałowski, Łukasz, additional, Ziarkiewicz-Wróblewska, Bogna, additional, Weber, Susanne N, additional, Lammert, Frank, additional, Zieniewicz, Krzysztof, additional, and Krawczyk, Marcin, additional

Published
2022
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37. Common variant p. D 19 H of the hepatobiliary sterol transporterABCG8increases the risk of gallstones in children

Author

Krawczyk, Marcin, primary, Niewiadomska, Olga, additional, Jankowska, Irena, additional, Jankowski, Krzysztof, additional, Więckowski, Sebastian, additional, Lebensztejn, Dariusz, additional, Więcek, Sabina, additional, Gozdowska, Jolanta, additional, Kułaga, Zbigniew, additional, Weber, Susanne N., additional, Lütjohann, Dieter, additional, Lammert, Frank, additional, and Socha, Piotr, additional

Published
2022
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41. Hepatic steatosis in patients with acromegaly

Author

Koutsou-Tassopoulou, Andreani, Papapostoli-Sklavounou, Ifigeneia, Krawczyk, Marcin, Friesenhahn-Ochs, Bettina, Weber, Susanne N., Lammert, Frank, and Stokes, Caroline S.

Subjects
MBOAT7, nonalcoholic fatty liver disease, adiponutrin, transient elastography, controlled attenuation parameter, TM6SF2
Published
2021
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42. Identification of RARRES1 as a core regulator in liver fibrosis

Author

Teufel, Andreas, Becker, Diana, Weber, Susanne N., Dooley, Steven, Breitkopf-Heinlein, Katja, Maass, Thorsten, Hochrath, Katrin, Krupp, Markus, Marquardt, Jens U., Kolb, Martin, Korn, Bernhard, Niehrs, Christof, Zimmermann, Tim, Godoy, Patricio, Galle, Peter R., and Lammert, Frank

Published
2012
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45. Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality

Author

Schunk, Stefan J., Kleber, Marcus E., März, Winfried, Pang, Shichao, Zewinger, Stephen, Triem, Sarah, Ege, Philipp, Reichert, Matthias C., Krawczyk, Marcin, Weber, Susanne N., Jaumann, Isabella, Schmit, David, Sarakpi, Tamim, Wagenpfeil, Stefan, Kramann, Rafael, Boerwinkle, Eric, Ballantyne, Christie M., Grove, Megan L., Tragante, Vinicius, Pilbrow, Anna P., Richards, A. Mark, Cameron, Vicky A., Doughty, Robert N., Dubé, Marie-Pierre, Tardif, Jean-Claude, Feroz-Zada, Yassamin, Sun, Maxine, Liu, Chang, Ko, Yi-An, Quyyumi, Arshed A., Hartiala, Jaana A., Tang, W. H. Wilson, Hazen, Stanley L., Allayee, Hooman, McDonough, Caitrin W., Gong, Yan, Cooper-DeHoff, Rhonda M., Johnson, Julie A., Scholz, Markus, Teren, Andrej, Burkhardt, Ralph, Martinsson, Andreas, Smith, J. Gustav, Wallentin, Lars, James, Stefan K., Eriksson, Niclas, White, Harvey, Held, Claes, Waterworth, Dawn, Trompet, Stella, Jukema, J. Wouter, Ford, Ian, Stott, David J., Sattar, Naveed, Cresci, Sharon, Spertus, John A., Campbell, Hannah, Tierling, Sascha, Walter, Jörn, Ampofo, Emmanuel, Niemeyer, Barbara A., Lipp, Peter, Schunkert, Heribert, Böhm, Michael, Koenig, Wolfgang, Fliser, Danilo, Laufs, Ulrich, Speer, Thimoteus, Schunk, Stefan J., Kleber, Marcus E., März, Winfried, Pang, Shichao, Zewinger, Stephen, Triem, Sarah, Ege, Philipp, Reichert, Matthias C., Krawczyk, Marcin, Weber, Susanne N., Jaumann, Isabella, Schmit, David, Sarakpi, Tamim, Wagenpfeil, Stefan, Kramann, Rafael, Boerwinkle, Eric, Ballantyne, Christie M., Grove, Megan L., Tragante, Vinicius, Pilbrow, Anna P., Richards, A. Mark, Cameron, Vicky A., Doughty, Robert N., Dubé, Marie-Pierre, Tardif, Jean-Claude, Feroz-Zada, Yassamin, Sun, Maxine, Liu, Chang, Ko, Yi-An, Quyyumi, Arshed A., Hartiala, Jaana A., Tang, W. H. Wilson, Hazen, Stanley L., Allayee, Hooman, McDonough, Caitrin W., Gong, Yan, Cooper-DeHoff, Rhonda M., Johnson, Julie A., Scholz, Markus, Teren, Andrej, Burkhardt, Ralph, Martinsson, Andreas, Smith, J. Gustav, Wallentin, Lars, James, Stefan K., Eriksson, Niclas, White, Harvey, Held, Claes, Waterworth, Dawn, Trompet, Stella, Jukema, J. Wouter, Ford, Ian, Stott, David J., Sattar, Naveed, Cresci, Sharon, Spertus, John A., Campbell, Hannah, Tierling, Sascha, Walter, Jörn, Ampofo, Emmanuel, Niemeyer, Barbara A., Lipp, Peter, Schunkert, Heribert, Böhm, Michael, Koenig, Wolfgang, Fliser, Danilo, Laufs, Ulrich, and Speer, Thimoteus

Abstract

Aims Inflammation plays an important role in cardiovascular disease (CVD) development. The NOD-like receptor protein-3 (NLRP3) inflammasome contributes to the development of atherosclerosis in animal models. Components of the NLRP3 inflammasome pathway such as interleukin-1β can therapeutically be targeted. Associations of genetically determined inflammasome-mediated systemic inflammation with CVD and mortality in humans are unknown. Methods and results We explored the association of genetic NLRP3 variants with prevalent CVD and cardiovascular mortality in 538 167 subjects on the individual participant level in an explorative gene-centric approach without performing multiple testing. Functional relevance of single-nucleotide polymorphisms on NLRP3 inflammasome activation has been evaluated in monocyte-enriched peripheral blood mononuclear cells (PBMCs). Genetic analyses identified the highly prevalent (minor allele frequency 39.9%) intronic NLRP3 variant rs10754555 to affect NLRP3 gene expression. rs10754555 carriers showed significantly higher C-reactive protein and serum amyloid A plasma levels. Carriers of the G allele showed higher NLRP3 inflammasome activation in isolated human PBMCs. In carriers of the rs10754555 variant, the prevalence of coronary artery disease was significantly higher as compared to non-carriers with a significant interaction between rs10754555 and age. Importantly, rs10754555 carriers had significantly higher risk for cardiovascular mortality during follow-up. Inflammasome inducers (e.g. urate, triglycerides, apolipoprotein C3) modulated the association between rs10754555 and mortality. Conclusion The NLRP3 intronic variant rs10754555 is associated with increased systemic inflammation, inflammasome activation, prevalent coronary artery disease, and mortality. This study provides evidence for a substantial role of genetically driven systemic inflammation in CVD and highlights the NLRP3 inflammasome as a therapeutic target.

Published
2021
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47. Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.

Author

Krawczyk, Marcin, Niewiadomska, Olga, Jankowska, Irena, Jankowski, Krzysztof, Więckowski, Sebastian, Lebensztejn, Dariusz, Więcek, Sabina, Gozdowska, Jolanta, Kułaga, Zbigniew, Weber, Susanne N., Lütjohann, Dieter, Lammert, Frank, and Socha, Piotr

Subjects
GALLSTONES, BIOMARKERS, JUVENILE diseases, PHYTOSTEROLS, INTESTINAL absorption, RENAL colic
Abstract

Introduction: Gallstones are increasingly common in children. Genetic analyses of adult cohorts demonstrated that the sterol transporter ABCG8 p.D19H and Gilbert UGT1A1*28 variants enhance the odds of developing gallstones. The genetic background of common lithiasis in children remains unknown. Methods: Overall, 214 children with gallstone disease (1 month–17 years, 107 boys) were inclueded. The control cohorts comprised 214 children (age 6–17 years, 115 boys) and 172 adults (age 40–92 years, 70 men) without gallstones. The ABCG8 p.D19H and UGT1A1*28 polymorphisms as well as ABCB4 (c.504C>T rs1202283, c.711A>T rs2109505) and NPC1L1 variants (p.V1296V rs217434, c.−18C>A rs41279633) were genotyped using TaqMan assays. Serum concentrations of plant sterols and cholesterol precursors were measured by gas chromatography/mass spectrometry. Results: The ABCG8 risk allele was associated with an increased risk of stones (OR = 1.82, p =.03). Children carrying the p.19H allele presented with lower serum concentrations of surrogate markers of intestinal cholesterol absorption and decreased ratios of phytosterols to the cholesterol precursor desmosterol. Carriers of the common NPC1L1 rs217434 allele had an increased gallstone risk compared with stone‐free adults (OR 1.90, p <.01). This variant also affected the ratio of phytosterols to cholesterol precursors (p =.03). Other tested variants were not associated with gallstone risk. Conclusions: The p.D19H ABCG8 and, to a lesser extent, NPC1L1 rs217434 variants increase the risk of early‐onset gallstone formation. These results point to the presence of a common lithogenic pathway in children and adults. [ABSTRACT FROM AUTHOR]

Published
2022
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