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1. Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases

Author: Arnold Matthias, Hartsperger Mara L, Baurecht Hansjörg, Rodríguez Elke, Wachinger Benedikt, Franke Andre, Kabesch Michael, Winkelmann Juliane, Pfeufer Arne, Romanos Marcel, Illig Thomas, Mewes Hans-Werner, Stümpflen Volker, and Weidinger Stephan
Subjects: Genome-wide association study, Genetic overlap, Shared variant network, Disease comorbidity, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract: Abstract Background Genome-wide association studies (GWAS) have provided a large set of genetic loci influencing the risk for many common diseases. Association studies typically analyze one specific trait in single populations in an isolated fashion without taking into account the potential phenotypic and genetic correlation between traits. However, GWA data can be efficiently used to identify overlapping loci with analogous or contrasting effects on different diseases. Results Here, we describe a new approach to systematically prioritize and interpret available GWA data. We focus on the analysis of joint and disjoint genetic determinants across diseases. Using network analysis, we show that variant-based approaches are superior to locus-based analyses. In addition, we provide a prioritization of disease loci based on network properties and discuss the roles of hub loci across several diseases. We demonstrate that, in general, agonistic associations appear to reflect current disease classifications, and present the potential use of effect sizes in refining and revising these agonistic signals. We further identify potential branching points in disease etiologies based on antagonistic variants and describe plausible small-scale models of the underlying molecular switches. Conclusions The observation that a surprisingly high fraction (>15%) of the SNPs considered in our study are associated both agonistically and antagonistically with related as well as unrelated disorders indicates that the molecular mechanisms influencing causes and progress of human diseases are in part interrelated. Genetic overlaps between two diseases also suggest the importance of the affected entities in the specific pathogenic pathways and should be investigated further.
Published: 2012
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2. Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Author: Hopfner Franziska, Schormair Barbara, Knauf Franziska, Berthele Achim, Tölle Thomas R, Baron Ralf, Maier Christoph, Treede Rolf-Detlef, Binder Andreas, Sommer Claudia, Maihöfner Christian, Kunz Wolfram, Zimprich Friedrich, Heemann Uwe, Pfeufer Arne, Näbauer Michael, Kääb Stefan, Nowak Barbara, Gieger Christian, Lichtner Peter, Trenkwalder Claudia, Oexle Konrad, and Winkelmann Juliane
Subjects: Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Background Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. Methods In the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the SCARB2 exons. Results A novel homozygous 1 bp deletion (c.111delC) in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA). Conclusions Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features.
Published: 2011
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3. Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes

Author: Pfeufer Arne, Oswald Franz, Zechner Ulrich, Herlyn Holger, Zischler Hans, and Haaf Thomas
Subjects: Evolution, QH359-425
Abstract: Abstract Background KCNE1 represents the regulatory beta-subunit of the slowly activating delayed rectifier potassium channel (IKs). Variants of KCNE1 have repeatedly been linked to the long-QT syndrome (LQTS), a disorder which predisposes to deafness, ventricular tachyarrhythmia, syncope, and sudden cardiac death. Results We here analyze the evolution of the common Gly38Ser variant (rs1805127), using genomic DNAs, complementary DNAs, and HEK293-expressed variants of altogether 19 mammalian species. The between species comparison reveals that the human-specific Gly38Ser polymorphism evolved under strong positive Darwinian selection, probably in adaptation to specific challenges in the fine-tuning of IKs channels. The involved amino acid exchanges (Asp > Gly, Gly > Ser) are moderately radical and do not induce apparent changes in posttranslational modification. According to population genetic analyses (HapMap phase II) a heterozygote advantage accounts for the maintenance of the Gly38Ser polymorphism in humans. On the other hand, the expression of the 38Ser allele seems to be disadvantageous under certain conditions, as suggested by the sporadic deficiency of 38Ser-coding mRNAs in heterozygote Central Europeans and the depletion of homozygotes 38Ser in the Yoruban sample. Conclusion We speculate that individual differences in genomic imprinting or genomic recoding might have contributed to conflicting results of recent association studies between Gly38Ser polymorphism and QT phenotype. The findings thus highlight the relevance of mRNA data in future association studies of genotypes and clinical disorders. To the best of our knowledge, they moreover provide first time evidence for a unique pattern; i.e. coincidence of positive Darwinian selection and polymorphism with a sporadically suppressed expression of one allele.
Published: 2009
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4. Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation

Author: Montpetit Alexandre, Nelis Mari, Pfeufer Arne, Mägi Reedik, Metspalu Andres, and Remm Maido
Subjects: Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract: Abstract Background New technologies have enabled genome-wide association studies to be conducted with hundreds of thousands of genotyped SNPs. Several different first-generation genome-wide panels of SNPs have been commercialized. The total amount of common genetic variation is still unknown; however, the coverage of commercial panels can be evaluated against reference population samples genotyped by the International HapMap project. Less information is available about coverage in samples from other populations. Results In this study we compare four commercial panels: the HumanHap 300 and HumanHap 550 Array Sets from the Illumina Infinium series and the Mapping 100 K and Mapping 500 K Array Sets from the Affymetrix GeneChip series. Tagging performance is compared among HapMap CEPH (CEU), Asian (JPT, CHB) and Yoruba (YRI) population samples. It is also evaluated in an Estonian population sample with more than 1000 individuals genotyped in two 500-kbp ENCODE regions of chromosome 2: ENr112 on 2p16.3 and ENr131 on 2p37.1. Conclusion We found that in a non-reference Caucasian population, commercial SNP panels provide levels of coverage similar to those in the HapMap CEPH population sample. We present the proportions of universal and population-specific SNPs in all the commercial platforms studied.
Published: 2007
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5. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

Author: van Setten, Jessica, Brody, Jennifer A, Jamshidi, Yalda, Swenson, Brenton R, Butler, Anne M, Campbell, Harry, Del Greco, Fabiola M, Evans, Daniel S, Gibson, Quince, Gudbjartsson, Daniel F, Kerr, Kathleen F, Krijthe, Bouwe P, Lyytikäinen, Leo-Pekka, Müller, Christian, Müller-Nurasyid, Martina, Nolte, Ilja M, Padmanabhan, Sandosh, Ritchie, Marylyn D, Robino, Antonietta, Smith, Albert V, Steri, Maristella, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, Ulivi, Sheila, Verweij, Niek, Yin, Xiaoyan, Arnar, David O, Asselbergs, Folkert W, Bader, Joel S, Barnard, John, Bis, Josh, Blankenberg, Stefan, Boerwinkle, Eric, Bradford, Yuki, Buckley, Brendan M, Chung, Mina K, Crawford, Dana, den Hoed, Marcel, Denny, Josh C, Dominiczak, Anna F, Ehret, Georg B, Eijgelsheim, Mark, Ellinor, Patrick T, Felix, Stephan B, Franco, Oscar H, Franke, Lude, Harris, Tamara B, Holm, Hilma, Ilaria, Gandin, Iorio, Annamaria, Kähönen, Mika, Kolcic, Ivana, Kors, Jan A, Lakatta, Edward G, Launer, Lenore J, Lin, Honghuang, Lin, Henry J, Loos, Ruth JF, Lubitz, Steven A, Macfarlane, Peter W, Magnani, Jared W, Leach, Irene Mateo, Meitinger, Thomas, Mitchell, Braxton D, Munzel, Thomas, Papanicolaou, George J, Peters, Annette, Pfeufer, Arne, Pramstaller, Peter P, Raitakari, Olli T, Rotter, Jerome I, Rudan, Igor, Samani, Nilesh J, Schlessinger, David, Silva Aldana, Claudia T, Sinner, Moritz F, Smith, Jonathan D, Snieder, Harold, Soliman, Elsayed Z, Spector, Timothy D, Stott, David J, Strauch, Konstantin, Tarasov, Kirill V, Thorsteinsdottir, Unnur, Uitterlinden, Andre G, Van Wagoner, David R, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Jan Westra, Harm, Wild, Philipp S, Zeller, Tanja, Alonso, Alvaro, Avery, Christy L, Bandinelli, Stefania, Benjamin, Emelia J, Cucca, Francesco, Dörr, Marcus, and Ferrucci, Luigi
Subjects: Biological Sciences, Genetics, Human Genome, Heart Disease, Biotechnology, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Atrial Function, Atrioventricular Node, Electrocardiography, Electrophysiological Phenomena, Female, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Mutation, Missense, Risk Factors
Abstract: Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 European-descent individuals identifies 44 PR interval loci (34 novel). Examination of these loci reveals known and previously not-yet-reported biological processes involved in cardiac atrial electrical activity. Genes in these loci are over-represented in cardiac disease processes including heart block and atrial fibrillation. Variants in over half of the 44 loci were associated with atrial or blood transcript expression levels, or were in high linkage disequilibrium with missense variants. Six additional loci were identified either by meta-analysis of ~105,000 African and European-descent individuals and/or by pleiotropic analyses combining PR interval with heart rate, QRS interval, and atrial fibrillation. These findings implicate developmental pathways, and identify transcription factors, ion-channel genes, and cell-junction/cell-signaling proteins in atrio-ventricular conduction, identifying potential targets for drug development.
Published: 2018

6. Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

Author: Wild, Philipp S, Felix, Janine F, Schillert, Arne, Teumer, Alexander, Chen, Ming-Huei, Leening, Maarten JG, Völker, Uwe, Großmann, Vera, Brody, Jennifer A, Irvin, Marguerite R, Shah, Sanjiv J, Pramana, Setia, Lieb, Wolfgang, Schmidt, Reinhold, Stanton, Alice V, Malzahn, Dörthe, Smith, Albert Vernon, Sundström, Johan, Minelli, Cosetta, Ruggiero, Daniela, Lyytikäinen, Leo-Pekka, Tiller, Daniel, Smith, J Gustav, Monnereau, Claire, Di Tullio, Marco R, Musani, Solomon K, Morrison, Alanna C, Pers, Tune H, Morley, Michael, Kleber, Marcus E, Aragam, Jayashri, Benjamin, Emelia J, Bis, Joshua C, Bisping, Egbert, Broeckel, Ulrich, Cheng, Susan, Deckers, Jaap W, Del Greco M, Fabiola, Edelmann, Frank, Fornage, Myriam, Franke, Lude, Friedrich, Nele, Harris, Tamara B, Hofer, Edith, Hofman, Albert, Huang, Jie, Hughes, Alun D, Kähönen, Mika, investigators, KNHI, Kruppa, Jochen, Lackner, Karl J, Lannfelt, Lars, Laskowski, Rafael, Launer, Lenore J, Leosdottir, Margrét, Lin, Honghuang, Lindgren, Cecilia M, Loley, Christina, MacRae, Calum A, Mascalzoni, Deborah, Mayet, Jamil, Medenwald, Daniel, Morris, Andrew P, Müller, Christian, Müller-Nurasyid, Martina, Nappo, Stefania, Nilsson, Peter M, Nuding, Sebastian, Nutile, Teresa, Peters, Annette, Pfeufer, Arne, Pietzner, Diana, Pramstaller, Peter P, Raitakari, Olli T, Rice, Kenneth M, Rivadeneira, Fernando, Rotter, Jerome I, Ruohonen, Saku T, Sacco, Ralph L, Samdarshi, Tandaw E, Schmidt, Helena, Sharp, Andrew SP, Shields, Denis C, Sorice, Rossella, Sotoodehnia, Nona, Stricker, Bruno H, Surendran, Praveen, Thom, Simon, Töglhofer, Anna M, Uitterlinden, André G, Wachter, Rolf, Völzke, Henry, Ziegler, Andreas, Münzel, Thomas, März, Winfried, Cappola, Thomas P, Hirschhorn, Joel N, Mitchell, Gary F, Smith, Nicholas L, and Fox, Ervin R
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Prevention, Cardiovascular, Heart Disease, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Female, Genetic Loci, Genome-Wide Association Study, Heart Diseases, Humans, Male, Myocardium, Polymorphism, Single Nucleotide, Quantitative Trait, Heritable, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: BackgroundUnderstanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function.MethodsA GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function.ResultsThe discovery analysis included 21 cohorts for structural and systolic function traits (n = 32,212) and 17 cohorts for diastolic function traits (n = 21,852). Replication was performed in 5 cohorts (n = 14,321) and 6 cohorts (n = 16,308), respectively. Besides 5 previously reported loci, the combined meta-analysis identified 10 additional genome-wide significant SNPs: rs12541595 near MTSS1 and rs10774625 in ATXN2 for LV end-diastolic internal dimension; rs806322 near KCNRG, rs4765663 in CACNA1C, rs6702619 near PALMD, rs7127129 in TMEM16A, rs11207426 near FGGY, rs17608766 in GOSR2, and rs17696696 in CFDP1 for aortic root diameter; and rs12440869 in IQCH for Doppler transmitral A-wave peak velocity. Findings were in part validated in other cohorts and in GWAS of related disease traits. The genetic loci showed associations with putative signaling pathways, and with gene expression in whole blood, monocytes, and myocardial tissue.ConclusionThe additional genetic loci identified in this large meta-analysis of cardiac structure and function provide insights into the underlying genetic architecture of cardiac structure and warrant follow-up in future functional studies.FundingFor detailed information per study, see Acknowledgments.
Published: 2017

7. 52 Genetic Loci Influencing Myocardial Mass

Author: van der Harst, Pim, van Setten, Jessica, Verweij, Niek, Vogler, Georg, Franke, Lude, Maurano, Matthew T, Wang, Xinchen, Leach, Irene Mateo, Eijgelsheim, Mark, Sotoodehnia, Nona, Hayward, Caroline, Sorice, Rossella, Meirelles, Osorio, Lyytikäinen, Leo-Pekka, Polašek, Ozren, Tanaka, Toshiko, Arking, Dan E, Ulivi, Sheila, Trompet, Stella, Müller-Nurasyid, Martina, Smith, Albert V, Dörr, Marcus, Kerr, Kathleen F, Magnani, Jared W, Del Greco M., Fabiola, Zhang, Weihua, Nolte, Ilja M, Silva, Claudia T, Padmanabhan, Sandosh, Tragante, Vinicius, Esko, Tõnu, Abecasis, Gonçalo R, Adriaens, Michiel E, Andersen, Karl, Barnett, Phil, Bis, Joshua C, Bodmer, Rolf, Buckley, Brendan M, Campbell, Harry, Cannon, Megan V, Chakravarti, Aravinda, Chen, Lin Y, Delitala, Alessandro, Devereux, Richard B, Doevendans, Pieter A, Dominiczak, Anna F, Ferrucci, Luigi, Ford, Ian, Gieger, Christian, Harris, Tamara B, Haugen, Eric, Heinig, Matthias, Hernandez, Dena G, Hillege, Hans L, Hirschhorn, Joel N, Hofman, Albert, Hubner, Norbert, Hwang, Shih-Jen, Iorio, Annamaria, Kähönen, Mika, Kellis, Manolis, Kolcic, Ivana, Kooner, Ishminder K, Kooner, Jaspal S, Kors, Jan A, Lakatta, Edward G, Lage, Kasper, Launer, Lenore J, Levy, Daniel, Lundby, Alicia, Macfarlane, Peter W, May, Dalit, Meitinger, Thomas, Metspalu, Andres, Nappo, Stefania, Naitza, Silvia, Neph, Shane, Nord, Alex S, Nutile, Teresa, Okin, Peter M, Olsen, Jesper V, Oostra, Ben A, Penninger, Josef M, Pennacchio, Len A, Pers, Tune H, Perz, Siegfried, Peters, Annette, Pinto, Yigal M, Pfeufer, Arne, Pilia, Maria Grazia, Pramstaller, Peter P, Prins, Bram P, Raitakari, Olli T, Raychaudhuri, Soumya, Rice, Ken M, Rossin, Elizabeth J, Rotter, Jerome I, Schafer, Sebastian, Schlessinger, David, and Schmidt, Carsten O
Subjects: Medical Physiology, Biomedical and Clinical Sciences, Heart Disease - Coronary Heart Disease, Human Genome, Heart Disease, Biotechnology, Cardiovascular, Genetics, 2.1 Biological and endogenous factors, Animals, Cardiomegaly, Genetic Loci, Genome-Wide Association Study, Humans, electrocardiogram, genetic association study, heart failure, left ventricular hypertrophy, QRS, Cardiorespiratory Medicine and Haematology, Public Health and Health Services, Cardiovascular System & Hematology, Cardiovascular medicine and haematology
Abstract: BackgroundMyocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG). Abnormal QRS amplitude or duration reflect changes in myocardial mass and conduction, and are associated with increased risk of heart failure and death.ObjectivesThis meta-analysis sought to gain insights into the genetic determinants of myocardial mass.MethodsWe carried out a genome-wide association meta-analysis of 4 QRS traits in up to 73,518 individuals of European ancestry, followed by extensive biological and functional assessment.ResultsWe identified 52 genomic loci, of which 32 are novel, that are reliably associated with 1 or more QRS phenotypes at p < 1 × 10(-8). These loci are enriched in regions of open chromatin, histone modifications, and transcription factor binding, suggesting that they represent regions of the genome that are actively transcribed in the human heart. Pathway analyses provided evidence that these loci play a role in cardiac hypertrophy. We further highlighted 67 candidate genes at the identified loci that are preferentially expressed in cardiac tissue and associated with cardiac abnormalities in Drosophila melanogaster and Mus musculus. We validated the regulatory function of a novel variant in the SCN5A/SCN10A locus in vitro and in vivo.ConclusionsTaken together, our findings provide new insights into genes and biological pathways controlling myocardial mass and may help identify novel therapeutic targets.
Published: 2016

8. Community-driven development of a modified progression-free survival ratio for precision oncology

Author: Mock, Andreas, Heilig, Christoph E, Kreutzfeldt, Simon, Huebschmann, Daniel, Heining, Christoph, Schröck, Evelin, Brors, Benedikt, Stenzinger, Albrecht, Jäger, Dirk, Schlenk, Richard, Glimm, Hanno, Fröhling, Stefan, Horak, Peter, Apostolidis, Leonidas, Augustin, Marinela, Aust, Daniela, Bhatti, Irfan Ahmed, Bloehdorn, Johannes, Brendel, Cornelia, Britschgi, Christian, Braess, Jan, Burdach, Stefan, Busch, Elena, Casuscelli, Jozefina, Desuki, Alexander, Deutsch, Thomas, Dietrich, Mareike, Ehmer, Ursula, Ettrich, Thomas J, Falkenhorst, Johanna, Fehm, Tanja, Flörcken, Anne, Forschner, Andrea, Fuxius, Stefan, Gonzales-Carmona, Maria, Griesinger, Frank, Grill, Sabine, Gröschel, Stefan, Haag, Georg Martin, Haag, Ulrich, Halama, Niels, Hebart, Holger, Heidger, Nina, Hermes, Barbara, Hess, Georg, Hettmer, Simone, Hoechstetter, Manuela, Hoffmann, Martin, Hüttner, Felix J, Illert, Anna L, Jenzer, Maximilian, Kasper, Bernd, Kasper-Virchow, Stefan, Kindler, Thomas, Koscielniak, Ewa, Krönke, Jan, Kühn, Michael, Kunzmann, Volker, Lang, Alois, Leichsenring, Jonas, Livingstone, Elisabeth, Liotta, Lucia, Luley, Kim, Mack, Elisabeth, Martens, Uwe M, Metzeler, Klaus, Middeke, Jan Moritz, Möhrmann, Lino, Jayarama-Naidu, Roopa, Pape, Ulrich-Frank, Perkhofer, Lukas, Pfeufer, Arne, Pixberg, Constantin, Quante, Michael, Rendenbach, Bernhard, Rieke, Damian, Rothermundt, Christian, Sagerer, Andre Norbert, Salzmann, Martin, Saur, Dieter, Schilling, Bastian, Schleicher, Jan, Schlenska-Lange, Anke, Schmidt, Thomas, Schmitz, Sophia, Schölch, Sebastian, Shah, Rajiv, Shoumariyeh, Khalid, Siebenhüner, Alexander, Singh, Martin, Siveke, Jens, Springfeld, Christoph, Starke, Helen, Strobel, Sophia, Teleanu, Veronica, Thon, Niklas, Wagner, Sebastian, Walle, Thomas, Westphalen, Benedikt, Whitlock, Bettina, Winkler, Eva, Wirsik, Naita Maren, Woydack, Lena, Bois, Angelika Zabel-du, and Zschäbitz, Stefanie
Published: 2019
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9. A Common Genetic Variant Is Associated with Adult and Childhood Obesity

Author: Herbert, Alan, Gerry, Norman P., McQueen, Matthew B., Heid, Iris M., Pfeufer, Arne, Illig, Thomas, Meitinger, Thomas, Hunter, David, Hu, Frank B., Colditz, Graham, Hinney, Anke, Hebebrand, Johannes, Koberwitz, Kerstin, Zhu, Xiaofeng, Cooper, Richard, Ardlie, Kristin, Lyon, Helen, Hirschhorn, Joel N., Laird, Nan M., Lenburg, Marc E., Lange, Christoph, and Christman, Michael F.
Published: 2006

10. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

Author: Sotoodehnia, Nona, Isaacs, Aaron, de Bakker, Paul IW, Dörr, Marcus, Newton-Cheh, Christopher, Nolte, Ilja M, van der Harst, Pim, Müller, Martina, Eijgelsheim, Mark, Alonso, Alvaro, Hicks, Andrew A, Padmanabhan, Sandosh, Hayward, Caroline, Smith, Albert Vernon, Polasek, Ozren, Giovannone, Steven, Fu, Jingyuan, Magnani, Jared W, Marciante, Kristin D, Pfeufer, Arne, Gharib, Sina A, Teumer, Alexander, Li, Man, Bis, Joshua C, Rivadeneira, Fernando, Aspelund, Thor, Köttgen, Anna, Johnson, Toby, Rice, Kenneth, Sie, Mark PS, Wang, Ying A, Klopp, Norman, Fuchsberger, Christian, Wild, Sarah H, Leach, Irene Mateo, Estrada, Karol, Völker, Uwe, Wright, Alan F, Asselbergs, Folkert W, Qu, Jiaxiang, Chakravarti, Aravinda, Sinner, Moritz F, Kors, Jan A, Petersmann, Astrid, Harris, Tamara B, Soliman, Elsayed Z, Munroe, Patricia B, Psaty, Bruce M, Oostra, Ben A, Cupples, L Adrienne, Perz, Siegfried, de Boer, Rudolf A, Uitterlinden, André G, Völzke, Henry, Spector, Timothy D, Liu, Fang-Yu, Boerwinkle, Eric, Dominiczak, Anna F, Rotter, Jerome I, van Herpen, Gé, Levy, Daniel, Wichmann, H-Erich, van Gilst, Wiek H, Witteman, Jacqueline CM, Kroemer, Heyo K, Kao, WH Linda, Heckbert, Susan R, Meitinger, Thomas, Hofman, Albert, Campbell, Harry, Folsom, Aaron R, van Veldhuisen, Dirk J, Schwienbacher, Christine, O'Donnell, Christopher J, Volpato, Claudia Beu, Caulfield, Mark J, Connell, John M, Launer, Lenore, Lu, Xiaowen, Franke, Lude, Fehrmann, Rudolf SN, te Meerman, Gerard, Groen, Harry JM, Weersma, Rinse K, van den Berg, Leonard H, Wijmenga, Cisca, Ophoff, Roel A, Navis, Gerjan, Rudan, Igor, Snieder, Harold, Wilson, James F, Pramstaller, Peter P, Siscovick, David S, Wang, Thomas J, Gudnason, Vilmundur, van Duijn, Cornelia M, Felix, Stephan B, Fishman, Glenn I, Jamshidi, Yalda, and Ch Stricker, Bruno H
Subjects: Biological Sciences, Genetics, Human Genome, Heart Disease, Cardiovascular, Animals, Animals, Newborn, Chromosomes, Human, Computational Biology, Electrocardiography, Genetic Loci, Genome-Wide Association Study, Heart Conduction System, Humans, Mice, Mice, Transgenic, Models, Animal, Myocytes, Cardiac, NAV1.8 Voltage-Gated Sodium Channel, Polymorphism, Single Nucleotide, Sodium Channels, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: The QRS interval, from the beginning of the Q wave to the end of the S wave on an electrocardiogram, reflects ventricular depolarization and conduction time and is a risk factor for mortality, sudden death and heart failure. We performed a genome-wide association meta-analysis in 40,407 individuals of European descent from 14 studies, with further genotyping in 7,170 additional Europeans, and we identified 22 loci associated with QRS duration (P < 5 × 10(-8)). These loci map in or near genes in pathways with established roles in ventricular conduction such as sodium channels, transcription factors and calcium-handling proteins, but also point to previously unidentified biologic processes, such as kinase inhibitors and genes related to tumorigenesis. We demonstrate that SCN10A, a candidate gene at the most significantly associated locus in this study, is expressed in the mouse ventricular conduction system, and treatment with a selective SCN10A blocker prolongs QRS duration. These findings extend our current knowledge of ventricular depolarization and conduction.
Published: 2010

11. Genome-wide association study identifies eight loci associated with blood pressure

Author: Newton-Cheh, Christopher, Johnson, Toby, Gateva, Vesela, Tobin, Martin D, Bochud, Murielle, Coin, Lachlan, Najjar, Samer S, Zhao, Jing Hua, Heath, Simon C, Eyheramendy, Susana, Papadakis, Konstantinos, Voight, Benjamin F, Scott, Laura J, Zhang, Feng, Farrall, Martin, Tanaka, Toshiko, Wallace, Chris, Chambers, John C, Khaw, Kay-Tee, Nilsson, Peter, van der Harst, Pim, Polidoro, Silvia, Grobbee, Diederick E, Onland-Moret, N Charlotte, Bots, Michiel L, Wain, Louise V, Elliott, Katherine S, Teumer, Alexander, Luan, Jian'an, Lucas, Gavin, Kuusisto, Johanna, Burton, Paul R, Hadley, David, McArdle, Wendy L, Brown, Morris, Dominiczak, Anna, Newhouse, Stephen J, Samani, Nilesh J, Webster, John, Zeggini, Eleftheria, Beckmann, Jacques S, Bergmann, Sven, Lim, Noha, Song, Kijoung, Vollenweider, Peter, Waeber, Gerard, Waterworth, Dawn M, Yuan, Xin, Groop, Leif, Orho-Melander, Marju, Allione, Alessandra, Di Gregorio, Alessandra, Guarrera, Simonetta, Panico, Salvatore, Ricceri, Fulvio, Romanazzi, Valeria, Sacerdote, Carlotta, Vineis, Paolo, Barroso, Inês, Sandhu, Manjinder S, Luben, Robert N, Crawford, Gabriel J, Jousilahti, Pekka, Perola, Markus, Boehnke, Michael, Bonnycastle, Lori L, Collins, Francis S, Jackson, Anne U, Mohlke, Karen L, Stringham, Heather M, Valle, Timo T, Willer, Cristen J, Bergman, Richard N, Morken, Mario A, Döring, Angela, Gieger, Christian, Illig, Thomas, Meitinger, Thomas, Org, Elin, Pfeufer, Arne, Wichmann, H Erich, Kathiresan, Sekar, Marrugat, Jaume, O'Donnell, Christopher J, Schwartz, Stephen M, Siscovick, David S, Subirana, Isaac, Freimer, Nelson B, Hartikainen, Anna-Liisa, McCarthy, Mark I, O'Reilly, Paul F, Peltonen, Leena, Pouta, Anneli, de Jong, Paul E, Snieder, Harold, van Gilst, Wiek H, Clarke, Robert, Goel, Anuj, Hamsten, Anders, and Peden, John F
Subjects: Biological Sciences, Genetics, Hypertension, Cardiovascular, Prevention, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adaptor Proteins, Signal Transducing, Blood Pressure, Cardiovascular Diseases, Chromosome Mapping, Cytochrome P-450 CYP1A2, DNA-Binding Proteins, Diastole, Europe, Fibroblast Growth Factor 5, Genetic Variation, Genome-Wide Association Study, Humans, India, Intracellular Signaling Peptides and Proteins, Methylenetetrahydrofolate Reductase (NADPH2), Open Reading Frames, Phospholipase C delta, Polymorphism, Single Nucleotide, Proteins, Steroid 17-alpha-Hydroxylase, Systole, White People, Wellcome Trust Case Control Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N ≤ 71,225 European ancestry, N ≤ 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N = 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10(-24)), CYP1A2 (P = 1 × 10(-23)), FGF5 (P = 1 × 10(-21)), SH2B3 (P = 3 × 10(-18)), MTHFR (P = 2 × 10(-13)), c10orf107 (P = 1 × 10(-9)), ZNF652 (P = 5 × 10(-9)) and PLCD3 (P = 1 × 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
Published: 2009

12. Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations

Author: Newton-Cheh, Christopher, Johnson, Toby, Gateva, Vesela, Tobin, Martin D., Bochud, Murielle, Coin, Lachlan, Najjar, Samer S., Zhao, Jing Hua, Heath, Simon C., Eyheramendy, Susana, Papadakis, Konstantinos, Voight, Benjamin F., Scott, Laura J., Zhang, Feng, Farrall, Martin, Tanaka, Toshiko, Wallace, Chris, Chambers, John C., Khaw, Kay-Tee, Nilsson, Peter, van der Harst, Pim, Polidoro, Silvia, Grobbee, Diederick E., Onland-Moret, N. Charlotte, Bots, Michiel L., Wain, Louise V., Elliott, Katherine S., Teumer, Alexander, Luan, Jian’an, Lucas, Gavin, Kuusisto, Johanna, Burton, Paul R., Hadley, David, McArdle, Wendy L., Brown, Morris, Dominiczak, Anna, Newhouse, Stephen J., Samani, Nilesh J., Webster, John, Zeggini, Eleftheria, Beckmann, Jacques S., Bergmann, Sven, Lim, Noha, Song, Kijoung, Vollenweider, Peter, Waeber, Gerard, Waterworth, Dawn M., Yuan, Xin, Groop, Leif, Orho-Melander, Marju, Allione, Alessandra, Di Gregorio, Alessandra, Guarrera, Simonetta, Panico, Salvatore, Ricceri, Fulvio, Romanazzi, Valeria, Sacerdote, Carlotta, Vineis, Paolo, Barroso, Inês, Sandhu, Manjinder S., Luben, Robert N., Crawford, Gabriel J., Jousilahti, Pekka, Perola, Markus, Boehnke, Michael, Bonnycastle, Lori L., Collins, Francis S., Jackson, Anne U., Mohlke, Karen L., Stringham, Heather M., Valle, Timo T., Willer, Cristen J., Bergman, Richard N., Morken, Mario A., Döring, Angela, Gieger, Christian, Illig, Thomas, Meitinger, Thomas, Org, Elin, Pfeufer, Arne, Wichmann, H. Erich, Kathiresan, Sekar, Marrugat, Jaume, O’Donnell, Christopher J., Schwartz, Stephen M., Siscovick, David S., Subirana, Isaac, Freimer, Nelson B., Hartikainen, Anna-Liisa, McCarthy, Mark I., O’Reilly, Paul F., Peltonen, Leena, Pouta, Anneli, de Jong, Paul E., Snieder, Harold, van Gilst, Wiek H., Clarke, Robert, Goel, Anuj, Hamsten, Anders, Peden, John F., Seedorf, Udo, Syvänen, Ann-Christine, Tognoni, Giovanni, Lakatta, Edward G., Sanna, Serena, Scheet, Paul, Schlessinger, David, Scuteri, Angelo, Dörr, Marcus, Ernst, Florian, Felix, Stephan B., Homuth, Georg, Lorbeer, Roberto, Reffelmann, Thorsten, Rettig, Rainer, Völker, Uwe, Galan, Pilar, Gut, Ivo G., Hercberg, Serge, Lathrop, G. Mark, Zeleneka, Diana, Deloukas, Panos, Soranzo, Nicole, Williams, Frances M., Zhai, Guangju, Salomaa, Veikko, Laakso, Markku, Elosua, Roberto, Forouhi, Nita G., Völzke, Henry, Uiterwaal, Cuno S., van der Schouw, Yvonne T, Numans, Mattijs E., Matullo, Giuseppe, Navis, Gerjan, Berglund, Göran, Bingham, Sheila A., Kooner, Jaspal S., Paterson, Andrew D., Connell, John M., Bandinelli, Stefania, Ferrucci, Luigi, Watkins, Hugh, Spector, Tim D., Tuomilehto, Jaakko, Altshuler, David, Strachan, David P., Laan, Maris, Meneton, Pierre, Wareham, Nicholas J., Uda, Manuela, Jarvelin, Marjo-Riitta, Mooser, Vincent, Melander, Olle, Loos, Ruth J.F., Elliott, Paul, Abecasis, Gonçalo R., Caulfield, Mark, Munroe, Patricia B., Ganesh, Santhi K., Chasman, Daniel I., Larson, Martin G., Guo, Xiuqing, Verwoert, Germain, Bis, Joshua C., Gu, Xiangjun, Smith, Albert V., Yang, Min-Lee, Zhang, Yan, Ehret, Georg, Rose, Lynda M., Hwang, Shih-Jen, Papanicolau, George J., Sijbrands, Eric J., Rice, Kenneth, Eiriksdottir, Gudny, Pihur, Vasyl, Ridker, Paul M., Vasan, Ramachandran S., Raffel, Leslie J., Amin, Najaf, Rotter, Jerome I., Liu, Kiang, Launer, Lenore J., Xu, Ming, Morrison, Alanna C., Johnson, Andrew D., Vaidya, Dhananjay, Dehghan, Abbas, Li, Guo, Bouchard, Claude, Harris, Tamara B., Zhang, He, Boerwinkle, Eric, Gao, Wei, Uitterlinden, Andre G., Rivadeneira, Fernando, Hofman, Albert, Franco, Oscar H., Huo, Yong, Witteman, Jacqueline C.M., Gudnason, Vilmundur, Palmas, Walter, van Duijn, Cornelia, Fornage, Myriam, Levy, Daniel, Psaty, Bruce M., and Chakravarti, Aravinda
Published: 2014
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13. An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

Author: Kapoor, Ashish, Sekar, Rajesh B., Hansen, Nancy F., Fox-Talbot, Karen, Morley, Michael, Pihur, Vasyl, Chatterjee, Sumantra, Brandimarto, Jeffrey, Moravec, Christine S., Pulit, Sara L., Pfeufer, Arne, Mullikin, Jim, Ross, Mark, Green, Eric D., Bentley, David, Newton-Cheh, Christopher, Boerwinkle, Eric, Tomaselli, Gordon F., Cappola, Thomas P., Arking, Dan E., Halushka, Marc K., and Chakravarti, Aravinda
Published: 2014
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14. REduction of THRomboembolic EVents during Ablation using the laserballoon: The RETHREVA registry

Author: Eichenlaub, Martin, Pfeufer, Arne, Behrens, Lars, Klauss, Volker, Roettinger, Michael, Brodherr, Turgut, and Lewalter, Thorsten
Published: 2018
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15. Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations

Author: Ortiz-Bonnin, Beatriz, Rinné, Susanne, Moss, Robin, Streit, Anne K., Scharf, Michael, Richter, Katrin, Stöber, Anika, Pfeufer, Arne, Seemann, Gunnar, Kääb, Stefan, Beckmann, Britt-Maria, and Decher, Niels
Published: 2016
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16. Candidate gene variants of the immune system and sudden infant death syndrome

Author: Fard, Delnaz, Läer, Katharina, Rothämel, Thomas, Schürmann, Peter, Arnold, Matthias, Cohen, Marta, Vennemann, Mechtild, Pfeiffer, Heidi, Bajanowski, Thomas, Pfeufer, Arne, Dörk, Thilo, and Klintschar, Michael
Published: 2016
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17. Functional characterization and pathophysiological evaluation of the Olfactomedin-like 2B gene

Author: Pfeufer, Arne (Priv.-Doz. Dr.), Pfeufer, Arne (Priv.-Doz. Dr.);Mewes, Hans-Werner (Prof. Dr.), Plötz, Tanja Angelika, Pfeufer, Arne (Priv.-Doz. Dr.), Pfeufer, Arne (Priv.-Doz. Dr.);Mewes, Hans-Werner (Prof. Dr.), and Plötz, Tanja Angelika
Abstract: Impaired cardiac repolarization can induce life-threatening ventricular arrhythmias and sudden death. While extreme repolarization disturbances occur in the rare monogenic short- and long-QT syndromes, common genetic, non-genetic and exogenous factors such as changes in body temperature are known to potentially trigger arrhythmias in the general population. Genome-wide association studies have mapped the strongest common genetic modifier of QT interval in the NOS1AP-OLFML2B genomic region in 1q23.3. This study investigated the contribution of the olfactomedin-like 2B protein (OLFML2B) to the cardiac repolarization process. As mutations in the olfactomedin paralog myocilin cause disease by impairing protein secretion, wildtype OLFML2B and 23 missense variants were characterized for their temperature dependent secretional behaviour. Monoallelic mutations were identified in patients with atrial (AF) and ventricular arrhythmias (LQT), as well as dilated cardiomyopathy (DCM) and sudden infant death syndrome (SIDS) while three common OLFML2B variants were also analysed. Upon recombinant expression in HEK293 cells, cytosolic OLFML2B levels were indistinguishable, but levels of secreted protein varied strongly by temperature and variant. Combined analysis illustrated that protein secretion correlated highly with population allele frequency and temperature: Poorly secreted variants were rare at the population level and originated exclusively from patients with SIDS, AF or LQT. These findings suggest a role for OLFML2B in fever-triggered impaired cardiac repolarization and for rare OLFML2B mutations predisposing to repolarization induced arrhythmia and sudden cardiac death. Additional evidence for the pathogenicity of OLFML2B is indicated by the pronounced dominant effect of the mutated OLFML2B protein on the wildtype. Consequently, in a heterozygous genotype the wildtype allele is incapable of rescuing the non-secretion caused by the mutant allele, especially since the effec, Die Störung kardialer Repolarisation kann zu lebensbedrohlichen ventrikulären Arrhythmien und zum plötzlichen Herztod führen. Während bei seltenen monogenen Short- und Long-QT-Syndromen extreme Repolarisationsstörungen auftreten, können auch häufige genetische, nicht-genetische und exogene Faktoren wie Veränderungen der Körpertemperatur Arrhythmien in der Bevölkerung auslösen. Genomweite Assoziationsstudien haben den stärksten genomischen Modifier des QT-Intervalls in der Region 1q23.3 der Gene NOS1AP-OLFML2B lokalisiert. In dieser Arbeit wurde der Beitrag des Proteins Olfactomedin-like 2B (OLFML2B) zur kardialen Repolarisation untersucht. Da Mutationen im Paralog Myocilin aufgrund verminderter Proteinsekretion Krankheiten verursachen, ist das temperaturabhängige Sekretionsverhalten von Wildtyp-OLFML2B und 23 Missense-Varianten charakterisiert worden. Monoallelische Mutationen konnten bei Patienten mit atrialer (AF) und ventrikulärer Arrhythmie (LQT), dilatativer Kardiomyopathie (DCM) und plötzlichem Kindstod (SIDS) identifiziert werden; zusätzlich zu diesen Mutationen wurden drei häufige OLFML2B-Varianten untersucht. Während die zytosolischen Proteinkonzentrationen keine Unterschiede zeigten, variierten die Werte für sekretiertes OLFML2B je nach Temperatur und Proteinvariante erheblich. Kombinierte Analysen ließen auf eine starke Korrelation der Proteinsekretion mit der Temperatur und der Allelfrequenz in der Population schließen: Schlecht sekretierende Varianten kamen selten auf der Bevölkerungsebene vor und stammten ausschließlich von Patienten mit SIDS, AF oder LQT. Diese Ergebnisse deuten auf eine Rolle von OLFML2B bei fieberbedingten kardialen Repolarisationsstörungen und seltenen OLFML2B-Mutationen hin, welche zu ventrikulären Arrhythmien und plötzlichem Herztod führen können. Einen weiteren Hinweis auf die Pathogenität von OLFML2B liefert der ausgeprägte dominante Effekt des mutierten OLFML2B-Proteins auf den Wildtyp. Dadurch wird im heterozygoten Genotyp ei
Published: 2021

18. Etablierung und Validierung eines familienspezifischen Testsystems für direkten und indirekten Gentest bei Präimplantationsdiagnostik (PID)

Author: Pfeufer, Arne (Priv.-Doz., Dr.), Pfeufer, Arne (Priv.-Doz., Dr.);Höfele, Julia (Prof. Dr.), Kazak, Beray, Pfeufer, Arne (Priv.-Doz., Dr.), Pfeufer, Arne (Priv.-Doz., Dr.);Höfele, Julia (Prof. Dr.), and Kazak, Beray
Abstract: Die Präimplantationsdiagnostik (PID) ermöglicht Paaren, in deren Familien eine schwere monogene Erkrankung aufgetreten ist, das Risiko für die Geburt eines Kindes, das von dieser Erkrankung betroffen ist, nahezu vollständig auszuschließen. Der Schwerpunkt dieser Dissertation war es, ein familienspezifisches Testsystem für Trophektoderm-Biopsate bei PID auf der Basis der Qualitätsrichtlinien der Europäischen Gesellschaft für humane Reproduktion und Embryologie (ESHRE) für eine Familie, die von der monogenen Erkrankung Osteogenesis imperfecta Typ I betroffen ist, zu erstellen und zu validieren. Die Änderung des Embryonenschutzgesetzes im Jahr 2011 durch Einführung des §3a ermöglichte die PID in Deutschland., Preimplantation genetic diagnosis (PGD) enables couples, whose families are affected by a monogenic disease, to almost exclude the probability of birth of an affected child. The objective of this thesis was to establish and validate a PGD assay compatible with the ESHRE guidelines (European Society for Human Reproduction and Embryology) for a specific couple affected by a severe phenotype of the monogenic disease Osteogenesis imperfecta type I. In 2011 paragraph §3a was implemented in the embryonic protection law that enabled PGD in Germany.
Published: 2021

19. NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality

Author: Böger, Carsten A., Gorski, Mathias, McMahon, Gearoid M., Xu, Huichun, Chang, Yen-Pei C., van der Most, Peter J., Navis, Gerjan, Nolte, Ilja M., de Borst, Martin H., Zhang, Weihua, Lehne, Benjamin, Loh, Marie, Tan, Sian-Tsung, Boerwinkle, Eric, Grams, Morgan E., Sekula, Peggy, Li, Man, Wilmot, Beth, Moon, James G., Scheet, Paul, Cucca, Francesco, Xiao, Xiangjun, Lyytikäinen, Leo-Pekka, Delgado, Graciela, Grammer, Tanja B., Kleber, Marcus E., Sedaghat, Sanaz, Rivadeneira, Fernando, Corre, Tanguy, Kutalik, Zoltan, Bergmann, Sven, Nielson, Carrie M., Srikanth, Priya, Teumer, Alexander, Müller-Nurasyid, Martina, Brockhaus, Anne Catharina, Pfeufer, Arne, Rathmann, Wolfgang, Peters, Annette, Matsumoto, Martha, de Andrade, Mariza, Atkinson, Elizabeth J., Robinson-Cohen, Cassianne, de Boer, Ian H., Hwang, Shih-Jen, Heid, Iris M., Gögele, Martin, Concas, Maria Pina, Tanaka, Toshiko, Bandinelli, Stefania, Nalls, Mike A., Singleton, Andrew, Tajuddin, Salman M., Adeyemo, Adebowale, Zhou, Jie, Doumatey, Ayo, McWeeney, Shannon, Murabito, Joanne, Franceschini, Nora, Flessner, Michael, Shlipak, Michael, Wilson, James G., Chen, Guanjie, Rotimi, Charles N., Zonderman, Alan B., Evans, Michele K., Ferrucci, Luigi, Devuyst, Olivier, Pirastu, Mario, Shuldiner, Alan, Hicks, Andrew A., Pramstaller, Peter Paul, Kestenbaum, Bryan, Kardia, Sharon L.R., Turner, Stephen T., Study, LifeLines Cohort, Briske, Tamara Ellefson, Gieger, Christian, Strauch, Konstantin, Meisinger, Christa, Meitinger, Thomas, Völker, Uwe, Nauck, Matthias, Völzke, Henry, Vollenweider, Peter, Bochud, Murielle, Waeber, Gerard, Kähönen, Mika, Lehtimäki, Terho, März, Winfried, Dehghan, Abbas, Franco, Oscar H., Uitterlinden, Andre G., Hofman, Albert, Taylor, Herman A., Chambers, John C., Kooner, Jaspal S., Fox, Caroline S., Hitzemann, Robert, Orwoll, Eric S., Pattaro, Cristian, Schlessinger, David, Köttgen, Anna, Snieder, Harold, Parsa, Afshin, Cohen, David M., Alizadeh, Behrooz Z., Boezen, H. Marike, Franke, Lude, van der Harst, Pim, N., G., Rots, Marianne G., S., H., Swertz, Morris, Wolffenbuttel, Bruce H.R., and Wijmenga, Cisca
Published: 2017
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20. A Multimetric Approach to Analysis of Genome-Wide Association by Single Markers and Composite Likelihood

Author: Gibson, Jane, Tapper, William, Cox, David, Zhang, Weihua, Pfeufer, Arne, Gieger, Christian, Wichmann, H.-Erich, Kääb, Stefan, Collins, Andrew R., Meitinger, Thomas, and Morton, Newton
Published: 2008
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21. The chromosome 9p21 region and myocardial infarction in a European population

Author: Koch, Werner, Türk, Serin, Erl, Anna, Hoppmann, Petra, Pfeufer, Arne, King, Lamin, Schömig, Albert, and Kastrati, Adnan
Published: 2011
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22. Lack of replication in polymorphisms reported to be associated with atrial fibrillation

Author: Sinner, Moritz F., Lubitz, Steven A., Pfeufer, Arne, Makino, Seiko, Beckmann, Britt-Maria, Lunetta, Kathryn L., Steinbeck, Gerhard, Perz, Siegfried, Rahman, Rosanna, Sonni, Akshata, Greenberg, Steven M., Furie, Karen L., Wichmann, H.-Erich, Meitinger, Thomas, Peters, Annette, Benjamin, Emelia J., Rosand, Jonathan, Ellinor, Patrick T., and Kääb, Stefan
Published: 2011
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23. A Global In Vivo Drosophila RNAi Screen Identifies NOT3 as a Conserved Regulator of Heart Function

Author: Neely, G. Gregory, Kuba, Keiji, Cammarato, Anthony, Isobe, Kazuya, Amann, Sabine, Zhang, Liyong, Murata, Mitsushige, Elmén, Lisa, Gupta, Vaijayanti, Arora, Suchir, Sarangi, Rinku, Dan, Debasis, Fujisawa, Susumu, Usami, Takako, Xia, Cui-ping, Keene, Alex C., Alayari, Nakissa N., Yamakawa, Hiroyuki, Elling, Ulrich, Berger, Christian, Novatchkova, Maria, Koglgruber, Rubina, Fukuda, Keiichi, Nishina, Hiroshi, Isobe, Mitsuaki, Pospisilik, J. Andrew, Imai, Yumiko, Pfeufer, Arne, Hicks, Andrew A., Pramstaller, Peter P., Subramaniam, Sai, Kimura, Akinori, Ocorr, Karen, Bodmer, Rolf, and Penninger, Josef M.
Published: 2010
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24. Usefulness of Short-Term Variability of QT Intervals as a Predictor for Electrical Remodeling and Proarrhythmia in Patients With Nonischemic Heart Failure

Author: Hinterseer, Martin, Beckmann, Britt-Maria, Thomsen, Morten B., Pfeufer, Arne, Ulbrich, Michael, Sinner, Moritz F., Perz, Siegfried, Wichmann, H.-Erich, Lengyel, Csaba, Schimpf, Rainer, Maier, Sebastian K.G., Varró, András, Vos, Marc A., Steinbeck, Gerhard, and Kääb, Stefan
Published: 2010
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25. Relation of Increased Short-Term Variability of QT Interval to Congenital Long-QT Syndrome

Author: Hinterseer, Martin, Beckmann, Britt-Maria, Thomsen, Morten B., Pfeufer, Arne, Dalla Pozza, Robert, Loeff, Markus, Netz, Heinrich, Steinbeck, Gerhard, Vos, Marc A., and Kääb, Stefan
Published: 2009
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26. A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

Author: Meder, Benjamin, Rühle, Frank, Weis, Tanja, Homuth, Georg, Keller, Andreas, Franke, Jennifer, Peil, Barbara, Lorenzo Bermejo, Justo, Frese, Karen, Huge, Andreas, Witten, Anika, Vogel, Britta, Haas, Jan, Völker, Uwe, Ernst, Florian, Teumer, Alexander, Ehlermann, Philipp, Zugck, Christian, Friedrichs, Frauke, Kroemer, Heyo, Dörr, Marcus, Hoffmann, Wolfgang, Maisch, Bernhard, Pankuweit, Sabine, Ruppert, Volker, Scheffold, Thomas, Kühl, Uwe, Schultheiss, Hans-Peter, Kreutz, Reinhold, Ertl, Georg, Angermann, Christiane, Charron, Philippe, Villard, Eric, Gary, Françoise, Isnard, Richard, Komajda, Michel, Lutz, Matthias, Meitinger, Thomas, Sinner, Moritz F., Wichmann, H.-Erich, Krawczak, Michael, Ivandic, Boris, Weichenhan, Dieter, Gelbrich, Goetz, El-Mokhtari, Nour-Eddine, Schreiber, Stefan, Felix, Stephan B., Hasenfu, Gerd, Pfeufer, Arne, Hübner, Norbert, Kääb, Stefan, Arbustini, Eloisa, Rottbauer, Wolfgang, Frey, Norbert, Stoll, Monika, and Katus, Hugo A.
Published: 2014
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27. Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

Author: Watanabe, Hiroshi, Koopmann, Tamara T., Le Scouarnec, Solena, Yang, Tao, Ingram, Christiana R., Schott, Jean-Jacques, Demolombe, Sophie, Probst, Vincent, Anselme, Frederic, Escande, Denis, Wiesfeld, Ans C.P., Pfeufer, Arne, Kaab, Stefan, Wichmann, H.-Erich, Hasdemir, Can, Aizawa, Yoshifusa, Wilde, Arthur A.M., Roden, Dan M., and Bezzina, Connie R.
Subjects: Diagnosis, Complications and side effects, Research, Risk factors, Arrhythmia -- Risk factors -- Diagnosis -- Research -- Complications and side effects, Gene mutation -- Complications and side effects -- Research, Long QT syndrome -- Risk factors -- Diagnosis -- Research -- Complications and side effects, Gene mutations -- Complications and side effects -- Research
Abstract: Introduction Voltage-gated sodium channels are critical for the generation and propagation of the cardiac action potential, and mutations in SCN5A, the gene encoding the major pore-forming sodium channel α subunit [...], Brugada syndrome is a genetic disease associated with sudden cardiac death that is characterized by ventricular fibrillation and right precordial ST segment elevation on ECG. Loss-of-function mutations in SCN5A, which encodes the predominant cardiac sodium channel α subunit [Na.sub.V]1.5, can cause Brugada syndrome and cardiac conduction disease. However, SCN5A mutations are not detected in the majority of patients with these syndromes, suggesting that other genes can cause or modify presentation of these disorders. Here, we investigated SCN1B, which encodes the function-modifying sodium channel β1 subunit, in 282 probands with Brugada syndrome and in 44 patients with conduction disease, none of whom had SCN5A mutations. We identified 3 mutations segregating with arrhythmia in 3 kindreds. Two of these mutations were located in a newly described alternately processed transcript, β1B. Both the canonical and alternately processed transcripts were expressed in the human heart and were expressed to a greater degree in Purkinje fibers than in heart muscle, consistent with the clinical presentation of conduction disease. Sodium current was lower when [Na.sub.V]1.5 was coexpressed with mutant β1 or β1B subunits than when it was coexpressed with WT subunits. These findings implicate SCN1B as a disease gene for human arrhythmia susceptibility.
Published: 2008

28. Metabolite Shifts Induced by Marathon Race Competition Differ between Athletes Based on Level of Fitness and Performance: A Substudy of the Enzy-MagIC Study

Author: Schader, Jana F, Haid, Mark, Cecil, Alexander, Schoenfeld, Julia, Halle, Martin, Pfeufer, Arne, Prehn, Cornelia, Adamski, Jerzy, Nieman, David C, Scherr, Johannes, University of Zurich, and Schader, Jana F
Subjects: amino acids, 1303 Biochemistry, exercise, lcsh:QR1-502, 610 Medicine & health, Metabolism, Biomarker, Exercise, Amino Acids, Fatty Acids, Urea Cycle, fatty acids, Article, lcsh:Microbiology, 2712 Endocrinology, Diabetes and Metabolism, 1312 Molecular Biology, urea cycle, biomarker, 10046 Balgrist University Hospital, Swiss Spinal Cord Injury Center, human activities, metabolism
Abstract: This study compared metabolite shifts induced by training for, participation in, and recovery from a marathon race competition among athletes divided into three groups based on fitness (relative maximum oxygen uptake (VO2max)) and performance levels (net running time). Plasma samples from 76 male runners participating in the Munich Marathon were analyzed for metabolite shifts using a targeted metabolomics panel. For the entire cohort of runners, pronounced increases were measured immediately after the race for plasma concentrations of acylcarnitines (AC), the ratio (palmitoylcarnitine + stearoylcarnitine)/free carnitine that is used as a proxy for the activity of the mitochondrial enzyme carnitine palmitoyltransferase, and arginine-related metabolites, with decreases in most amino acids (AA) and phospholipids. Plasma levels of AA and phospholipids were strongly increased 24 and 72 h post-race. Post-race plasma concentrations of AC and arginine-related metabolites were higher in the low compared to top performers, indicating an accumulation of fatty acids and a reliance on protein catabolism to provide energy after the marathon event. This study showed that marathon race competition is associated with an extensive and prolonged perturbation in plasma metabolite concentrations with a strong AC signature that is greater in the slower, less aerobically fit runners. Furthermore, changes in the arginine-related metabolites were observed.
Published: 2020

29. Functional profiling of human atrial and ventricular gene expression

Author: Barth, Andreas S., Merk, Sylvia, Arnoldi, Elisabeth, Zwermann, Ludwig, Kloos, Patrick, Gebauer, Mathias, Steinmeyer, Klaus, Bleich, Markus, Kääb, Stefan, Pfeufer, Arne, Überfuhr, Peter, Dugas, Martin, Steinbeck, Gerhard, and Nabauer, Michael
Published: 2005
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30. The intron 6 G/T polymorphism of c-myb oncogene and the risk for coronary in-stent restenosis

Author: Gross, C. Michael, Krämer, Jochen, Pfeufer, Arne, Dietz, Rainer, Geßner, Reinhard, and Praus, Michael
Published: 2004
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31. Global gene expression in human myocardium—oligonucleotide microarray analysis of regional diversity and transcriptional regulation in heart failure

Author: Kääb, Stefan, Barth, Andreas S., Margerie, Daniel, Dugas, Martin, Gebauer, Mathias, Zwermann, Ludwig, Merk, Sylvia, Pfeufer, Arne, Steinmeyer, Klaus, Bleich, Markus, Kreuzer, Eckart, Steinbeck, Gerhard, and Näbauer, Michael
Published: 2004
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32. Linkage disequilibrium patterns and tagSNP transferability among European populations

Author: Mueller, Jakob C., Lohmussaar, Elin, Magi, Reedik, Remm, Maido, Bettecken, Thomas, Lichtner, Peter, Biskup, Saskia, Illig, Thomas, Pfeufer, Arne, Luedemann, Jan, Schreiber, Stefan, Pramstaller, Peter, Pichler, Irene, Romeo, Giovanni, Gaddi, Anthony, Testa, Alessandra, Wichmann, Heinz-Erich, Metspalu, Andres, and Meitinger, Thomas
Subjects: Genomes -- Research, Genetics -- Research, Biological sciences
Published: 2005

33. Genome-wide association analysis identifies multiple loci related to resting heart rate

Author: Eijgelsheim, Mark, Newton-Cheh, Christopher, Sotoodehnia, Nona, de Bakker, Paul I.W., Müller, Martina, Morrison, Alanna C., Smith, Albert V., Isaacs, Aaron, Sanna, Serena, Dörr, Marcus, Navarro, Pau, Fuchsberger, Christian, Nolte, Ilja M., de Geus, Eco J.C., Estrada, Karol, Hwang, Shih-Jen, Bis, Joshua C., Rückert, Ina-Maria, Alonso, Alvaro, Launer, Lenore J., Hottenga, Jouke Jan, Rivadeneira, Fernando, Noseworthy, Peter A., Rice, Kenneth M., Perz, Siegfried, Arking, Dan E., Spector, Tim D., Kors, Jan A., Aulchenko, Yurii S., Tarasov, Kirill V., Homuth, Georg, Wild, Sarah H., Marroni, Fabio, Gieger, Christian, Licht, Carmilla M., Prineas, Ronald J., Hofman, Albert, Rotter, Jerome I., Hicks, Andrew A., Ernst, Florian, Najjar, Samer S., Wright, Alan F., Peters, Annette, Fox, Ervin R., Oostra, Ben A., Kroemer, Heyo K., Couper, David, Völzke, Henry, Campbell, Harry, Meitinger, Thomas, Uda, Manuela, Witteman, Jacqueline C.M., Psaty, Bruce M., Wichmann, H-Erich, Harris, Tamara B., Kääb, Stefan, Siscovick, David S., Jamshidi, Yalda, Uitterlinden, André G., Folsom, Aaron R., Larson, Martin G., Wilson, James F., Penninx, Brenda W., Snieder, Harold, Pramstaller, Peter P., van Duijn, Cornelia M., Lakatta, Edward G., Felix, Stephan B., Gudnason, Vilmundur, Pfeufer, Arne, Heckbert, Susan R., Stricker, Bruno H.Ch., Boerwinkle, Eric, and OʼDonnell, Christopher J.
Published: 2010
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34. Spontaneous Brugada electrocardiogram patterns are rare in the German general population: results from the KORA study

Author: Sinner, Moritz F., Pfeufer, Arne, Perz, Siegfried, Schulze-Bahr, Eric, Mönnig, Gerold, Eckardt, Lars, Beckmann, Britt-Maria, Wichmann, H-Erich, Breithardt, Günter, Steinbeck, Gerhard, Fabritz, Larissa, Kääb, Stefan, and Kirchhof, Paulus
Published: 2009

35. Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?

Author: Petrášek, Jan, Hubáček, Jaroslav A., Stickel, Felix, Šperl, Jan, Berg, Thomas, Ruf, Esther, Wichmann, H.-Erich, Pfeufer, Arne, Meitinger, Thomas, Trunečka, Pavel, Špičák, Julius, and Jirsa, Milan
Published: 2009
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36. Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation

Author: Kääb, Stefan, Darbar, Dawood, van Noord, Charlotte, Dupuis, Josée, Pfeufer, Arne, Newton-Cheh, Christopher, Schnabel, Renate, Makino, Seiko, Sinner, Moritz F., Kannankeril, Prince J., Beckmann, Britt M., Choudry, Subbarao, Donahue, Brian S., Heeringa, Jan, Perz, Siegfried, Lunetta, Kathryn L., Larson, Martin G., Levy, Daniel, MacRae, Calum A., Ruskin, Jeremy N., Wacker, Annette, Schömig, Albert, Wichmann, H-Erich, Steinbeck, Gerhard, Meitinger, Thomas, Uitterlinden, André G., Witteman, Jacqueline C.M., Roden, Dan M., Benjamin, Emelia J., and Ellinor, Patrick T.
Published: 2009

37. The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG)

Author: Sinner, Moritz F., Pfeufer, Arne, Akyol, Mahmut, Beckmann, Britt-Maria, Hinterseer, Martin, Wacker, Annette, Perz, Siegfried, Sauter, Wiebke, Illig, Thomas, Näbauer, Michael, Schmitt, Claus, Wichmann, H.-Erich, Schömig, Albert, Steinbeck, Gerhard, Meitinger, Thomas, and Kääb, Stefan
Published: 2008

38. Beat-to-beat variability of QT intervals is increased in patients with drug-induced long-QT syndrome: a case control pilot study

Author: Hinterseer, Martin, Thomsen, Morten B., Beckmann, Britt-Maria, Pfeufer, Arne, Schimpf, Rainer, Wichmann, H.-Erich, Steinbeck, Gerhard, Vos, Marc A., and Kaab, Stefan
Published: 2008

39. Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans

Author: Koch, Werner, Hoppmann, Petra, Michou, Elena, Jung, Vanessa, Pfeufer, Arne, Mueller, Jakob C., Gieger, Christian, Wichmann, H.-Erich, Meitinger, Thomas, Schömig, Albert, and Kastrati, Adnan
Published: 2007

40. The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study

Author: Akyol, Mahmut, Jalilzadeh, Shapour, Sinner, Moritz F., Perz, Siegfried, Beckmann, Britt M., Gieger, Christian, Illig, Thomas, Wichmann, H.-Erich, Meitinger, Thomas, Kääb, Stefan, and Pfeufer, Arne
Published: 2007

41. Toll-like receptor 4 gene polymorphisms and myocardial infarction: no association in a Caucasian population

Author: Koch, Werner, Hoppmann, Petra, Pfeufer, Arne, Schömig, Albert, and Kastrati, Adnan
Published: 2006

42. Metabolite Shifts Induced by Marathon Race Competition Differ between Athletes Based on Level of Fitness and Performance: A Substudy of the Enzy-MagIC Study

Author: Schader, Jana F; https://orcid.org/0000-0002-5755-7278, Haid, Mark; https://orcid.org/0000-0001-6118-1333, Cecil, Alexander, Schoenfeld, Julia, Halle, Martin, Pfeufer, Arne, Prehn, Cornelia, Adamski, Jerzy, Nieman, David C; https://orcid.org/0000-0002-8305-1860, Scherr, Johannes, Schader, Jana F; https://orcid.org/0000-0002-5755-7278, Haid, Mark; https://orcid.org/0000-0001-6118-1333, Cecil, Alexander, Schoenfeld, Julia, Halle, Martin, Pfeufer, Arne, Prehn, Cornelia, Adamski, Jerzy, Nieman, David C; https://orcid.org/0000-0002-8305-1860, and Scherr, Johannes
Abstract: This study compared metabolite shifts induced by training for, participation in, and recovery from a marathon race competition among athletes divided into three groups based on fitness (relative maximum oxygen uptake (VO2max)) and performance levels (net running time). Plasma samples from 76 male runners participating in the Munich Marathon were analyzed for metabolite shifts using a targeted metabolomics panel. For the entire cohort of runners, pronounced increases were measured immediately after the race for plasma concentrations of acylcarnitines (AC), the ratio (palmitoylcarnitine + stearoylcarnitine)/free carnitine that is used as a proxy for the activity of the mitochondrial enzyme carnitine palmitoyltransferase, and arginine-related metabolites, with decreases in most amino acids (AA) and phospholipids. Plasma levels of AA and phospholipids were strongly increased 24 and 72 h post-race. Post-race plasma concentrations of AC and arginine-related metabolites were higher in the low compared to top performers, indicating an accumulation of fatty acids and a reliance on protein catabolism to provide energy after the marathon event. This study showed that marathon race competition is associated with an extensive and prolonged perturbation in plasma metabolite concentrations with a strong AC signature that is greater in the slower, less aerobically fit runners. Furthermore, changes in the arginine-related metabolites were observed.
Published: 2020

43. Apolipoprotein E gene polymorphisms and thrombosis and restenosis after coronary artery stenting

Author: Koch, Werner, Mehilli, Julinda, Pfeufer, Arne, Schömig, Albert, and Kastrati, Adnan
Published: 2004
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44. TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6

Author: Koch, Werner, Hoppmann, Petra, Michou, Elena, Jung, Vanessa, Pfeufer, Arne, Müller, Jakob, Meitinger, Thomas, Schömig, Albert, and Kastrati, Adnan
Published: 2005

45. Functional implications of polymorphisms of endothelial nitric oxide synthase gene

Author: Koch, Werner, Gorchakova, Olga, von Beckerath, Nicolas, Kastrati, Adnan, and Pfeufer, Arne
Published: 2004

46. Congenital Central Hypothyroidism due to Homozygous Thyrotropin β 313ΔT Mutation Is Caused by a Founder Effect

Author: Brumm, Harald, Pfeufer, Arne, Biebermann, Heike, Schnabel, Dirk, Deiss, Dorothee, and Grüters, Annette
Published: 2002

47. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

Author: Demirkan, Ayşe, Van Duijn, Cornelia M, Ugocsai, Peter, Isaacs, Aaron, Pramstaller, Peter P, Liebisch, Gerhard, Wilson, James F, Johansson, Åsa, Rudan, Igor, Aulchenko, Yurii S, Kirichenko, Anatoly V, Janssens, A Cecile JW, Jansen, Ritsert C, Gnewuch, Carsten, Domingues, Francisco S, Pattaro, Cristian, Wild, Sarah H, Jonasson, Inger, Polasek, Ozren, Zorkoltseva, Irina V, Hofman, Albert, Karssen, Lennart C, Struchalin, Maksim, Floyd, James, Igl, Wilmar, Biloglav, Zrinka, Broer, Linda, Pfeufer, Arne, Pichler, Irene, Campbell, Susan, Zaboli, Ghazal, Kolcic, Ivana, Rivadeneira, Fernando, Huffman, Jennifer, Hastie, Nicholas D, Uitterlinden, Andre, Franke, Lude, Franklin, Christopher S, Vitart, Veronique, DIAGRAM Consortium, Nelson, Christopher P, Preuss, Michael, CARDIoGRAM Consortium, Bis, Joshua C, O'Donnell, Christopher J, Franceschini, Nora, CHARGE Consortium, Witteman, Jacqueline CM, Axenovich, Tatiana, Oostra, Ben A, Meitinger, Thomas, Hicks, Andrew A, Hayward, Caroline, Wright, Alan F, Gyllensten, Ulf, Campbell, Harry, Schmitz, Gerd, and EUROSPAN Consortium
Subjects: Sphingolipids, Delta-5 Fatty Acid Desaturase, Diabetes Mellitus, Type 2, Genetic Loci, Genome, Human, Databases, Genetic, Humans, lipids (amino acids, peptides, and proteins), Carotid Intima-Media Thickness, Polymorphism, Single Nucleotide, Phospholipids, White People, Genome-Wide Association Study
Abstract: Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034) on plasma levels of 24 sphingomyelins (SPM), 9 ceramides (CER), 57 phosphatidylcholines (PC), 20 lysophosphatidylcholines (LPC), 27 phosphatidylethanolamines (PE), and 16 PE-based plasmalogens (PLPE), as well as their proportions in each major class. This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88×10(-204)) and 10 loci for sphingolipids (smallest P-value = 3.10×10(-57)). After a correction for multiple comparisons (P-value
Published: 2018
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48. VarWatch—A stand-alone software tool for variant matching

Author: Fredrich, Broder, primary, Schmöhl, Marcus, additional, Junge, Olaf, additional, Gundlach, Sven, additional, Ellinghaus, David, additional, Pfeufer, Arne, additional, Bettecken, Thomas, additional, Siddiqui, Roman, additional, Franke, Andre, additional, Wienker, Thomas F., additional, Hoeppner, Marc P., additional, and Krawczak, Michael, additional
Published: 2019
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49. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Author: Wain, Louise V., Verwoert, Germaine C., O'Reilly, Paul F., Shi, Gang, Johnson, Toby, Johnson, Andrew D., Bochud, Murielle, Rice, Kenneth M., Henneman, Peter, Smith, Albert V., Ehret, Georg B., Amin, Najaf, Larson, Martin G., Mooser, Vincent, Hadley, David, Dörr, Marcus, Bis, Joshua C, Aspelund, Thor, Esko, Tõnu, Janssens, A Cecile J. W., Zhao, Jing Hua, Heath, Simon, Laan, Maris, Fu, Jingyuan, Pistis, Giorgio, Luan, Jian'An, Arora, Pankaj, Lucas, Gavin, Pirastu, Nicola, Pichler, Irene, Jackson, Anne U., Webster, Rebecca J., Zhang, Feng, Peden, John F., Schmidt, Helena, Tanaka, Toshiko, Campbell, Harry, Igl, Wilmar, Milaneschi, Yuri, Hottenga, Jouke-Jan, Vitart, Veronique, Chasman, Daniel I., Trompet, Stella, Bragg-Gresham, Jennifer L., Alizadeh, Behrooz Z., Chambers, John C., Guo, Xiuqing, Lehtimäki, Terho, Kühnel, Brigitte, Lopez, Lorna M., Polašek, Ozren, Boban, Mladen, Nelson, Christopher P., Morrison, Alanna C., Pihur, Vasyl, Ganesh, Santhi K., Hofman, Albert, Kundu, Suman, Mattace-Raso, Francesco U. S., Rivadeneira, Fernando, Sijbrands, Eric J. G., Uitterlinden, Andre G., Hwang, Shih-Jen, Vasan, Ramachandran S., Wang, Thomas J., Bergmann, Sven, Vollenweider, Peter, Waeber, Gérard, Laitinen, Jaana, Pouta, Anneli, Zitting, Paavo, McArdle, Wendy L., Kroemer, Heyo K., Völker, Uwe, Völzke, Henry, Glazer, Nicole L., Taylor, Kent D., Harris, Tamara B., Alavere, Helene, Haller, Toomas, Keis, Aime, Tammesoo, Mari-Liis, Aulchenko, Yurii, Barroso, In S., Khaw, Kay-Tee, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Eyheramendy, Susana, Org, Elin, Sõber, Siim, Lu, Xiaowen, Nolte, Ilja M., Penninx, Brenda W., Corre, Tanguy, Masciullo, Corrado, Sala, Cinzia, Groop, Leif, Voight, Benjamin F, Melander, Olle, O'Donnell, Christopher J, Salomaa, Veikko, D'Adamo, Adamo Pio, Fabretto, Antonella, Faletra, Flavio, Ulivi, Sheila, Del Greco M, Fabiola, Facheris, Maurizio, Collins, Francis S., Bergman, Richard N., Beilby, John P., Hung, Joseph, Musk, A William, Mangino, Massimo, Shin, So-Youn, Soranzo, Nicole, Watkins, Hugh, Goel, Anuj, Hamsten, Anders, Gider, Pierre, Loitfelder, Marisa, Zeginigg, Marion, Hernandez, Dena, Najjar, Samer S., Navarro, Pau, Wild, Sarah H., Corsi, Anna Maria, Singleton, Andrew, De Geus, Eco J. C., Willemsen, Gonneke, Parker, Alex N., Rose, Lynda M., Buckley, Brendan, Stott, David, Orru, Marco, Uda, Manuela, Van Der Klauw, Melanie M., Zhang, Weihua, Li, Xinzhong, Scott, James, Chen, Yii-Der Ida, Burke, Gregory L, Kähönen, Mika, Viikari, Jorma, Döring, Angela, Meitinger, Thomas, Davies, Gail, Starr, John M., Emilsson, Valur, Plump, Andrew, Lindeman, Jan H., Hoen, Peter A. C. T., König, Inke R., Felix, Janine F., Clarke, Robert, Hopewell, Jemma C., Ongen, Halit, Breteler, Monique, Debette, Stéphanie, Destefano, Anita L., Fornage, Myriam, Mitchell, Gary F., Smith, Nicholas L., Holm, Hilma, Stefansson, Kari, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Samani, Nilesh J., Preuss, Michael, Rudan, Igor, Hayward, Caroline, Deary, Ian J., Wichmann, H-Erich, Raitakari, Olli T., Palmas, Walter, Kooner, Jaspal S., Stolk, Ronald P., Jukema, J Wouter, Wright, Alan F., Boomsma, Dorret I., Bandinelli, Stefania, Gyllensten, Ulf B., Wilson, James F., Ferrucci, Luigi, Schmidt, Reinhold, Farrall, Martin, Spector, Tim D., Palmer, Lyle J., Tuomilehto, Jaakko, Pfeufer, Arne, Gasparini, Paolo, Siscovick, David, Altshuler, David, Loos, Ruth J. F., Toniolo, Daniela, Snieder, Harold, Gieger, Christian, Meneton, Pierre, Wareham, Nicholas J., Oostra, Ben A., Metspalu, Andres, Launer, Lenore, Rettig, Rainer, Strachan, David P., Beckmann, Jacques S., Witteman, Jacqueline C. M., Erdmann, Jeanette, Van Dijk, Ko Willems, Boerwinkle, Eric, Boehnke, Michael, Ridker, Paul M., Jarvelin, Marjo-Riitta, Chakravarti, Aravinda, Abecasis, Goncalo R., Gudnason, Vilmundur, Newton-Cheh, Christopher, Levy, Daniel, Munroe, Patricia B., Psaty, Bruce M., Caulfield, Mark J., Rao, Dabeeru C., Tobin, Martin D., Elliott, Paul, Van Duijn, Cornelia M. McEniery CM, Wilkinson IB, Cockcroft JR, O'Shaughnessy KM, Newhouse SJ, Yasmin, Smith AV, Eiriksdottir G, Launer LJ, Sigurdsson S, Aspelund T, Gudnason V, De Bacquer D, Rietzschel ER, De Backer GG, Van Bortel L, De Buyzere ML, Segers P, Bekaert S, Gillebert TC, De Meyer T, Ferrucci L, Tanaka T, Johnson AD, Levy D, Benjamin EJ, Mitchell GF, Vita JA, Larson MG, Hamburg NM, Vasan RS, Isaacs A, Schut AF, Oostra BA, van Duijn CM, van Rijn MJ, Sie MP, Newman AB, Herrington DM, Andrews JS, Ding J, Sutton-Tyrrell KC, Harris TB, Howard TD, Liu Y, Parsa A, Shuldiner AR, McArdle PF, Gibson Q, Post WS, Dehghan A, Hofman A, Uitterlinden AG, Sijbrands EJ, Rivadeneira F, Mattace-Raso FU, Verwoert GC, Witteman JC, Scuteri A, Lakatta EG, Jewell E, Abecasis GR, Tarasov KV, Uda M, Najjar SS, Sanna S, Attwood T, Belz S, Braund P, Cambien F, Cooper J, Crisp-Hihn A, Deloukas P, Foad N, Eardman J, Goodall AH, Gracey J, Gray E, Gulde S, Gwilliams R, Heimerl S, Hengstenberg C, Jolley J, Krishnan U, Linsel-Nitschke P, Lloyd-Jones H, Lugauer I, Lundmark P, Maouche S, Moore JS, Muir D, Murray E, Nelson CP, Neudert J, Niblett D, O'Leary K, Ouwehand WH, Pollard H, Rankin A, Rice CM, Sager H, Samani NJ, Sambrook J, Schmitz G, Scholz M, Schroeder L, Schunkert H, Syvannen AC, Wallace C, Kathiresan S, Reilly MP, Erdmann J, Assimes TL, Boerwinkle E, Hall A, König IR, Laaksonen R, McPherson R, Thompson JR, Thorsteinsdottir U, Ziegler A, Absher D, Chen L, Cupples LA, Halperin E, Li M, Musunuru K, Preuss M, Schillert A, Thorleifsson G, Voight BF, Wells GA, Assime TL, Holm H, Roberts R, Stewart AF, Fortmann S, Go A, Hlatky M, Iribarren C, Knowles J, Myers R, Quertermous T, Sidney S, Risch N, Tang H, Blankenberg S, Zeller T, Wild P, Schnabel R, Sinning C, Lackner K, Tiret L, Nicaud V, Bickel C, Rupprecht HJ, Perret C, Proust C, Münzel T, Barbalic M, Bis J, Chen IY, Cupples L, Demissie-Banjaw S, Folsom A, Glazer N, Harris T, Heckbert S, Lumley T, Marciante K, Morrison A, O' Donnell CJ, Psaty BM, Rice K, Rotter JI, Siscovick DS, Smith N, Smith A, Taylor KD, van Duijn C, Volcik K, Whitteman J, Ramachandran V, Uitterlinden A, Gretarsdottir S, Gulcher JR, Kong A, Stefansson K, Thorgeirsson G, Andersen K, Fischer M, Grosshennig A, Lieb W, Stark K, Schreiber S, Wichmann HE, Aherrahrou Z, Bruse P, Doering A, Illig T, Klopp N, Loley C, Medack A, Meisinger C, Meitinger T, Nahrstedt J, Peters A, Wagner AK, Willenborg C, Böhm BO, Dobnig H, Grammer TB, Hoffmann MM, Kleber M, März W, Meinitzer A, Winkelmann BR, Pilz S, Renner W, Scharnagl H, Stojakovic T, Tomaschitz A, Winkler K, Guiducci C, Burtt N, Gabriel SB, O'Donnell CJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Dandona S, Jarinova O, Qu L, Wilensky R, Matthai W, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Knouff CW, Waterworth DM, Walker MC, Mooser V, Epstein SE, Rader DJ, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Hall AS, Smith NL, Felix JF, Morrison AC, Demissie S, Glazer NL, Loehr LR, Rosamond WD, Bis JC, Folsom AR, Benjamin E, Aulchenko YS, Haritunians T, Couper D, Murabito J, Yang YA, Stricker BH, Gottdiener JS, Chang PP, Wang TJ, Rice KM, Heckbert SR, Fox ER, Willerson JT, Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Gao X, Yang Q, O'Connell JR, Schmidt H, Ketkar S, Hwang SJ, Teumer A, Paré G, Atkinson EJ, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Rampersaud E, Mitchell BD, Arking DE, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Siscovick D, Zillikens MC, Feitosa M, Province M, de Andrade M, Turner ST, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Coresh J, Schmidt R, Shlipak MG, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS, Felix SB, Watzinger N, Homuth G, Aragam J, Dörr M, Zweiker R, Lind L, Rodeheffer RJ, Greiser KH, Deckers JW, Stritzke J, Lackner KJ, Ingelsson E, Kullo I, Haerting J, Reffelmann T, Redfield MM, Werdan K, Arnett DK, Blettner M, Friedrich N, Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Munroe PB, Nordfors L, Penninx BW, Perucha E, Pouta A, Roderick PJ, Ruokonen A, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Ubink-Veltmaat LJ, Vollenweider P, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS., Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), University of Leicester, Department of Genetics [Leicester], Erasmus University Rotterdam, Netherlands Genomics Initiative, Department of Epidemiology and Biostatistics, School of Public Health, Zahedan University of Medical Sciences, Washington University in Saint Louis (WUSTL), Queen Mary University of London (QMUL), National Heart, Lung and Blood Institute, Partenaires INRAE, Centre Hospitalier Universitaire Vaudois (CHUV), Université de Lausanne = University of Lausanne (UNIL), Department of Biostatistics [Oslo], Institute of Basic Medical Sciences [Oslo], Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO)-Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Leiden University Medical Center (LUMC), Universiteit Leiden, Icelandic Heart Association, Heart Preventive Clinic and Research Institute, University of Iceland [Reykjavik], Johns Hopkins University, School of Medicine, Hôpitaux Universitaires de Genève (HUG), Department of Epidemiology, The Netherlands Cancer Institute, Department of Mathematics, Boston University [Boston] (BU), GlaxoSmithKline, Division of Community Health Sciences, St. George's, University of South Florida [Tampa] (USF), Universität Greifswald - University of Greifswald, University of Washington [Seattle], University of Tartu, Institute of Molecular and Cell Biology, Medical Research Council, Institut de Génomique, Centre National de Génotypage, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University Medical Center Groningen, Department of Genetics, University Medical Center Groningen [Groningen] (UMCG), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Massachusetts General Hospital [Boston], Centro de Regulación Genómica (CRG), Universitat Pompeu Fabra [Barcelona] (UPF), Università degli studi di Trieste = University of Trieste, Universität zu Lübeck = University of Lübeck [Lübeck], Department of Biostatistics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, The University of Western Australia (UWA), Department of Twin Research and Genetic Epidemiology, King's College London, London, University of Oxford, Medical University Graz, National Institute on Aging, Centre for population Health Sciences, University of Edinburgh, Uppsala University, Vrije Universiteit Amsterdam [Amsterdam] (VU), Western General Hospital, Harvard Medical School [Boston] (HMS), Brigham and Women's Hospital [Boston], University of Michigan System, University of Groningen, Ealing Hospital, School of Public Health - Department of Epidemiology and Biostatistics, Imperial College London, Medical Genetics Institute, Cedars-Sinai Medical Center, University of Tampere, German Research Center for Environmental Health - Helmholtz Center München (GmbH), Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Split, The University of Texas Health Science Center at Houston (UTHealth), Johns Hopkins University (JHU), Netherlands Consortium for Healthy Aging [Leiden, Netherlands] (NCHA), National Heart, Lung, and Blood Institute [Bethesda] (NHLBI), Swiss Institute of Bioinformatics [Lausanne] (SIB), Finnish Institute of Occupational Health, National Institute of Health and Welfare, University of Oulu, Lapland Central Hospital, University of Bristol [Bristol], Institute for Community Medicine, Unité de Recherche en Epidémiologie Nutritionnelle (UREN), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), US National Institutes of Health, National Heart, Lung, and Blood Institute, European, Epidemiology, Internal Medicine, Public Health, Clinical Genetics, Université de Lausanne (UNIL), LeidenUniversity Medical Centre, University of Iceland, Università degli studi di Trieste, Universität zu Lübeck [Lübeck], University of Western Australia, University of Oxford [Oxford], VU University Amsterdam, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut National de la Recherche Agronomique (INRA), Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), Human genetics, Psychiatry, EMGO - Mental health, NCA - Anxiety & Depression, Epidemiology and Data Science, Medical Research Council (MRC), Louise V., Wain, Germaine C., Verwoert, Paul F., O'Reilly, Gang, Shi, Toby, Johnson, Andrew D., Johnson, Murielle, Bochud, Kenneth M., Rice, Peter, Henneman, Albert V., Smith, Georg B., Ehret, Najaf, Amin, Martin G., Larson, Vincent, Mooser, David, Hadley, Marcus, Dörr, Joshua C., Bi, Thor, Aspelund, Tõnu, Esko, A. Cecile J. W., Janssen, Jing Hua, Zhao, Simon, Heath, Maris, Laan, Jingyuan, Fu, Giorgio, Pisti, Jian'An, Luan, Pankaj, Arora, Gavin, Luca, Pirastu, Nicola, Irene, Pichler, Anne U., Jackson, Rebecca J., Webster, Feng, Zhang, John F., Peden, Helena, Schmidt, Toshiko, Tanaka, Harry, Campbell, Wilmar, Igl, Yuri, Milaneschi, Jouke Jan, Hottenga, Veronique, Vitart, Daniel I., Chasman, Stella, Trompet, Jennifer L., Bragg Gresham, Behrooz Z., Alizadeh, John C., Chamber, Xiuqing, Guo, Terho, Lehtimäki, Brigitte, Kühnel, Lorna M., Lopez, Ozren, Polašek, Mladen, Boban, Christopher P., Nelson, Alanna C., Morrison, Vasyl, Pihur, Santhi K., Ganesh, Albert, Hofman, Suman, Kundu, Francesco U. S., Mattace Raso, Fernando, Rivadeneira, Eric J. G., Sijbrand, Andre G., Uitterlinden, Shih Jen, Hwang, Ramachandran S., Vasan, Thomas J., Wang, Sven, Bergmann, Peter, Vollenweider, Gérard, Waeber, Jaana, Laitinen, Anneli, Pouta, Paavo, Zitting, Wendy L., Mcardle, Heyo K., Kroemer, Uwe, Völker, Henry, Völzke, Nicole L., Glazer, Kent D., Taylor, Tamara B., Harri, Helene, Alavere, Toomas, Haller, Aime, Kei, Mari Liis, Tammesoo, Yurii, Aulchenko, Inês, Barroso, Kay Tee, Khaw, Pilar, Galan, Serge, Hercberg, Mark, Lathrop, Susana, Eyheramendy, Elin, Org, Siim, Sõber, Xiaowen, Lu, Ilja M., Nolte, Brenda W., Penninx, Tanguy, Corre, Corrado, Masciullo, Cinzia, Sala, Leif, Groop, Benjamin F., Voight, Olle, Melander, Christopher J., O'Donnell, Veikko, Salomaa, D'Adamo, ADAMO PIO, Antonella, Fabretto, Flavio, Faletra, Sheila, Ulivi, Fabiola Del Greco, M, Maurizio, Facheri, Francis S., Collin, Richard N., Bergman, John P., Beilby, Joseph, Hung, A., William Musk, Massimo, Mangino, So Youn, Shin, Nicole, Soranzo, Hugh, Watkin, Anuj, Goel, Anders, Hamsten, Pierre, Gider, Marisa, Loitfelder, Marion, Zeginigg, Dena, Hernandez, Samer S., Najjar, Pau, Navarro, Sarah H., Wild, Anna Maria, Corsi, Andrew, Singleton, Eco J. C., de Geu, Gonneke, Willemsen, Alex N., Parker, Lynda M., Rose, Brendan, Buckley, David, Stott, Marco, Orru, Manuela, Uda, Melanie M., van der Klauw, Weihua, Zhang, Xinzhong, Li, James, Scott, Yii Der Ida, Chen, Gregory L., Burke, Mika, Kähönen, Jorma, Viikari, Angela, Döring, Thomas, Meitinger, Gail, Davie, John M., Starr, Valur, Emilsson, Andrew, Plump, Jan H., Lindeman, Peter A. C., 't Hoen, Inke R., König, Janine F., Felix, Robert, Clarke, Jemma C., Hopewell, Halit, Ongen, Monique, Breteler, Stéphanie, Debette, Anita L., Destefano, Myriam, Fornage, Gary F., Mitchell, Nicholas L., Smith, Hilma, Holm, Kari, Stefansson, Gudmar, Thorleifsson, Unnur, Thorsteinsdottir, Nilesh J., Samani, Michael, Preu, Igor, Rudan, Caroline, Hayward, Ian J., Deary, H., Erich Wichmann, Olli T., Raitakari, Walter, Palma, Jaspal S., Kooner, Ronald P., Stolk, J., Wouter Jukema, Alan F., Wright, Dorret I., Boomsma, Stefania, Bandinelli, Ulf B., Gyllensten, James F., Wilson, Luigi, Ferrucci, Reinhold, Schmidt, Martin, Farrall, Tim D., Spector, Lyle J., Palmer, Jaakko, Tuomilehto, Arne, Pfeufer, Gasparini, Paolo, David, Siscovick, David, Altshuler, Ruth J. F., Loo, Daniela, Toniolo, Harold, Snieder, Christian, Gieger, Pierre, Meneton, Nicholas J., Wareham, Ben A., Oostra, Andres, Metspalu, Lenore, Launer, Rainer, Rettig, David P., Strachan, Jacques S., Beckmann, Jacqueline C. M., Witteman, Jeanette, Erdmann, Ko Willems van, Dijk, Eric, Boerwinkle, Michael, Boehnke, Paul M., Ridker, Marjo Riitta, Jarvelin, Aravinda, Chakravarti, Goncalo R., Abecasi, Vilmundur, Gudnason, Christopher Newton, Cheh, Daniel, Levy, Patricia B., Munroe, Bruce M., Psaty, Mark J., Caulfield, Dabeeru C., Rao, Martin D., Tobin, Paul, Elliott, Cornelia M., van Duijn, Biological Psychology, Neuroscience Campus Amsterdam - Anxiety & Depression, EMGO+ - Mental Health, Wain, Louise V., Verwoert, Germaine C., O'Reilly, Paul F., Shi, Gang, Johnson, Toby, Johnson, Andrew D., Bochud, Murielle, Rice, Kenneth M., Henneman, Peter, Smith, Albert V., Ehret, Georg B., Amin, Najaf, Larson, Martin G., Mooser, Vincent, Hadley, David, Dörr, Marcu, Bis, Joshua C, Aspelund, Thor, Esko, Tõnu, Janssens, A Cecile J. W., Zhao, Jing Hua, Heath, Simon, Laan, Mari, Fu, Jingyuan, Pistis, Giorgio, Luan, Jian'An, Arora, Pankaj, Lucas, Gavin, Pichler, Irene, Jackson, Anne U., Webster, Rebecca J., Zhang, Feng, Peden, John F., Schmidt, Helena, Tanaka, Toshiko, Campbell, Harry, Igl, Wilmar, Milaneschi, Yuri, Hottenga, Jouke-Jan, Vitart, Veronique, Chasman, Daniel I., Trompet, Stella, Bragg-Gresham, Jennifer L., Alizadeh, Behrooz Z., Chambers, John C., Guo, Xiuqing, Lehtimäki, Terho, Kühnel, Brigitte, Lopez, Lorna M., Polašek, Ozren, Boban, Mladen, Nelson, Christopher P., Morrison, Alanna C., Pihur, Vasyl, Ganesh, Santhi K., Hofman, Albert, Kundu, Suman, Mattace-Raso, Francesco U. S., Rivadeneira, Fernando, Sijbrands, Eric J. G., Uitterlinden, Andre G., Hwang, Shih-Jen, Vasan, Ramachandran S., Wang, Thomas J., Bergmann, Sven, Vollenweider, Peter, Waeber, Gérard, Laitinen, Jaana, Pouta, Anneli, Zitting, Paavo, Mcardle, Wendy L., Kroemer, Heyo K., Völker, Uwe, Völzke, Henry, Glazer, Nicole L., Taylor, Kent D., Harris, Tamara B., Alavere, Helene, Haller, Tooma, Keis, Aime, Tammesoo, Mari-Lii, Aulchenko, Yurii, Barroso, In S., Khaw, Kay-Tee, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Eyheramendy, Susana, Org, Elin, Sõber, Siim, Lu, Xiaowen, Nolte, Ilja M., Penninx, Brenda W., Corre, Tanguy, Masciullo, Corrado, Sala, Cinzia, Groop, Leif, Voight, Benjamin F, Melander, Olle, O'Donnell, Christopher J, Salomaa, Veikko, D'Adamo, Adamo Pio, Fabretto, Antonella, Faletra, Flavio, Ulivi, Sheila, Del Greco M, Fabiola, Facheris, Maurizio, Collins, Francis S., Bergman, Richard N., Beilby, John P., Hung, Joseph, Musk, A William, Mangino, Massimo, Shin, So-Youn, Soranzo, Nicole, Watkins, Hugh, Goel, Anuj, Hamsten, Ander, Gider, Pierre, Loitfelder, Marisa, Zeginigg, Marion, Hernandez, Dena, Najjar, Samer S., Navarro, Pau, Wild, Sarah H., Corsi, Anna Maria, Singleton, Andrew, De Geus, Eco J. C., Willemsen, Gonneke, Parker, Alex N., Rose, Lynda M., Buckley, Brendan, Stott, David, Orru, Marco, Uda, Manuela, Van Der Klauw, Melanie M., Zhang, Weihua, Li, Xinzhong, Scott, Jame, Chen, Yii-Der Ida, Burke, Gregory L, Kähönen, Mika, Viikari, Jorma, Döring, Angela, Meitinger, Thoma, Davies, Gail, Starr, John M., Emilsson, Valur, Plump, Andrew, Lindeman, Jan H., Hoen, Peter A. C. T., König, Inke R., Felix, Janine F., Clarke, Robert, Hopewell, Jemma C., Ongen, Halit, Breteler, Monique, Debette, Stéphanie, Destefano, Anita L., Fornage, Myriam, Mitchell, Gary F., Smith, Nicholas L., Holm, Hilma, Stefansson, Kari, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Samani, Nilesh J., Preuss, Michael, Rudan, Igor, Hayward, Caroline, Deary, Ian J., Wichmann, H-Erich, Raitakari, Olli T., Palmas, Walter, Kooner, Jaspal S., Stolk, Ronald P., Jukema, J Wouter, Wright, Alan F., Boomsma, Dorret I., Bandinelli, Stefania, Gyllensten, Ulf B., Wilson, James F., Ferrucci, Luigi, Schmidt, Reinhold, Farrall, Martin, Spector, Tim D., Palmer, Lyle J., Tuomilehto, Jaakko, Pfeufer, Arne, Siscovick, David, Altshuler, David, Loos, Ruth J. F., Toniolo, Daniela, Snieder, Harold, Gieger, Christian, Meneton, Pierre, Wareham, Nicholas J., Oostra, Ben A., Metspalu, Andre, Launer, Lenore, Rettig, Rainer, Strachan, David P., Beckmann, Jacques S., Witteman, Jacqueline C. M., Erdmann, Jeanette, Van Dijk, Ko Willem, Boerwinkle, Eric, Boehnke, Michael, Ridker, Paul M., Jarvelin, Marjo-Riitta, Chakravarti, Aravinda, Abecasis, Goncalo R., Gudnason, Vilmundur, Newton-Cheh, Christopher, Levy, Daniel, Munroe, Patricia B., Psaty, Bruce M., Caulfield, Mark J., Rao, Dabeeru C., Tobin, Martin D., Elliott, Paul, Van, Duijn, Cornelia M., McEniery CM, Wilkinson, Ib, Cockcroft, Jr, O'Shaughnessy, Km, Newhouse, Sj, Yasmin, Smith, Av, Eiriksdottir, G, Launer, Lj, Sigurdsson, S, Aspelund, T, Gudnason, V, De Bacquer, D, Rietzschel, Er, De Backer, Gg, Van Bortel, L, De Buyzere, Ml, Segers, P, Bekaert, S, Gillebert, Tc, De Meyer, T, Ferrucci, L, Tanaka, T, Johnson, Ad, Levy, D, Benjamin, Ej, Mitchell, Gf, Vita, Ja, Larson, Mg, Hamburg, Nm, Vasan, R, Isaacs, A, Schut, Af, Oostra, Ba, van Duijn, Cm, van Rijn, Mj, Sie, Mp, Newman, Ab, Herrington, Dm, Andrews, J, Ding, J, Sutton-Tyrrell, Kc, Harris, Tb, Howard, Td, Liu, Y, Parsa, A, Shuldiner, Ar, Mcardle, Pf, Gibson, Q, Post, W, Dehghan, A, Hofman, A, Uitterlinden, Ag, Sijbrands, Ej, Rivadeneira, F, Mattace-Raso, Fu, Verwoert, Gc, Witteman, Jc, Scuteri, A, Lakatta, Eg, Jewell, E, Abecasis, Gr, Tarasov, Kv, Uda, M, Najjar, S, Sanna, S, Attwood, T, Belz, S, Braund, P, Cambien, F, Cooper, J, Crisp-Hihn, A, Deloukas, P, Foad, N, Eardman, J, Goodall, Ah, Gracey, J, Gray, E, Gulde, S, Gwilliams, R, Heimerl, S, Hengstenberg, C, Jolley, J, Krishnan, U, Linsel-Nitschke, P, Lloyd-Jones, H, Lugauer, I, Lundmark, P, Maouche, S, Moore, J, Muir, D, Murray, E, Nelson, Cp, Neudert, J, Niblett, D, O'Leary, K, Ouwehand, Wh, Pollard, H, Rankin, A, Rice, Cm, Sager, H, Samani, Nj, Sambrook, J, Schmitz, G, Scholz, M, Schroeder, L, Schunkert, H, Syvannen, Ac, Wallace, C, Kathiresan, S, Reilly, Mp, Erdmann, J, Assimes, Tl, Boerwinkle, E, Hall, A, König, Ir, Laaksonen, R, Mcpherson, R, Thompson, Jr, Thorsteinsdottir, U, Ziegler, A, Absher, D, Chen, L, Cupples, La, Halperin, E, Li, M, Musunuru, K, Preuss, M, Schillert, A, Thorleifsson, G, Voight, Bf, Wells, Ga, Assime, Tl, Holm, H, Roberts, R, Stewart, Af, Fortmann, S, Go, A, Hlatky, M, Iribarren, C, Knowles, J, Myers, R, Quertermous, T, Sidney, S, Risch, N, Tang, H, Blankenberg, S, Zeller, T, Wild, P, Schnabel, R, Sinning, C, Lackner, K, Tiret, L, Nicaud, V, Bickel, C, Rupprecht, Hj, Perret, C, Proust, C, Münzel, T, Barbalic, M, Bis, J, Chen, Iy, Cupples, L, Demissie-Banjaw, S, Folsom, A, Glazer, N, Harris, T, Heckbert, S, Lumley, T, Marciante, K, Morrison, A, O' Donnell, Cj, Psaty, Bm, Rice, K, Rotter, Ji, Siscovick, D, Smith, N, Smith, A, Taylor, Kd, van Duijn, C, Volcik, K, Whitteman, J, Ramachandran, V, Uitterlinden, A, Gretarsdottir, S, Gulcher, Jr, Kong, A, Stefansson, K, Thorgeirsson, G, Andersen, K, Fischer, M, Grosshennig, A, Lieb, W, Stark, K, Schreiber, S, Wichmann, He, Aherrahrou, Z, Bruse, P, Doering, A, Illig, T, Klopp, N, Loley, C, Medack, A, Meisinger, C, Meitinger, T, Nahrstedt, J, Peters, A, Wagner, Ak, Willenborg, C, Böhm, Bo, Dobnig, H, Grammer, Tb, Hoffmann, Mm, Kleber, M, März, W, Meinitzer, A, Winkelmann, Br, Pilz, S, Renner, W, Scharnagl, H, Stojakovic, T, Tomaschitz, A, Winkler, K, Guiducci, C, Burtt, N, Gabriel, Sb, O'Donnell, Cj, Elosua, R, Peltonen, L, Salomaa, V, Schwartz, Sm, Melander, O, Altshuler, D, Dandona, S, Jarinova, O, Qu, L, Wilensky, R, Matthai, W, Hakonarson, Hh, Devaney, J, Burnett, M, Pichard, Ad, Kent, Km, Satler, L, Lindsay, Jm, Waksman, R, Knouff, Cw, Waterworth, Dm, Walker, Mc, Mooser, V, Epstein, Se, Rader, Dj, Wright, Bj, Balmforth, Aj, Ball, Sg, Smith, Nl, Felix, Jf, Morrison, Ac, Demissie, S, Glazer, Nl, Loehr, Lr, Rosamond, Wd, Bis, Jc, Folsom, Ar, Benjamin, E, Aulchenko, Y, Haritunians, T, Couper, D, Murabito, J, Yang, Ya, Stricker, Bh, Gottdiener, J, Chang, Pp, Wang, Tj, Rice, Km, Heckbert, Sr, Fox, Er, Willerson, Jt, Köttgen, A, Pattaro, C, Böger, Ca, Fuchsberger, C, Olden, M, Gao, X, Yang, Q, O'Connell, Jr, Schmidt, H, Ketkar, S, Hwang, Sj, Teumer, A, Paré, G, Atkinson, Ej, Lohman, K, Cornelis, Mc, Probst-Hensch, Nm, Kronenberg, F, Tönjes, A, Hayward, C, Rampersaud, E, Mitchell, Bd, Arking, De, Struchalin, M, Cavalieri, M, Singleton, A, Giallauria, F, Metter, J, de Boer, Ih, Zillikens, Mc, Feitosa, M, Province, M, de Andrade, M, Turner, St, Schnabel, Rb, Wilde, S, Munzel, Tf, Leak, T, Koenig, W, Zgaga, L, Zemunik, T, Kolcic, I, Minelli, C, Hu, Fb, Johansson, A, Igl, W, Zaboli, G, Wild, Sh, Wright, Af, Campbell, H, Ellinghaus, D, Imboden, M, Nitsch, D, Brandstätter, A, Kollerits, B, Kedenko, L, Mägi, R, Stumvoll, M, Kovacs, P, Boban, M, Campbell, S, Endlich, K, Völzke, H, Kroemer, Hk, Nauck, M, Völker, U, Polasek, O, Vitart, V, Badola, S, Parker, An, Ridker, Pm, Kardia, Sl, Curhan, Gc, Franke, A, Rochat, T, Paulweber, B, Prokopenko, I, Wang, W, Coresh, J, Schmidt, R, Shlipak, Mg, Borecki, I, Krämer, Bk, Rudan, I, Gyllensten, U, Wilson, Jf, Pramstaller, Pp, Rettig, R, Hastie, N, Chasman, Di, Kao, Wh, Heid, Im, Fox, C, Felix, Sb, Watzinger, N, Homuth, G, 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Snieder, H, Soranzo, N, Spector, Td, Stenvinkel, P, Sternberg, Mj, Swaminathan, R, Ubink-Veltmaat, Lj, Vollenweider, P, Waterworth, D, Zerres, K, Waeber, G, Wareham, Nj, Maxwell, Ph, Mccarthy, Mi, Jarvelin, Mr, Lightstone, L, Scott, J, Navis, G, Elliott, P, and Kooner, Js.
Subjects: Netherlands Twin Register (NTR), Linkage disequilibrium, pulse pressure, mean arterial pressure, genome-wide, [SDV]Life Sciences [q-bio], Genome-wide association study, BLOOD-PRESSURE, Blood Pressure, 030204 cardiovascular system & hematology, Linkage Disequilibrium, 0302 clinical medicine, RELEVANCE, CardioGram, Medicine and Health Sciences, Genetics & Heredity, ddc:616, Genetics, 0303 health sciences, Genome-wide association, 11 Medical And Health Sciences, Arteries, ADRENERGIC-RECEPTOR TRAFFICKING, Pulse pressure, EchoGen consortium, Hypertension, HEART-FAILURE, arterial pressure, Case-Control Studie, Life Sciences & Biomedicine, Human, circulatory and respiratory physiology, medicine.medical_specialty, Mean arterial pressure, Arterie, AortaGen Consortium, Cardiogenics consortium, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, Follow-Up Studie, 03 medical and health sciences, Internal medicine, medicine, Humans, cardiovascular diseases, METAANALYSIS, 030304 developmental biology, Genetic association, Science & Technology, HYPERTENSION, MORTALITY, Case-control study, CARDIOVASCULAR-DISEASE RISK, 06 Biological Sciences, GENE, MICE, Endocrinology, Blood pressure, CKDGen consortium, Genetic Loci, Case-Control Studies, KidneyGen consortium, CHARGE Consortium Heart Failure Working Group, LifeLines Cohort Study, Developmental Biology, Follow-Up Studies, Genome-Wide Association Study
Abstract: Les affiliations des 100 premiers auteurs sont renseignées dans la notice. Les affiliations des autres auteurs sont disponibles à la fin de la publication.; International audience; Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans(1-3). We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 x 10(-8) to P = 2.3 x 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.
Published: 2016
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50. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Author: Wain, Louise V, Verwoert, Germaine C, O'Reilly, Paul F, Shi, Gang, Johnson, Toby, Johnson, Andrew D, Bochud, Murielle, Rice, Kenneth M, Henneman, Peter, Smith, Albert V, Ehret, Georg B, Amin, Najaf, Larson, Martin G, Mooser, Vincent, Hadley, David, Dörr, Marcus, Bis, Joshua C, Aspelund, Thor, Esko, Tõnu, Janssens, A Cecile JW, Zhao, Jing Hua, Heath, Simon, Laan, Maris, Fu, Jingyuan, Pistis, Giorgio, Luan, Jian'an, Arora, Pankaj, Lucas, Gavin, Pirastu, Nicola, Pichler, Irene, Jackson, Anne U, Webster, Rebecca J, Zhang, Feng, Peden, John F, Schmidt, Helena, Tanaka, Toshiko, Campbell, Harry, Igl, Wilmar, Milaneschi, Yuri, Hottenga, Jouke-Jan, Vitart, Veronique, Chasman, Daniel I, Trompet, Stella, Bragg-Gresham, Jennifer L, Alizadeh, Behrooz Z, Chambers, John C, Guo, Xiuqing, Lehtimäki, Terho, Kühnel, Brigitte, Lopez, Lorna M, Polašek, Ozren, Boban, Mladen, Nelson, Christopher P, Morrison, Alanna C, Pihur, Vasyl, Ganesh, Santhi K, Hofman, Albert, Kundu, Suman, Mattace-Raso, Francesco US, Rivadeneira, Fernando, Sijbrands, Eric JG, Uitterlinden, Andre G, Hwang, Shih-Jen, Vasan, Ramachandran S, Wang, Thomas J, Bergmann, Sven, Vollenweider, Peter, Waeber, Gérard, Laitinen, Jaana, Pouta, Anneli, Zitting, Paavo, McArdle, Wendy L, Kroemer, Heyo K, Völker, Uwe, Völzke, Henry, Glazer, Nicole L, Taylor, Kent D, Harris, Tamara B, Alavere, Helene, Haller, Toomas, Keis, Aime, Tammesoo, Mari-Liis, Aulchenko, Yurii, Barroso, Inês, Khaw, Kay-Tee, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Eyheramendy, Susana, Org, Elin, Sõber, Siim, Lu, Xiaowen, Nolte, Ilja M, Penninx, Brenda W, Corre, Tanguy, Masciullo, Corrado, Sala, Cinzia, Groop, Leif, Voight, Benjamin F, Melander, Olle, O'Donnell, Christopher J, Salomaa, Veikko, D'Adamo, Adamo Pio, Fabretto, Antonella, Faletra, Flavio, Ulivi, Sheila, Del Greco, Fabiola M, Facheris, Maurizio, Collins, Francis S, Bergman, Richard N, Beilby, John P, Hung, Joseph, Musk, A William, Mangino, Massimo, Shin, So-Youn, Soranzo, Nicole, Watkins, Hugh, Goel, Anuj, Hamsten, Anders, Gider, Pierre, Loitfelder, Marisa, Zeginigg, Marion, Hernandez, Dena, Najjar, Samer S, Navarro, Pau, Wild, Sarah H, Corsi, Anna Maria, Singleton, Andrew, De Geus, Eco JC, Willemsen, Gonneke, Parker, Alex N, Rose, Lynda M, Buckley, Brendan, Stott, David, Orru, Marco, Uda, Manuela, LifeLines Cohort Study, Van Der Klauw, Melanie M, Zhang, Weihua, Li, Xinzhong, Scott, James, Chen, Yii-Der Ida, Burke, Gregory L, Kähönen, Mika, Viikari, Jorma, Döring, Angela, Meitinger, Thomas, Davies, Gail, Starr, John M, Emilsson, Valur, Plump, Andrew, Lindeman, Jan H, Hoen, Peter AC 'T, König, Inke R, EchoGen Consortium, Felix, Janine F, Clarke, Robert, Hopewell, Jemma C, Ongen, Halit, Breteler, Monique, Debette, Stéphanie, Destefano, Anita L, Fornage, Myriam, AortaGen Consortium, Mitchell, Gary F, CHARGE Consortium Heart Failure Working Group, Smith, Nicholas L, KidneyGen Consortium, Holm, Hilma, Stefansson, Kari, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, CKDGen Consortium, Cardiogenics Consortium, CardioGram, Samani, Nilesh J, Preuss, Michael, Rudan, Igor, Hayward, Caroline, Deary, Ian J, Wichmann, H-Erich, Raitakari, Olli T, Palmas, Walter, Kooner, Jaspal S, Stolk, Ronald P, Jukema, J Wouter, Wright, Alan F, Boomsma, Dorret I, Bandinelli, Stefania, Gyllensten, Ulf B, Wilson, James F, Ferrucci, Luigi, Schmidt, Reinhold, Farrall, Martin, Spector, Tim D, Palmer, Lyle J, Tuomilehto, Jaakko, Pfeufer, Arne, Gasparini, Paolo, Siscovick, David, Altshuler, David, Loos, Ruth JF, Toniolo, Daniela, Snieder, Harold, Gieger, Christian, Meneton, Pierre, Wareham, Nicholas J, Oostra, Ben A, Metspalu, Andres, Launer, Lenore, Rettig, Rainer, Strachan, David P, Beckmann, Jacques S, Witteman, Jacqueline CM, Erdmann, Jeanette, Van Dijk, Ko Willems, Boerwinkle, Eric, Boehnke, Michael, Ridker, Paul M, Jarvelin, Marjo-Riitta, Chakravarti, Aravinda, Abecasis, Goncalo R, Gudnason, Vilmundur, Newton-Cheh, Christopher, Levy, Daniel, Munroe, Patricia B, Psaty, Bruce M, Caulfield, Mark J, Rao, Dabeeru C, Tobin, Martin D, Elliott, Paul, and Van Duijn, Cornelia M
Subjects: Genetic Loci, Case-Control Studies, Hypertension, Humans, Blood Pressure, cardiovascular diseases, Arteries, Polymorphism, Single Nucleotide, Linkage Disequilibrium, circulatory and respiratory physiology, Follow-Up Studies, Genome-Wide Association Study
Abstract: Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.
Published: 2018
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