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7 results on '"Loehr, Sabine"'

1. Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

Author

Haskamp, Stefan, Bruns, Heiko, Hahn, Madelaine, Hoffmann, Markus, Gregor, Anne, Löhr, Sabine, Hahn, Jonas, Schauer, Christine, Ringer, Mark, Flamann, Cindy, Frey, Benjamin, Lesner, Adam, Thiel, Christian T., Ekici, Arif B., von Hörsten, Stephan, Aßmann, Gunter, Riepe, Claudia, Euler, Maximilien, Schäkel, Knut, Philipp, Sandra, Prinz, Jörg C., Mößner, Rotraut, Kersting, Florina, Sticherling, Michael, Sefiani, Abdelaziz, Lyahyai, Jaber, Sondermann, Wiebke, Oji, Vinzenz, Schulz, Peter, Wilsmann-Theis, Dagmar, Sticht, Heinrich, Schett, Georg, Reis, André, Uebe, Steffen, Frey, Silke, and Hüffmeier, Ulrike

Published
2020
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2. Replication of a distinct psoriatic arthritis risk variant at the IL23R locus

Author

Budu-Aggrey, Ashley, Bowes, John, Loehr, Sabine, Uebe, Steffen, Zervou, Maria I, Helliwell, Philip, Ryan, Anthony W, Kane, David, Korendowych, Eleanor, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, McHugh, Neil, Behrens, Frank, Burkhardt, Harald, Huffmeier, Ulrike, Ho, Pauline, Martin, Javier, Castañeda, Santos, Goulielmos, George, Reis, Andre, and Barton, Anne

Published
2016
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3. PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus

Author

Bowes, John, Loehr, Sabine, Budu-Aggrey, Ashley, Uebe, Steffen, Bruce, Ian N, Feletar, Marie, Marzo-Ortega, Helena, Helliwell, Philip, Ryan, Anthony W, Kane, David, Korendowych, Eleanor, Alenius, Gerd-Marie, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, Brown, Matthew A, Behrens, Frank, Burkhardt, Harald, McHugh, Neil, Huffmeier, Ulrike, Ho, Pauline, Reis, Andre, and Barton, Anne

Published
2015
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4. Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis

Author

Frey, Silke, Sticht, Heinrich, Wilsmann-Theis, Dagmar, Gerschütz, Anne, Wolf, Katharina, Löhr, Sabine, Haskamp, Stefan, Frey, Benjamin, Hahn, Madelaine, Ekici, Arif B., Uebe, Steffen, Thiel, Christian, Reis, André, Burkhardt, Harald, Behrens, Frank, Köhm, Michaela, Rech, Jürgen, Schett, Georg, Assmann, Gunter, Kingo, Külli, Kõks, Sulev, Mössner, Rotraut, Prinz, Jörg C., Oji, Vinzenz, Schulz, Peter, Muñoz, Luis E., Kremer, Andreas E., Wenzel, Jörg, and Hüffmeier, Ulrike

Published
2020
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5. Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

Author

Dand, Nick, Mucha, Soeren, Tsoi, Lam C., Mahil, Satveer K., Stuart, Philip E., Arnold, Andreas, Baurecht, Hansjoerg, David Burden, A., Callis Duffin, Kristina, Chandran, Vinod, Curtis, Charles J., Das, Sayantan, Ellinghaus, David, Ellinghaus, Eva, Enerbäck, Charlotta, Esko, Tonu, Gladman, Dafna D., Griffiths, Christopher E. M., Gudjonsson, Johann E., Hoffman, Per, Homuth, Georg, Hueffmeier, Ulrike, Krueger, Gerald G., Laudes, Matthias, Hyuck Lee, Sang, Lieb, Wolfgang, Lim, Henry W., Loehr, Sabine, Mrowietz, Ulrich, Mueller-Nurayid, Martina, Noethen, Markus, Peters, Annette, Rahman, Proton, Reis, Andre, Reynolds, Nick J., Rodriguez, Elke, Schmidt, Carsten O., Spain, Sarah L., Strauch, Konstantin, Tejasvi, Trilokraj, Voorhees, John J., Warren, Richard B., Weichenthal, Michael, Weidinger, Stephan, Zawistowski, Matthew, Nair, Rajan P., Capon, Francesca, Smith, Catherine H., Trembath, Richard C., Abecasis, Goncalo R., Elder, James T., Franke, Andre, Simpson, Michael A., Barker, Jonathan N., Dand, Nick, Mucha, Soeren, Tsoi, Lam C., Mahil, Satveer K., Stuart, Philip E., Arnold, Andreas, Baurecht, Hansjoerg, David Burden, A., Callis Duffin, Kristina, Chandran, Vinod, Curtis, Charles J., Das, Sayantan, Ellinghaus, David, Ellinghaus, Eva, Enerbäck, Charlotta, Esko, Tonu, Gladman, Dafna D., Griffiths, Christopher E. M., Gudjonsson, Johann E., Hoffman, Per, Homuth, Georg, Hueffmeier, Ulrike, Krueger, Gerald G., Laudes, Matthias, Hyuck Lee, Sang, Lieb, Wolfgang, Lim, Henry W., Loehr, Sabine, Mrowietz, Ulrich, Mueller-Nurayid, Martina, Noethen, Markus, Peters, Annette, Rahman, Proton, Reis, Andre, Reynolds, Nick J., Rodriguez, Elke, Schmidt, Carsten O., Spain, Sarah L., Strauch, Konstantin, Tejasvi, Trilokraj, Voorhees, John J., Warren, Richard B., Weichenthal, Michael, Weidinger, Stephan, Zawistowski, Matthew, Nair, Rajan P., Capon, Francesca, Smith, Catherine H., Trembath, Richard C., Abecasis, Goncalo R., Elder, James T., Franke, Andre, Simpson, Michael A., and Barker, Jonathan N.

Abstract

Psoriasis is a common inflammatory skin disorder for which multiple genetic susceptibility loci have been identified, but few resolved to specific functional variants. In this study, we sought to identify common and rare psoriasis-associated gene-centric variation. Using exome arrays we genotyped four independent cohorts, totalling 11 861 psoriasis cases and 28 610 controls, aggregating the dataset through statistical meta-analysis. Single variant analysis detected a previously unreported risk locus at TNFSF15 (rs6478108; P = 1.50 x 10(-8), OR = 1.10), and association of common protein-altering variants at 11 loci previously implicated in psoriasis susceptibility. We validate previous reports of protective low-frequency protein-altering variants within IFIH1 (encoding an innate antiviral receptor) and TYK2 (encoding a Janus kinase), in each case establishing a further series of protective rare variants (minor allele frequency amp;lt; 0.01) via gene-wide aggregation testing (IFIH1: p(burden) = 2.53 x 10(-7), OR = 0.707; TYK2: p(burden) = 6.17 x 10(-4), OR = 0.744). Both genes play significant roles in type I interferon (IFN) production and signalling. Several of the protective rare and low-frequency variants in IFIH1 and TYK2 disrupt conserved protein domains, highlighting potential mechanisms through which their effect may be exerted., Funding Agencies|Medical Research Council (MRC) Stratified Medicine award [MR/L011808/1]; Psoriasis Association [RG2/10]; MRC Clinical Training Fellowship [MR/L001543/1]; NIHR Biomedical Research Centre based at Guys and St Thomas NHS Foundation Trust; Kings College London; NIHR Biomedical Research Centre at South London; Maudsley NHS Foundation Trust; Maudsley Charity [980]; Guys and St Thomass Charity [STR130505]; MRC grant [G0000934]; Wellcome Trust grant [068545/Z/02]; German Federal Ministry of Education and Research (BMBF) [01ZX1306A]; PopGen Biobank (Kiel, Germany) [01EY1103]; Helmholtz Zentrum Munchen - German Research Center for Environmental Health; BMBF; State of Bavaria; Munich Center of Health Sciences (MC Health); Ludwig-Maximilians-Universitat, of LMUinnovativ; BMBF [01ZZ9603, 01ZZ0103, 01ZZ0403, 03152061A, 03Z1CN22]; Ministry of Cultural Affairs; Social Ministry of the Federal State of Mecklenburg -West Pomerania; network Greifswald Approach to Individualized Medicine (GANI MED); Federal State of Mecklenburg West Pomerania; BMBF Metarthros grant [01EC1407A]; National Institutes of Health [R01AR042742, R01AR050511, R01AR054966, R01AR063611, R01AR065183]; GAIN award from the Foundation for the National Institutes of Health; Ann Arbor Veterans Affairs Hospital; Taubman Medical Research Institute; International Psoriasis Council

Published
2017
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6. Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients

Author

Mössner, Rotraut, Frambach, Yvonne, Wilsmann-Theis, Dagmar, Löhr, Sabine, Jacobi, Arnd, Weyergraf, Ansgar, Müller, Michael, Philipp, Sandra, Renner, Regina, Traupe, Heiko, Burkhardt, Harald, Kingo, Külli, Kõks, Sulev, Uebe, Steffen, Sticherling, Michael, Sticht, Heinrich, Oji, Vinzenz, and Hüffmeier, Ulrike

Published
2015
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7. PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis:evidence for a further PsA-specific risk locus

Author

Bowes, John, Loehr, Sabine, Budu-Aggrey, Ashley, Uebe, Steffen, Bruce, Ian N., Feletar, Marie, Marzo-Ortega, Helena, Helliwell, Philip, Ryan, Anthony W., Kane, David, Korendowych, Eleanor, Alenius, Gerd-Marie, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, Brown, Matthew A., Behrens, Frank, Burkhardt, Harald, McHugh, Neil, Huffmeier, Ulrike, Ho, Pauline, Reis, Andre, Barton, Anne, and Publica

Subjects
Male, Genotype, Arthritis, Psoriatic, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Clinical and Epidemiological Research, urologic and male genital diseases, Polymorphism, Single Nucleotide, Medizinische Fakultät, Genetic Loci, Risk Factors, Case-Control Studies, Humans, Psoriasis, Female, Genetic Predisposition to Disease, ddc:610, Genome-Wide Association Study
Abstract

OBJECTIVES: Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis; it has a higher estimated genetic component than psoriasis alone, however most genetic susceptibility loci identified for PsA to date are also shared with psoriasis. Here we attempt to validate novel single nucleotide polymorphisms selected from our recent PsA Immunochip study and determine specificity to PsA.METHODS: A total of 15 single nucleotide polymorphisms were selected (PImmunochip RESULTS: We found genome-wide significant association to rs2476601, mapping to PTPN22 (p=1.49×10(-9), OR=1.32), but no evidence for association in the psoriasis cohort (p=0.34) and the effect estimates were significantly different between PsA and psoriasis (p=3.2×10(-4)). Additionally, we found genome-wide significant association to the previously reported psoriasis risk loci; NOS2 (rs4795067, p=5.27×10(-9)).CONCLUSIONS: For the first time, we report genome-wide significant association of PTPN22 (rs2476601) to PsA susceptibility, but no evidence for association to psoriasis.

Published
2015
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