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406 results on '"Teupser D"'

1. Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

Author

Milger K, Holdt LM, Teupser D, Huber RM, Behr J, and Kneidinger N

Subjects
Diseases of the respiratory system, RC705-779
Abstract

Katrin Milger,1 Lesca Miriam Holdt,2 Daniel Teupser,2 Rudolf Maria Huber,1 Jürgen Behr,1 Nikolaus Kneidinger1 1Department of Internal Medicine V, University of Munich, Comprehensive Pneumology Center, Member of the German Center for Lung Research, 2Institute of Laboratory Medicine, University of Munich, Munich, Germany Abstract: Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease. Other manifestations, including airway disease or skin disorders, have also been described. A 44-year-old woman presented to our emergency department with dyspnea and respiratory insufficiency. She had never smoked, and had been diagnosed with COPD 9 years earlier. Three months previously, she had suffered a pulmonary embolism. Chest computed tomography scan revealed severe cystic bronchiectasis with destruction of the lung parenchyma. The sweat test was normal and there was no evidence of the cystic fibrosis transmembrane conductance regulator (CFTR) mutation. Capillary zone electrophoresis showed a decrease of alpha-1 globin band and AAT levels were below the quantification limit (

Published
2015

3. Nicht kodierende Ribonukleinsäure im kardiovaskulären System: Sonderforschungsbereich-Transregio (SFB-TRR 267)

Author

Engelhardt, S., Dimmeler, S., Heim, C., Bär, C., Böttger, T., Boon, R., Brandes, R. P., Braun, T., Dueck, A., Gagneur, J., Grote, P., Holdt, L. M., Jaé, N., Krishnan, J., Kupatt, C., Laugwitz, K.-L., Leisegang, M. S., Maegdefessel, L., Meitinger, T., Moretti, A., Müller-McNicoll, M., Sattler, M., Schnieke, A., Schulz, M., Schunkert, H., Schwalbe, H., Teupser, D., Thum, T., Weber, C., Wittig, I., and Zarnack, K.

Published
2022
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4. Gesundheitskompetenz und Impfbereitschaft in der ambulanten und stationären Pflege während der COVID-19-Pandemie

Author

Gschwendner, M, Grass, A, Sanftenberg, L, Rottenkolber, M, Zöllinger, I, Kühlein, T, Gágyor, I, Hausen, A, Janke, C, Hölscher, M, Teupser, D, Gensichen, J, Dreischulte, T, BACOM-Studiengruppe, Fd, Gschwendner, M, Grass, A, Sanftenberg, L, Rottenkolber, M, Zöllinger, I, Kühlein, T, Gágyor, I, Hausen, A, Janke, C, Hölscher, M, Teupser, D, Gensichen, J, Dreischulte, T, and BACOM-Studiengruppe, Fd

Published
2023

5. Erkennung von Medikationsrisiken bei Pflegebedürftigen: ein Vergleich von sechs Instrumenten

Author

Hennigs, P, Sanftenberg, L, Zöllinger, I, Sebastião, M, Kühlein, T, Hindenburg, D, Gágyor, I, Wildgruber, D, Hausen, A, Janke, C, Hölscher, M, Teupser, D, Gensichen, J, Dreischulte, T, BACOM-Studiengruppe, Fd, Hennigs, P, Sanftenberg, L, Zöllinger, I, Sebastião, M, Kühlein, T, Hindenburg, D, Gágyor, I, Wildgruber, D, Hausen, A, Janke, C, Hölscher, M, Teupser, D, Gensichen, J, Dreischulte, T, and BACOM-Studiengruppe, Fd

Published
2023

7. Nicht kodierende Ribonukleinsäure im kardiovaskulären System:Sonderforschungsbereich-Transregio (SFB-TRR 267)

Author

Engelhardt, S., Dimmeler, S., Heim, C., Bär, C., Böttger, T., Boon, R., Brandes, R. P., Braun, T., Dueck, A., Gagneur, J., Grote, P., Holdt, L. M., Jaé, N., Krishnan, J., Kupatt, C., Laugwitz, K. L., Leisegang, M. S., Maegdefessel, L., Meitinger, T., Moretti, A., Müller-McNicoll, M., Sattler, M., Schnieke, A., Schulz, M., Schunkert, H., Schwalbe, H., Teupser, D., Thum, T., Weber, C., Wittig, I., and Zarnack, K.

Abstract

The discovery of regulatory noncoding RNA molecules (ncRNA) revolutionized our previous understanding of gene expression. As shown by extensive sequencing projects from earlier times, ncRNA occurs in the human transcriptome in a previously unforeseen number and diversity, whereas mRNA coding for proteins only makes up a small proportion of the human transcriptome. In addition to structurally important ncRNA, tens of thousands of regulatory ncRNAs were identified in humans, of which microRNAs, long noncoding RNAs and the recently discovered circular RNAs are important groups. Members of this joint project have already contributed essential knowledge on the role, the mechanisms and the target structures of ncRNAs in the cardiovascular (CV) system. Furthermore, they have shown the feasibility of treatment based on the manipulation of ncRNA in cardiovascular diseases. Although a fascinating new field of research has opened up with ncRNAs, the enormous number of RNA transcripts, their different mechanisms of action and the complex methods necessary for their investigation represent major challenges. The tasks are now 1) to determine those ncRNAs which are essential for the development and homeostasis as well as the development and progression of diseases in the cardiovascular system and 2) to mechanistically understand their mode of functioning, with the aim to derive target structures and their manipulation to develop urgently needed new therapies.

Published
2022

8. 'Die Ärztinnen, die herkommen, ... da ist schon eine Vertrauensbasis da' - das subjektive Erleben der COVID-19-Pandemie von Pflegeheimbewohnenden: eine qualitative Studie

Author

Hörger, A, Sanftenberg, L, Mayr, K, Nassehi, A, Zöllinger, I, Kosub, H, Hausen, A, Janke, C, Hölscher, M, Gágyor, I, Kühlein, T, Teupser, D, Dreischulte, T, Gensichen, JS, Hörger, A, Sanftenberg, L, Mayr, K, Nassehi, A, Zöllinger, I, Kosub, H, Hausen, A, Janke, C, Hölscher, M, Gágyor, I, Kühlein, T, Teupser, D, Dreischulte, T, and Gensichen, JS

Published
2022

9. Bayerischer ambulanter Covid-19 Monitor (BaCoM): Eine Registerstudie

Author

Zöllinger, I, Sanftenberg, L, Kosub, H, Seydel, E, Lindemann, D, Hausen, A, Mayr, K, Nassehi, A, Janke, C, Hölscher, M, Gágyor, I, Hueber, S, Kühlein, T, Teupser, D, Rottenkolber, M, Dreischulte, T, Gensichen, J, Zöllinger, I, Sanftenberg, L, Kosub, H, Seydel, E, Lindemann, D, Hausen, A, Mayr, K, Nassehi, A, Janke, C, Hölscher, M, Gágyor, I, Hueber, S, Kühlein, T, Teupser, D, Rottenkolber, M, Dreischulte, T, and Gensichen, J

Published
2022

10. Bayerischer ambulanter Covid-19-Monitor (BaCoM): eine Registerstudie

Author

Zöllinger, I, Sanftenberg, L, Kosub, H, Seydel, E, Lindemann, D, Hausen, A, Mayr, K, Nassehi, A, Janke, C, Hoelscher, M, Gagyor, I, Hueber, S, Kühlein, T, Teupser, D, Rottenkolber, M, Dreischulte, T, Gensichen, J, and BACOM Studienteam

Subjects
ddc: 610, Medicine and health
Abstract

Hintergrund: Pflegebedürftige Menschen sind gemeinsam mit ihren Angehörigen, den Pflegekräften und betreuenden Hausärzt*innen stark von der Covid-19-Pandemie betroffen. Das Bayerische Staatsministerium für Gesundheit und Pflege hat BACOM zur Verbesserung der Lebenssituation [zum vollständigen Text gelangen Sie über die oben angegebene URL]

Published
2021
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22. Nat Commun

Author

Franceschini, N., GIAMBARTOLOMEI, C., DE VRIES, P. S., FINAN, C., BIS, J. C., HUNTLEY, R. P., LOVERING, R. C., TAJUDDIN, S. M., WINKLER, T. W., GRAFF, M., KAVOUSI, M., Dale, C., SMITH, A. V., Hofer, E., VAN LEEUWEN, E. M., Nolte, I. M., Lu, L., Scholz, M., Sargurupremraj, Muralidharan, PITKANEN, N., FRANZEN, O., Joshi, P. K., NOORDAM, R., MARIONI, R. E., Hwang, S. J., MUSANI, S. K., SCHMINKE, U., PALMAS, W., ISAACS, A., CORREA, A., ZONDERMAN, A. B., Hofman, A., TEUMER, A., COX, A. J., UITTERLINDEN, A. G., Wong, A., SMIT, A. J., NEWMAN, A. B., Britton, A., RUUSALEPP, A., Sennblad, B., HEDBLAD, B., PASANIUC, B., PENNINX, B. W., LANGEFELD, C. D., WASSEL, C. L., Tzourio, Christophe, Fava, C., BALDASSARRE, D., O'LEARY, D. H., TEUPSER, D., Kuh, D., TREMOLI, E., MANNARINO, E., Grossi, E., BOERWINKLE, E., SCHADT, E. E., INGELSSON, E., VEGLIA, F., Rivadeneira, F., BEUTNER, F., Chauhan, Ganesh, Heiss, G., SNIEDER, H., Campbell, H., VOLZKE, H., MARKUS, H. S., DEARY, I. J., JUKEMA, J. W., de Graaf, J., Price, J., POTT, J., HOPEWELL, J. C., Liang, J., Thiery, J., Engmann, J., GERTOW, K., Rice, K., TAYLOR, K. D., DHANA, K., KIEMENEY, Lalm, LIND, L., RAFFIELD, L. M., LAUNER, L. J., HOLDT, L. M., DORR, M., DICHGANS, M., TRAYLOR, M., SITZER, M., KUMARI, M., Kivimaki, M., Nalls, M. A., MELANDER, O., RAITAKARI, O., FRANCO, O. H., RUEDA-OCHOA, O. L., ROUSSOS, P., WHINCUP, P. H., Amouyel, P., Giral, P., ANUGU, P., WONG, Q., Malik, R., RAURAMAA, R., BURKHARDT, R., Hardy, R., Schmidt, R., DE MUTSERT, R., MORRIS, R. W., STRAWBRIDGE, R. J., WANNAMETHEE, S. G., HAGG, S., Shah, S., MCLACHLAN, S., TROMPET, S., SESHADRI, S., KURL, S., HECKBERT, S. R., Ring, S., HARRIS, T. B., LEHTIMAKI, T., GALESLOOT, T. E., Shah, T., DE FAIRE, U., Plagnol, V., ROSAMOND, W. D., Post, W., Zhu, X., Zhang, X., Guo, X., SABA, Y., DEHGHAN, A., SELDENRIJK, A., MORRISON, A. C., HAMSTEN, A., PSATY, B. M., VAN DUIJN, C. M., LAWLOR, D. A., MOOK-KANAMORI, D. O., BOWDEN, D. W., Schmidt, H., WILSON, J. F., ROTTER, J. I., WARDLAW, J. M., DEANFIELD, J., HALCOX, J., LYYTIKAINEN, L. P., Loeffler, M., EVANS, M. K., Debette, Stéphanie, HUMPHRIES, S. E., VOLKER, U., GUDNASON, V., HINGORANI, A. D., BJORKEGREN, J. L. M., CASAS, J. P., O'DONNELL, C. J., Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
VINTAGE, cardiovascular system, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, cardiovascular diseases, HEALTHY
Abstract

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

Published
2018

23. GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Author

Franceschini, N, Giambartolomei, C, de Vries, PS, Finan, C, Bis, JC, Huntley, RP, Lovering, RC, Tajuddin, SM, Winkler, TW, Graff, M, Kavousi, M, Dale, C, Smith, AV, Hofer, E, van Leeuwen, EM, Nolte, IM, Lu, L, Scholz, M, Sargurupremraj, M, Pitkänen, N, Franzén, O, Joshi, PK, Noordam, R, Marioni, RE, Hwang, SJ, Musani, SK, Schminke, U, Palmas, W, Isaacs, A, Correa, A, Zonderman, AB, Hofman, A, Teumer, A, Cox, AJ, Uitterlinden, AG, Wong, A, Smit, AJ, Newman, AB, Britton, A, Ruusalepp, A, Sennblad, B, Hedblad, B, Pasaniuc, B, Penninx, BW, Langefeld, CD, Wassel, CL, Tzourio, C, Fava, C, Baldassarre, D, O’Leary, DH, Teupser, D, Kuh, D, Tremoli, E, Mannarino, E, Grossi, E, Boerwinkle, E, Schadt, EE, Ingelsson, E, Veglia, F, Rivadeneira, F, Beutner, F, Chauhan, G, Heiss, G, Snieder, H, Campbell, H, Völzke, H, Markus, HS, Deary, IJ, Jukema, JW, de Graaf, J, Price, J, Pott, J, Hopewell, JC, Liang, J, Thiery, J, Engmann, J, Gertow, K, Rice, K, Taylor, KD, Dhana, K, Kiemeney, LALM, Lind, L, Raffield, LM, Launer, LJ, Holdt, LM, Dörr, M, Dichgans, M, Traylor, M, Sitzer, M, Kumari, M, Kivimaki, M, Nalls, MA, Melander, O, Raitakari, O, Franco, OH, Rueda-Ochoa, OL, Roussos, P, Whincup, PH, Amouyel, P, and Giral, P

Subjects
Aging, MEGASTROKE Consortium, Quantitative Trait Loci, ADAMTS9 Protein, Coronary Disease, Cardiovascular, Polymorphism, Single Nucleotide, Carotid Intima-Media Thickness, Protein-Lysine 6-Oxidase, Risk Factors, Genetics, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Aetiology, Polymorphism, Heart Disease - Coronary Heart Disease, Plaque, Atherosclerotic, Human Genome, Single Nucleotide, Atherosclerosis, Plaque, Atherosclerotic, Brain Disorders, Stroke, Heart Disease, cardiovascular system, Amino Acid Oxidoreductases, Lod Score, Genome-Wide Association Study
Abstract

© 2018, The Author(s). Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

Published
2018

26. GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Author

Franceschini, N. (Nora), Giambartolomei, C. (Claudia), Vries, P.S. (Paul) de, Finan, C. (Chris), Bis, J.C. (Joshua), Huntley, R.P. (Rachael P.), Lovering, R.C. (Ruth C.), Tajuddin, S.M. (Salman M.), Winkler, T.W. (Thomas W.), Graff, M. (Misa), Kavousi, M. (Maryam), Dale, C. (Caroline), Smith, A.V. (Albert), Hofer, E. (Edith), Leeuwen, E.M. (Elisa) van, Nolte, I.M. (Ilja), Lu, L. (Lingyi), Scholz, M. (Markus), Sargurupremraj, M. (Muralidharan), Pitkanen, N. (Niina), Franzén, O. (Oscar), Joshi, P.K. (Peter), Noordam, R. (Raymond), Marioni, R.E. (Riccardo), Hwang, S.-J. (Shih-Jen), Musani, S.K. (Solomon K.), Schminke, U. (Ulf), Palmas, W. (Walter), Isaacs, A.J. (Aaron), Correa, D.D., Zonderman, A.B., Hofman, A. (Albert), Teumer, A. (Alexander), Cox, A.J. (Amanda J.), Uitterlinden, A.G. (André), Wong, A. (Andrew), Smit, A.J. (Andries), Newman, A.B. (Anne B.), Britton, A.R., Ruusalepp, A. (Arno), Sennblad, B. (Bengt), Hedblad, B. (Bo), Pasaniuc, B. (Bogdan), Penninx, B.W.J.H. (Brenda), Langefeld, C.D. (Carl D.), Wassel, C.L. (Christina), Tzourio, C. (Christophe), Fava, C. (Cristiano), Baldassarre, D. (Damiano), O’Leary, D.H. (Daniel H.), Teupser, D. (Daniel), Kuh, D. (Diana), Tremoli, E. (Elena), Mannarino, E. (Elmo), Grossi, E. (Enzo), Boerwinkle, E.A. (Eric), Schadt, E.E. (Eric E.), Ingelsson, E. (Erik), Veglia, F. (Fabrizio), Rivadeneira Ramirez, F. (Fernando), Beutner, F. (Frank), Chauhan, G. (Ganesh), Heiss, G. (Gerardo), Snieder, H. (Harold), Campbell, H. (Harry), Völzke, H. (Henry), Markus, H.S. (Hugh), Deary, I.J. (Ian), Jukema, J.W. (Jan Wouter), Graaf, J. (Jacqueline) de, Price, J. (Jacqueline), Pott, J. (Janne), Hopewell, J., Liang, J. (Jingjing), Thiery, J.P. (Joachim), Engmann, J. (Jorgen), Gertow, K. (Karl), Rice, K.M. (Kenneth), Taylor, K.D. (Kent), Dhana, K. (Klodian), Kiemeney, L.A.L.M. (Lambertus A. L. M.), Kao, W.H.L. (Wen), Raffield, L.M. (Laura M.), Launer, L.J. (Lenore), Holdt, L.M. (Lesca), Dörr, M. (Marcus), Kubisch, C. (Christian), Traylor, M. (Matthew), Sitzer, M. (Matthias), Kumari, M. (Meena), Kivimaki, M. (Mika), Nalls, M.A. (Michael), Melander, O. (Olle), Raitakari, O. (Olli), Franco, O.H. (Oscar), Rueda-Ochoa, O.L. (Oscar), Roussos, A. (Alexandra), Whincup, P.H. (Peter), Amouyel, P. (Philippe), Giral, P. (Philippe), Anugu, P. (Pramod), Wong, Q. (Quenna), Malik, R. (Rainer), Rauramaa, R. (Rainer), Burkhardt, R. (Ralph), Hardy, R. (Rebecca), Schmidt, R. (Reinhold), Mutsert, R. (Reneé) de, Strawbridge, R.J. (Rona), Wannamethee, S.G. (Goya), Hägg, S. (Sara), Shah, S. (Sonia), McLachlan, S. (Stela), Trompet, S. (Stella), Seshadri, S. (Sudha), Kurl, S. (Sudhir), Heckbert, S.R. (Susan), Ring, S.M. (Susan), Harris, T.B. (Tamara B.), Lehtimäki, T. (Terho), Galesloot, T.E. (Tessel), Shah, T. (Tina), Faire, U. (Ulf) de, Plagnol, V. (Vincent), Rosamond, W.D. (Wayne), Post, W.S. (Wendy S.), Zhu, X. (Xiaofeng), Zhang, X. (Xiaoling), Guo, X. (Xiuqing), Saba, Y. (Yasaman), Okada, Y. (Yukinori), Mishra, A. (Aniket), Rutten-Jacobs, L. (Loes), Giese, A.-K. (Anne-Katrin), van der Laan, S.W. (Sander W.), Gretarsdottir, S. (Solveig), Anderson, C.D. (Christopher D.), Chong, M. (Michael), Adams, H.H.H. (Hieab), Ago, T. (Tetsuro), Almgren, P. (Peter), Ay, H. (Hakan), Bartz, T.M. (Traci M.), Benavente, O.R. (Oscar R.), Bevan, S. (Steve), Boncoraglio, G. (Giorgio Battista), Brown, R.D. (Robert D.), Butterworth, A.S. (Adam S.), Carrera, C. (Caty), Carty, C.L. (Cara L.), Chasman, D.I. (Daniel), Chen, W-M., Cole, J.W. (John W.), Cotlarciuc, I. (Ioana), Cruchaga, C. (Carlos), Danesh, J. (John), Bakker, P.I.W. (Paul) de, DeStefano, A.L. (Anita), Hoed, M. (Marcel) den, Duan, Q. (Qing), Engelter, S.T. (Stefan), Falcone, G.J. (Guido J.), Gottesman, R.F. (Rebecca), Grewal, R.P. (Raji P.), Gustafsson, S. (Stefan), Haessler, J. (Jeff), Harris, T.B. (Tamara), Hassan, A. (Ahamad), Havulinna, A.S. (Aki), Holliday, E.G. (Elizabeth), Howard, G. (George), Hsu, F.-C. (Fang-Chi), Hyacinth, H.I. (Hyacinth I.), Ikram, M.A. (Arfan), Irvin, M.R. (Marguerite R.), Jian, X. (Xueqiu), Jimenez-Conde, J. (Jordi), Johnson, J.A. (Julie A.), Jukema, J.W. (J. Wouter), Kanai, M. (Masahiro), Keene, K.L. (Keith), Kissela, B.M. (Brett M.), Kleindorfer, D.O. (Dawn O.), Kooperberg, C. (Charles), Kubo, M. (Michiaki), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Lee, J.-M. (Jin-Moo), Lemmens, R. (Robin), Leys, D. (Didier), Lewis, C.M. (Cathryn), Lin, W.-Y. (Wei-Yu), Lindgren, A.G. (Arne G.), Lorentzen, E. (Erik), Magnusson, P.K. (Patrik), Maguire, J.M. (Jane), Manichaikul, A. (Ani), McArdle, P.F. (Patrick), Meschia, J.F. (James F.), Mosley, T.H. (Thomas H.), Ninomiya, T. (Toshiharu), O’Donnell, M.J. (Martin J.), Pulit, S.L. (Sara), Rannikmäe, K. (Kristiina), Reiner, A.P. (Alexander P.), Rexrode, K. (Kathryn), Rich, S.S. (Stephen), Ridker, P.M. (Paul), Rost, N.S. (Natalia), Rothwell, P.M. (Peter), Rundek, T. (Tatjana), Muir, K.W. (Keith), Sakaue, S. (Saori), Sale, M.M. (Michele M.), Salomaa, V. (Veikko), Sapkota, B.R. (Bishwa R.), Schmidt, C.O. (Carsten O.), Sharma, P. (Pankaj), Slowik, A. (Agnieszka), Sudlow, C. (Cathie), Tanislav, C. (Christian), Tatlisumak, T. (Turgut), Thijs, V. (Vincent), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Tiedt, S. (Steffen), Walters, M. (Matthew), Wareham, N.J. (Nick), Wassertheil-Smoller, S. (Sylvia), Wiggins, K.L. (Kerri), Yang, Q. (Qiong Fang), Yusuf, S. (Salim), Pastinen, T. (Tomi), Schadt, E.E. (Eric), Koplev, S. (Simon), Codoni, V. (Veronica), Civelek, M. (Mete), Smith, N.L. (Nicholas), Tregouet, D.-A. (David-Alexandre), Christophersen, I.E. (Ingrid E.), Roselli, C. (Carolina), Lubitz, S.A. (Steven A.), Ellinor, P.T. (Patrick), Tai, E.S. (E. Shyong), Kooner, J.S. (Jaspal S.), Kato, N. (Norihiro), He, J. (Jiang), Harst, P. (Pim) van der, Elliott, P. (Paul), Chambers, J.C. (John C.), Takeuchi, F. (Fumihiko), Johnson, A.D. (Andrew), Sanghera, D.K. (Dharambir K.), Jern, C. (Christina), Strbian, D. (Daniel), Fernandez-Cadenas, I. (Israel), Longstreth Jr, W.T., Rolfs, A. (Arndt), Hata, J. (Jun), Woo, D. (Daniel), Rosand, J. (Jonathan), Pare, G. (Guillame), Saleheen, D. (Danish), Zwart, J-A. (John-Anker), Worrall, B.B. (Bradford B.), Kittner, T. (Thomas), Howson, J.M.M. (Joanna M. M.), Kamatani, Y. (Yoichiro), Dehghan, A. (Abbas), Seldenrijk, K.A. (Kees), Morrison, A.C. (Alanna), Hamsten, A. (Anders), Psaty, B.M. (Bruce), Duijn, C.M. (Cornelia) van, Lawlor, D.A. (Debbie), Mook-Kanamori, D.O. (Dennis O.), Bowden, D.W. (Donald), Schmidt, H. (Helena), Wilson, J.F. (James F.), Wilson, J.F. (James), Rotter, J.I. (Jerome I.), Wardlaw, J.M. (J.), Deanfield, J. (John), Halcox, J. (Julian), Lyytikäinen, L.-P. (Leo-Pekka), Loeffler, M. (Markus), Evans, M.K. (Michele), Debette, S. (Stéphanie), Humphries, S.E. (Steve), Völker, U. (Uwe), Gudnason, V. (Vilmundur), Hingorani, A. (Aroon), Björkegren, J.L.M. (Johan L.M.), Casas, J.P. (Juan), Ódonnell, C.J. (Christopher), Morris, R.W. (Richard), Franceschini, N. (Nora), Giambartolomei, C. (Claudia), Vries, P.S. (Paul) de, Finan, C. (Chris), Bis, J.C. (Joshua), Huntley, R.P. (Rachael P.), Lovering, R.C. (Ruth C.), Tajuddin, S.M. (Salman M.), Winkler, T.W. (Thomas W.), Graff, M. (Misa), Kavousi, M. (Maryam), Dale, C. (Caroline), Smith, A.V. (Albert), Hofer, E. (Edith), Leeuwen, E.M. (Elisa) van, Nolte, I.M. (Ilja), Lu, L. (Lingyi), Scholz, M. (Markus), Sargurupremraj, M. (Muralidharan), Pitkanen, N. (Niina), Franzén, O. (Oscar), Joshi, P.K. (Peter), Noordam, R. (Raymond), Marioni, R.E. (Riccardo), Hwang, S.-J. (Shih-Jen), Musani, S.K. (Solomon K.), Schminke, U. (Ulf), Palmas, W. (Walter), Isaacs, A.J. (Aaron), Correa, D.D., Zonderman, A.B., Hofman, A. (Albert), Teumer, A. (Alexander), Cox, A.J. (Amanda J.), Uitterlinden, A.G. (André), Wong, A. (Andrew), Smit, A.J. (Andries), Newman, A.B. (Anne B.), Britton, A.R., Ruusalepp, A. (Arno), Sennblad, B. (Bengt), Hedblad, B. (Bo), Pasaniuc, B. (Bogdan), Penninx, B.W.J.H. (Brenda), Langefeld, C.D. (Carl D.), Wassel, C.L. (Christina), Tzourio, C. (Christophe), Fava, C. (Cristiano), Baldassarre, D. (Damiano), O’Leary, D.H. (Daniel H.), Teupser, D. (Daniel), Kuh, D. (Diana), Tremoli, E. (Elena), Mannarino, E. (Elmo), Grossi, E. (Enzo), Boerwinkle, E.A. (Eric), Schadt, E.E. (Eric E.), Ingelsson, E. (Erik), Veglia, F. (Fabrizio), Rivadeneira Ramirez, F. (Fernando), Beutner, F. (Frank), Chauhan, G. (Ganesh), Heiss, G. (Gerardo), Snieder, H. (Harold), Campbell, H. (Harry), Völzke, H. (Henry), Markus, H.S. (Hugh), Deary, I.J. (Ian), Jukema, J.W. (Jan Wouter), Graaf, J. (Jacqueline) de, Price, J. (Jacqueline), Pott, J. (Janne), Hopewell, J., Liang, J. (Jingjing), Thiery, J.P. (Joachim), Engmann, J. (Jorgen), Gertow, K. (Karl), Rice, K.M. (Kenneth), Taylor, K.D. (Kent), Dhana, K. (Klodian), Kiemeney, L.A.L.M. (Lambertus A. L. M.), Kao, W.H.L. (Wen), Raffield, L.M. (Laura M.), Launer, L.J. (Lenore), Holdt, L.M. (Lesca), Dörr, M. (Marcus), Kubisch, C. (Christian), Traylor, M. (Matthew), Sitzer, M. (Matthias), Kumari, M. (Meena), Kivimaki, M. (Mika), Nalls, M.A. (Michael), Melander, O. (Olle), Raitakari, O. (Olli), Franco, O.H. (Oscar), Rueda-Ochoa, O.L. (Oscar), Roussos, A. (Alexandra), Whincup, P.H. (Peter), Amouyel, P. (Philippe), Giral, P. (Philippe), Anugu, P. (Pramod), Wong, Q. (Quenna), Malik, R. (Rainer), Rauramaa, R. (Rainer), Burkhardt, R. (Ralph), Hardy, R. (Rebecca), Schmidt, R. (Reinhold), Mutsert, R. (Reneé) de, Strawbridge, R.J. (Rona), Wannamethee, S.G. (Goya), Hägg, S. (Sara), Shah, S. (Sonia), McLachlan, S. (Stela), Trompet, S. (Stella), Seshadri, S. (Sudha), Kurl, S. (Sudhir), Heckbert, S.R. (Susan), Ring, S.M. (Susan), Harris, T.B. (Tamara B.), Lehtimäki, T. (Terho), Galesloot, T.E. (Tessel), Shah, T. (Tina), Faire, U. (Ulf) de, Plagnol, V. (Vincent), Rosamond, W.D. (Wayne), Post, W.S. (Wendy S.), Zhu, X. (Xiaofeng), Zhang, X. (Xiaoling), Guo, X. (Xiuqing), Saba, Y. (Yasaman), Okada, Y. (Yukinori), Mishra, A. (Aniket), Rutten-Jacobs, L. (Loes), Giese, A.-K. (Anne-Katrin), van der Laan, S.W. (Sander W.), Gretarsdottir, S. (Solveig), Anderson, C.D. (Christopher D.), Chong, M. (Michael), Adams, H.H.H. (Hieab), Ago, T. (Tetsuro), Almgren, P. (Peter), Ay, H. (Hakan), Bartz, T.M. (Traci M.), Benavente, O.R. (Oscar R.), Bevan, S. (Steve), Boncoraglio, G. (Giorgio Battista), Brown, R.D. (Robert D.), Butterworth, A.S. (Adam S.), Carrera, C. (Caty), Carty, C.L. (Cara L.), Chasman, D.I. (Daniel), Chen, W-M., Cole, J.W. (John W.), Cotlarciuc, I. (Ioana), Cruchaga, C. (Carlos), Danesh, J. (John), Bakker, P.I.W. (Paul) de, DeStefano, A.L. (Anita), Hoed, M. (Marcel) den, Duan, Q. (Qing), Engelter, S.T. (Stefan), Falcone, G.J. (Guido J.), Gottesman, R.F. (Rebecca), Grewal, R.P. (Raji P.), Gustafsson, S. (Stefan), Haessler, J. (Jeff), Harris, T.B. (Tamara), Hassan, A. (Ahamad), Havulinna, A.S. (Aki), Holliday, E.G. (Elizabeth), Howard, G. (George), Hsu, F.-C. (Fang-Chi), Hyacinth, H.I. (Hyacinth I.), Ikram, M.A. (Arfan), Irvin, M.R. (Marguerite R.), Jian, X. (Xueqiu), Jimenez-Conde, J. (Jordi), Johnson, J.A. (Julie A.), Jukema, J.W. (J. Wouter), Kanai, M. (Masahiro), Keene, K.L. (Keith), Kissela, B.M. (Brett M.), Kleindorfer, D.O. (Dawn O.), Kooperberg, C. (Charles), Kubo, M. (Michiaki), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Lee, J.-M. (Jin-Moo), Lemmens, R. (Robin), Leys, D. (Didier), Lewis, C.M. (Cathryn), Lin, W.-Y. (Wei-Yu), Lindgren, A.G. (Arne G.), Lorentzen, E. (Erik), Magnusson, P.K. (Patrik), Maguire, J.M. (Jane), Manichaikul, A. (Ani), McArdle, P.F. (Patrick), Meschia, J.F. (James F.), Mosley, T.H. (Thomas H.), Ninomiya, T. (Toshiharu), O’Donnell, M.J. (Martin J.), Pulit, S.L. (Sara), Rannikmäe, K. (Kristiina), Reiner, A.P. (Alexander P.), Rexrode, K. (Kathryn), Rich, S.S. (Stephen), Ridker, P.M. (Paul), Rost, N.S. (Natalia), Rothwell, P.M. (Peter), Rundek, T. (Tatjana), Muir, K.W. (Keith), Sakaue, S. (Saori), Sale, M.M. (Michele M.), Salomaa, V. (Veikko), Sapkota, B.R. (Bishwa R.), Schmidt, C.O. (Carsten O.), Sharma, P. (Pankaj), Slowik, A. (Agnieszka), Sudlow, C. (Cathie), Tanislav, C. (Christian), Tatlisumak, T. (Turgut), Thijs, V. (Vincent), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Tiedt, S. (Steffen), Walters, M. (Matthew), Wareham, N.J. (Nick), Wassertheil-Smoller, S. (Sylvia), Wiggins, K.L. (Kerri), Yang, Q. (Qiong Fang), Yusuf, S. (Salim), Pastinen, T. (Tomi), Schadt, E.E. (Eric), Koplev, S. (Simon), Codoni, V. (Veronica), Civelek, M. (Mete), Smith, N.L. (Nicholas), Tregouet, D.-A. (David-Alexandre), Christophersen, I.E. (Ingrid E.), Roselli, C. (Carolina), Lubitz, S.A. (Steven A.), Ellinor, P.T. (Patrick), Tai, E.S. (E. Shyong), Kooner, J.S. (Jaspal S.), Kato, N. (Norihiro), He, J. (Jiang), Harst, P. (Pim) van der, Elliott, P. (Paul), Chambers, J.C. (John C.), Takeuchi, F. (Fumihiko), Johnson, A.D. (Andrew), Sanghera, D.K. (Dharambir K.), Jern, C. (Christina), Strbian, D. (Daniel), Fernandez-Cadenas, I. (Israel), Longstreth Jr, W.T., Rolfs, A. (Arndt), Hata, J. (Jun), Woo, D. (Daniel), Rosand, J. (Jonathan), Pare, G. (Guillame), Saleheen, D. (Danish), Zwart, J-A. (John-Anker), Worrall, B.B. (Bradford B.), Kittner, T. (Thomas), Howson, J.M.M. (Joanna M. M.), Kamatani, Y. (Yoichiro), Dehghan, A. (Abbas), Seldenrijk, K.A. (Kees), Morrison, A.C. (Alanna), Hamsten, A. (Anders), Psaty, B.M. (Bruce), Duijn, C.M. (Cornelia) van, Lawlor, D.A. (Debbie), Mook-Kanamori, D.O. (Dennis O.), Bowden, D.W. (Donald), Schmidt, H. (Helena), Wilson, J.F. (James F.), Wilson, J.F. (James), Rotter, J.I. (Jerome I.), Wardlaw, J.M. (J.), Deanfield, J. (John), Halcox, J. (Julian), Lyytikäinen, L.-P. (Leo-Pekka), Loeffler, M. (Markus), Evans, M.K. (Michele), Debette, S. (Stéphanie), Humphries, S.E. (Steve), Völker, U. (Uwe), Gudnason, V. (Vilmundur), Hingorani, A. (Aroon), Björkegren, J.L.M. (Johan L.M.), Casas, J.P. (Juan), Ódonnell, C.J. (Christopher), and Morris, R.W. (Richard)

Abstract

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

Published
2018
Full Text
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28. Identification of Differentially Regulated Pathways in Cardiac Development and Cardiac Gene Expression during In Vitro Cardiac Differentiation of HLHS-derived Human Induced Pluripotent Stem Cells using Transcriptome Analysis

Author

Dreßen, M., additional, Northoff, B., additional, Laue, S., additional, Neb, I., additional, Zhang, Z., additional, Gödel, A., additional, Doppler, S., additional, Deutsch, M., additional, Lahm, H., additional, Teupser, D., additional, Moretti, A., additional, Laugwitz, K.-L., additional, Holdt, L., additional, Lange, R., additional, and Krane, M., additional

Published
2018
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29. A randomised trial on platelet function-guided de-escalation of antiplatelet treatment in ACS patients undergoing PCI

Author

Sibbing, D., Aradi, D., Jacobshagen, C., Gross, L., Trenk, D., Geisler, T., Orban, M., Gori, T., Hadamitzky, M., Merkely, B., Kiss, R. G., Komócsi, A., Dézsi, C. A., Thalmeier, A., Löw, A., Holdt, L., Teupser, D., Ince, H., Felix, S. B., Parma, R., Malek, L., Horstkotte, J., Baylacher, M., Schwinger, R., Rieber, J., Mudra, H., Hausleiter, J., Huber, K., Neumann, F.-J., Koltowski, L., Huczek, Z., Mehilli, J., and Massberg, S.

Subjects
Acute coronary syndrome, platelets, antiplatelet drugs, cardiovascular diseases
Abstract

Outcomes of acute coronary syndrome (ACS) patients undergoing percutaneous coronary intervention (PCI) have been significantly improved with the use of potent P2Y12 receptor inhibitors like prasugrel. While most of the ischaemic risk reduction for prasugrel versus clopidogrel was demonstrated in the early treatment period, the risk of bleeding became particularly prominent during the chronic course of therapy. It may therefore be a valid approach to substitute prasugrel for clopidogrel in the early phase of chronic antiplatelet treatment after PCI. In the Testing Responsiveness To Platelet Inhibition On Chronic Antiplatelet Treatment For Acute Coronary Syndromes (TROPICAL-ACS) trial, we aim to compare standard prasugrel therapy with a de-escalating antiplatelet treatment approach guided by platelet function testing (PFT). The study is an investigator-initiated European multicentre, randomised clinical trial in biomarker-positive ACS patients after successful PCI. Two thousand six hundred patients will be randomised prior to hospital discharge in a 1:1 fashion to either receive standard prasugrel therapy (control group) or de-escalating therapy (one-week prasugrel followed by one-week clopidogrel and PFT-guided maintenance therapy from day 14 after hospital discharge, monitoring group). Patients of the monitoring group with high on-clopidogrel platelet reactivity (HPR) based on Multiplate analyzer testing (HPR: 46U per consensus definition) will be switched back to prasugrel, whereas those without HPR (

Published
2016

32. Association of peripheral-blood transcriptome with prognostic markers of myocardial damage assessed by cardiovascular magnetic resonance after reperfused ST-elevation myocardial infarction

Author

Teren, A., Eitel, I., Beutner, F., Kirsten, H., Scholz, M., Teupser, D., Gutberlet, M., Thiery, J., Schuler, G., Thiele, H., and Publica

Abstract

Purpose: Aim of the present study was to identify associations of global gene expression in peripheral blood mononuclear cells (PBMC) with established cardiovascular magnetic resonance (CMR) markers of myocardial damage and prognosis after ST-elevation myocardial infarction (STEMI). Methods: We enrolled 100 patients with STEMI (70.0% men, age 60.8±11.9 years) after primary angioplasty within 12h after symptom-onset [median pain-toballoon time 237 min (IQR 150-376)]. After reperfusion [median time interval 19.5 hrs (IQR 15-25)] whole blood was collected to perform high throughput transcriptome analysis in isolated PBMC using Illumina HumanHT-12 v4 Expression BeadChips. Subsequently, T2-weighted, SSFP-CINE, and contrast-enhanced CMR was performed within one week after infarction to assess the left ventricle ejection fraction (MR-EF), the myocardial salvage index (MSI), and to visualize late microvascular obstruction in relation to the infarct size (late MO/IS). Results: After pre-processing accounting for relevant confounders, expression levels of 9949 genes were analysed. Among these, expression of one gene involved in the regulation of protein stability correlated strongest with MR-EF [pvalue = 1.7x10-5; false discovery rate (FDR)

Published
2014

34. DNA methylation of lipid-related genes affects blood lipid levels

Author

Pfeiffer, L., Wahl, S., Pilling, L. C., Reischl, E., Sandling, J. K., Kunze, S., Holdt, L. M., Kretschmer, A., Schramm, K., Adamski, J., Klopp, N., Illig, T., Hedman, A. K., Roden, M., Hernandez, D. G., Singleton, A. B., Thasler, W. E., Grallert, H., Gieger, C., Herder, C., Teupser, D., Meisinger, C., Spector, T. D., Kronenberg, F., Prokisch, H., Melzer, D., Peters, A., Deloukas, P., Ferrucci, L., Waldenberger, M., Pfeiffer, L., Wahl, S., Pilling, L. C., Reischl, E., Sandling, J. K., Kunze, S., Holdt, L. M., Kretschmer, A., Schramm, K., Adamski, J., Klopp, N., Illig, T., Hedman, A. K., Roden, M., Hernandez, D. G., Singleton, A. B., Thasler, W. E., Grallert, H., Gieger, C., Herder, C., Teupser, D., Meisinger, C., Spector, T. D., Kronenberg, F., Prokisch, H., Melzer, D., Peters, A., Deloukas, P., Ferrucci, L., and Waldenberger, M.

Abstract

BACKGROUND: Epigenetic mechanisms might be involved in the regulation of interindividual lipid level variability and thus may contribute to the cardiovascular risk profile. The aim of this study was to investigate the association between genome-wide DNA methylation and blood lipid levels high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, and total cholesterol. Observed DNA methylation changes were also further analyzed to examine their relationship with previous hospitalized myocardial infarction. METHODS AND RESULTS: Genome-wide DNA methylation patterns were determined in whole blood samples of 1776 subjects of the Cooperative Health Research in the Region of Augsburg F4 cohort using the Infinium HumanMethylation450 BeadChip (Illumina). Ten novel lipid-related CpG sites annotated to various genes including ABCG1, MIR33B/SREBF1, and TNIP1 were identified. CpG cg06500161, located in ABCG1, was associated in opposite directions with both high-density lipoprotein cholesterol (beta coefficient=-0.049; P=8.26E-17) and triglyceride levels (beta=0.070; P=1.21E-27). Eight associations were confirmed by replication in the Cooperative Health Research in the Region of Augsburg F3 study (n=499) and in the Invecchiare in Chianti, Aging in the Chianti Area study (n=472). Associations between triglyceride levels and SREBF1 and ABCG1 were also found in adipose tissue of the Multiple Tissue Human Expression Resource cohort (n=634). Expression analysis revealed an association between ABCG1 methylation and lipid levels that might be partly mediated by ABCG1 expression. DNA methylation of ABCG1 might also play a role in previous hospitalized myocardial infarction (odds ratio, 1.15; 95% confidence interval=1.06-1.25). CONCLUSIONS: Epigenetic modifications of the newly identified loci might regulate disturbed blood lipid levels and thus contribute to the development of complex lipid-related diseases., Pfeiffer, Liliane Wahl, Simone Pilling, Luke C Reischl, Eva Sandling, Johanna K Kunze, Sonja Holdt, Lesca M Kretschmer, Anja Schramm, Katharina Adamski, Jerzy Klopp, Norman Illig, Thomas Hedman, Asa K Roden, Michael Hernandez, Dena G Singleton, Andrew B Thasler, Wolfgang E Grallert, Harald Gieger, Christian Herder, Christian Teupser, Daniel Meisinger, Christa Spector, Timothy D Kronenberg, Florian Prokisch, Holger Melzer, David Peters, Annette Deloukas, Panos Ferrucci, Luigi Waldenberger, Melanie 081917/Z/07/Z/Wellcome Trust/United Kingdom Clinical Trial Multicenter Study Research Support, Non-U.S. Gov't United States Circulation. Cardiovascular genetics Circ Cardiovasc Genet. 2015 Apr;8(2):334-42. doi: 10.1161/CIRCGENETICS.114.000804. Epub 2015 Jan 12.

Published
2015

35. Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci

Author

Kirsten, H., Al-Hasani, Hoor, Holdt, L., Gross, A., Beutner, F., Krohn, K., Ahnert, P., Burkhardt, R., Reiche, Kristin, Hackermüller, Jörg, Löffler, M., Teupser, D., Thiery, J., Scholz, M., Kirsten, H., Al-Hasani, Hoor, Holdt, L., Gross, A., Beutner, F., Krohn, K., Ahnert, P., Burkhardt, R., Reiche, Kristin, Hackermüller, Jörg, Löffler, M., Teupser, D., Thiery, J., and Scholz, M.

Abstract

Genetics of gene expression (eQTLs or expression QTLs) has proved an indispensable tool for understanding biological pathways and pathomechanisms of trait associated SNPs. However, power of most genome-wide eQTL studies is still limited. We performed a large eQTL study in peripheral blood mononuclear cells of 2,112 individuals increasing the power to detect trans-effects genome-wide. Going beyond univariate SNP-transcript associations, we analyse relations of eQTLs to biological pathways, polygenetic effects of expression regulation, trans-clusters, and enrichment of co-localised functional elements. We found eQTLs for about 85% of analysed genes, 18% of genes were trans-regulated. Local eSNPs were enriched up to a distance of 5 Mb to the transcript challenging typically implemented ranges of cis-regulations. Pathway enrichment within regulated genes of GWAS-related eSNPs supported functional relevance of identified eQTLs. We demonstrate that nearest genes of GWAS-SNPs might frequently be misleading functional candidates. We identified novel trans-clusters of potential functional relevance for GWAS-SNPs of several phenotypes including obesity-related traits, HDL-cholesterol levels, and haematological phenotypes. We used chromatin immunoprecipitation data for demonstrating biological effects. Yet, we show for strongly heritable transcripts that still little trans-chromosomal heritability is explained by all identified trans-eSNPs, however, our data suggests that most cis-heritability of these transcripts seems explained. Dissection of co-localised functional elements indicated a prominent role of SNPs in loci of pseudogenes and non-coding RNAs for the regulation of coding genes. In summary, our study substantially increases the catalogue of human eQTLs and improves our understanding of the complex genetic regulation of gene-expression, pathways and disease-related processes.

Published
2015

36. Secretory phospholipase A2-IIA and cardiovascular disease: a mendelian randomization study

Author

Holmes, M.V., Simon, T., Exeter, H.J, Folkersen, L., Asselbergs, F.W., Guardiola, M., Cooper, J.A., Palmen, J., Hubacek, J.A., Carruthers, K.F., Horne, B.D., Brunisholz, K.D., Mega, J.L., Van Iperen, E.P., Li, M., Leusink, M., Trompet, S., Verschuren, J.J., Hovingh, G.K., Dehghan, A., Nelson, C.P., Kotti, S., Danchin, N., Scholz, M., Haase, C.L., Rothenbacher, D., Swerdlow, D.I., Kuchenbaecker, K.B., Staines-Urias, E., Goel, A., Van 't Hooft, F., Gertow, K., De Faire, U., Panayiotou, A.G., Tremoli, E., Baldassarre, D., Veglia, F., Holdt, L.M., Beutner, F., Gansevoort. R.T., Navis, G.J., Mateo, L.I., Breitling, L.P., Brenner, H., Thiery, J., Dallmeier, D., Franco-Cereceda, A., Boer, J.M., Stephens, J.W., Hofker, M.H., Tedgui, A., Hofman, A., Uitterlinden, A.G., Adamkova, V., Pitha, J., Onland-Moret, N.C., Cramer, M.J., Nathoe, H.M., Spiering, W., Klungel, O.H., Kumari, M., Whincup, P.H., Morrow, D.A., Braund, P.S., Hall, A.S., Olsson, A.G., Doevendans, P.A., Trip, M.D., Tobin, M.D., Hamsten, A., Watkins, H., Koenig, W., Nicolaides, A.N., Teupser, D., Day, I.N., Carlquist, J.F., Gaunt, T.R., Ford, I., Sattar, N., Tsimikas, S., Schwartz, G.G., Lawlor, D.A., Morris, R.W., Sandhu, M.S., Poledne, R., Maitland-van der Zee, A.H., Khaw, K.T., Keating, B.J., Van der Harst, P., Price, J.F., Mehta, S.R., Yusuf, S., Witteman, J.C., Franco, O.H., Jukema, J.W., De Knijff, P., Tybjaerg-Hansen, A., Rader, D.J., Farrall, M., Samani, N.J., Kivimaki, M., Fox, K.A., Humphries, S.E., Anderson, J.L., Boekholdt, S.M., Palmer, T.M., Eriksson, P., Paré, G., Hingorani, A.D., Sabatine, M.S., Mallat, Z., Casas, J.P., Talmud, P.J., Medicina i Cirurgia, and Universitat Rovira i Virgili.

Subjects
0735-1097, Cardiovascular diseases, Drug development, Epidemiology, Genetics, Mendelian randomization, Sistema cardiovascular--Malalties, Clinical Medicine, Medical and Health Sciences
Abstract

Objectives This study sought to investigate the role of secretory phospholipase A2 (sPLA2)-IIA in cardiovascular disease. Background Higher circulating levels of sPLA2-IIA mass or sPLA 2 enzyme activity have been associated with increased risk of cardiovascular events. However, it is not clear if this association is causal. A recent phase III clinical trial of an sPLA2 inhibitor (varespladib) was stopped prematurely for lack of efficacy. Methods We conducted a Mendelian randomization meta-analysis of 19 general population studies (8,021 incident, 7,513 prevalent major vascular events [MVE] in 74,683 individuals) and 10 acute coronary syndrome (ACS) cohorts (2,520 recurrent MVE in 18,355 individuals) using rs11573156, a variant in PLA2G2A encoding the sPLA2-IIA isoenzyme, as an instrumental variable. Results PLA2G2A rs11573156 C allele associated with lower circulating sPLA2-IIA mass (38% to 44%) and sPLA2 enzyme activity (3% to 23%) per C allele. The odds ratio (OR) for MVE per rs11573156 C allele was 1.02 (95% confidence interval [CI]: 0.98 to 1.06) in general populations and 0.96 (95% CI: 0.90 to 1.03) in ACS cohorts. In the general population studies, the OR derived from the genetic instrumental variable analysis for MVE for a 1-log unit lower sPLA2-IIA mass was 1.04 (95% CI: 0.96 to 1.13), and differed from the non-genetic observational estimate (OR: 0.69; 95% CI: 0.61 to 0.79). In the ACS cohorts, both the genetic instrumental variable and observational ORs showed a null association with MVE. Instrumental variable analysis failed to show associations between sPLA 2 enzyme activity and MVE. Conclusions Reducing sPLA2-IIA mass is unlikely to be a useful therapeutic goal for preventing cardiovascular events.

Published
2013

39. Single Nucleotide Polymorphism in A20 gene regulates TNFalpha expression in atherosclerotic plaque

Author

Gäbel, G, Holdt, LM, Hinterseher, I, Teupser, D, and Bergert, H

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Introduction: Up-regulation of inflammatory responses is considered a driving force of atherosclerotic lesion development. Nuclear factor (NF)-kB plays a major role in regulating these inflammatory processes. Multiple mechanisms normally ensure proper termination of NF-kB activation. In this context,[for full text, please go to the a.m. URL], 128. Kongress der Deutschen Gesellschaft für Chirurgie

Published
2011
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40. A multi-split mapping algorithm for circular RNA, splicing, trans-splicing and fusion detection

Author

Hoffmann, S., Otto, Christian, Doose, G., Tanzer, A., Langenberger, D., Christ, S., Kunz, M., Holdt, L.M., Teupser, D., Hackermüller, Jörg, Stadler, P.F., Hoffmann, S., Otto, Christian, Doose, G., Tanzer, A., Langenberger, D., Christ, S., Kunz, M., Holdt, L.M., Teupser, D., Hackermüller, Jörg, and Stadler, P.F.

Abstract

Numerous high-throughput sequencing studies have focused on detecting conventionally spliced mRNAs in RNA-seq data. However, non-standard RNAs arising through gene fusion, circularization or trans-splicing are often neglected. We introduce a novel, unbiased algorithm to detect splice junctions from single-end cDNA sequences. In contrast to other methods, our approach accommodates multi-junction structures. Our method compares favorably with competing tools for conventionally spliced mRNAs and, with a gain of up to 40% of recall, systematically outperforms them on reads with multiple splits, trans-splicing and circular products. The algorithm is integrated into our mapping tool segemehl (http://www.bioinf.uni-leipzig.de/Software/segemehl/).

Published
2014

46. Quantitative trait loci mapping of the mouse plasma proteome (pQTL)

Author

Holdt, L.M., von Delft, A., Nicolaou, A., Baumann, Sven, Kostrzewa, M., Thiery, J., Teupser, D., Holdt, L.M., von Delft, A., Nicolaou, A., Baumann, Sven, Kostrzewa, M., Thiery, J., and Teupser, D.

Abstract

A current challenge in the era of genome-wide studies is to determine the responsible genes and mechanisms underlying newly identified loci. Screening of the plasma proteome by high-throughput mass spectrometry (MALDI-TOF MS) is considered as a promising approach for identification of metabolic and disease processes. Therefore, plasma proteome screening might be particularly useful for identifying responsible genes when combined with analysis of variation in the genome. Here, we describe a proteomic quantitative trait locus (pQTL) study of plasma proteome screens in an F2 intercross of 455 mice mapped with 177 genetic markers across the genome. 69 of 176 peptides revealed significant LOD-scores (≥5.35) demonstrating strong genetic regulation of distinct components of the plasma proteome. Analyses were confirmed by mechanistic studies and MALDI-TOF/TOF, LC-MS/MS analyses of the two strongest pQTLs: A pQTL for m/z 3494 (LOD 24.9, D11Mit151) was identified as the N-terminal 35 amino acids of hemoglobin subunit A (Hba) and caused by genetic variation in Hba. Another pQTL for m/z 8713 (LOD 36.4; D1Mit111) was caused by variation in apolipoprotein A2 (Apoa2) and co-segregated with HDL-cholesterol. Taken together, we show that genome-wide plasma proteome profiling in combination with genome-wide genetic screening aids in the identification of causal genetic variants affecting abundance of plasma proteins.

Published
2013

47. Secretory Phospholipase A2-IIA and Cardiovascular Disease: A Mendelian Randomization Study.

Author

Medicina i Cirurgia, Universitat Rovira i Virgili., Holmes, M.V., Simon, T., Exeter, H.J, Folkersen, L., Asselbergs, F.W., Guardiola, M., Cooper, J.A., Palmen, J., Hubacek, J.A., Carruthers, K.F., Horne, B.D., Brunisholz, K.D., Mega, J.L., Van Iperen, E.P., Li, M., Leusink, M., Trompet, S., Verschuren, J.J., Hovingh, G.K., Dehghan, A., Nelson, C.P., Kotti, S., Danchin, N., Scholz, M., Haase, C.L., Rothenbacher, D., Swerdlow, D.I., Kuchenbaecker, K.B., Staines-Urias, E., Goel, A., Van 't Hooft, F., Gertow, K., De Faire, U., Panayiotou, A.G., Tremoli, E., Baldassarre, D., Veglia, F., Holdt, L.M., Beutner, F., Gansevoort. R.T., Navis, G.J., Mateo, L.I., Breitling, L.P., Brenner, H., Thiery, J., Dallmeier, D., Franco-Cereceda, A., Boer, J.M., Stephens, J.W., Hofker, M.H., Tedgui, A., Hofman, A., Uitterlinden, A.G., Adamkova, V., Pitha, J., Onland-Moret, N.C., Cramer, M.J., Nathoe, H.M., Spiering, W., Klungel, O.H., Kumari, M., Whincup, P.H., Morrow, D.A., Braund, P.S., Hall, A.S., Olsson, A.G., Doevendans, P.A., Trip, M.D., Tobin, M.D., Hamsten, A., Watkins, H., Koenig, W., Nicolaides, A.N., Teupser, D., Day, I.N., Carlquist, J.F., Gaunt, T.R., Ford, I., Sattar, N., Tsimikas, S., Schwartz, G.G., Lawlor, D.A., Morris, R.W., Sandhu, M.S., Poledne, R., Maitland-van der Zee, A.H., Khaw, K.T., Keating, B.J., Van der Harst, P., Price, J.F., Mehta, S.R., Yusuf, S., Witteman, J.C., Franco, O.H., Jukema, J.W., De Knijff, P., Tybjaerg-Hansen, A., Rader, D.J., Farrall, M., Samani, N.J., Kivimaki, M., Fox, K.A., Humphries, S.E., Anderson, J.L., Boekholdt, S.M., Palmer, T.M., Eriksson, P., Paré, G., Hingorani, A.D., Sabatine, M.S., Mallat, Z., Casas, J.P., Talmud, P.J., Medicina i Cirurgia, Universitat Rovira i Virgili., Holmes, M.V., Simon, T., Exeter, H.J, Folkersen, L., Asselbergs, F.W., Guardiola, M., Cooper, J.A., Palmen, J., Hubacek, J.A., Carruthers, K.F., Horne, B.D., Brunisholz, K.D., Mega, J.L., Van Iperen, E.P., Li, M., Leusink, M., Trompet, S., Verschuren, J.J., Hovingh, G.K., Dehghan, A., Nelson, C.P., Kotti, S., Danchin, N., Scholz, M., Haase, C.L., Rothenbacher, D., Swerdlow, D.I., Kuchenbaecker, K.B., Staines-Urias, E., Goel, A., Van 't Hooft, F., Gertow, K., De Faire, U., Panayiotou, A.G., Tremoli, E., Baldassarre, D., Veglia, F., Holdt, L.M., Beutner, F., Gansevoort. R.T., Navis, G.J., Mateo, L.I., Breitling, L.P., Brenner, H., Thiery, J., Dallmeier, D., Franco-Cereceda, A., Boer, J.M., Stephens, J.W., Hofker, M.H., Tedgui, A., Hofman, A., Uitterlinden, A.G., Adamkova, V., Pitha, J., Onland-Moret, N.C., Cramer, M.J., Nathoe, H.M., Spiering, W., Klungel, O.H., Kumari, M., Whincup, P.H., Morrow, D.A., Braund, P.S., Hall, A.S., Olsson, A.G., Doevendans, P.A., Trip, M.D., Tobin, M.D., Hamsten, A., Watkins, H., Koenig, W., Nicolaides, A.N., Teupser, D., Day, I.N., Carlquist, J.F., Gaunt, T.R., Ford, I., Sattar, N., Tsimikas, S., Schwartz, G.G., Lawlor, D.A., Morris, R.W., Sandhu, M.S., Poledne, R., Maitland-van der Zee, A.H., Khaw, K.T., Keating, B.J., Van der Harst, P., Price, J.F., Mehta, S.R., Yusuf, S., Witteman, J.C., Franco, O.H., Jukema, J.W., De Knijff, P., Tybjaerg-Hansen, A., Rader, D.J., Farrall, M., Samani, N.J., Kivimaki, M., Fox, K.A., Humphries, S.E., Anderson, J.L., Boekholdt, S.M., Palmer, T.M., Eriksson, P., Paré, G., Hingorani, A.D., Sabatine, M.S., Mallat, Z., Casas, J.P., and Talmud, P.J.

Abstract

This study sought to investigate the role of secretory phospholipase A2(sPLA2)-IIA in cardiovascular disease. Higher circulating levels of sPLA2-IIA mass or sPLA2enzyme activity have been associated with increased risk ofcardiovascular events. However, it is not clear if this association is causal. A recent phase III clinical trial of an sPLA2inhibitor (varespladib) was stopped prematurely for lack of efficacy

Published
2013

50. Age-related effects of exercise training on diastolic function in heart failure with reduced ejection fraction: The Leipzig Exercise Intervention in Chronic Heart Failure and Aging (LEICA) Diastolic Dysfunction Study

Author

Sandri, M., primary, Kozarez, I., additional, Adams, V., additional, Mangner, N., additional, Hollriegel, R., additional, Erbs, S., additional, Linke, A., additional, Mobius-Winkler, S., additional, Thiery, J., additional, Kratzsch, J., additional, Teupser, D., additional, Mende, M., additional, Hambrecht, R., additional, Schuler, G., additional, and Gielen, S., additional

Published
2012
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