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12 p, 1.3 MB |
Gene-level association analysis of systemic sclerosis : A comparison of African-Americans and White populations
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Gorlova, Olga Y. (Dartmouth College) ;
Li, Yafang (Dartmouth College) ;
Gorlov, Ivan (Dartmouth College) ;
Ying, Jun (University of Texas McGovern Medical School) ;
Chen, Wei V. (UT MD Anderson Cancer Center) ;
Assassi, Shervin (University of Texas McGovern Medical School) ;
Reveille, John D. (University of Texas McGovern Medical School) ;
Arnett, Frank C. (University of Texas McGovern Medical School) ;
Zhou, Xiaodong (University of Texas McGovern Medical School) ;
Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ;
Lopez-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ;
Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research) ;
Lee, Annette T. (Robert S. Feinstein Institute for Medical Research) ;
Steen, Virginia D. (Georgetown University Medical Center) ;
Fessler, Barri J. (University of Alabama-Birmingham) ;
Khanna, Dinesh (University of Michigan) ;
Schiopu, Elena (University of Michigan) ;
Silver, Richard M. (Medical University of South Carolina) ;
Molitor, Jerry A. (University of Minnesota) ;
Furst, Daniel E. (University of Florence) ;
Kafaja, Suzanne (University of California-Los Angeles) ;
Simms, Robert W. (Boston University) ;
Lafyatis, Robert A. (University of Pittsburgh) ;
Carreira, Patricia E (Hospital Universitario de Madrid) ;
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ;
Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ;
Beltran, Emma (Hospital Universitari i Politècnic La Fe (València)) ;
Ortego, Norberto (University Hospital San Cecilio) ;
Amos, Christopher I. (Dartmouth College) ;
Martin, Javier (Institute of Parasitology and Biomedicine López-Neyra. IPBLN-CSIC) ;
Mayes, Maureen D. (University of Texas McGovern Medical School) ;
Universitat Autònoma de Barcelona
Gene-level analysis of ImmunoChip or genome-wide association studies (GWAS) data has not been previously reported for systemic sclerosis (SSc, scleroderma). The objective of this study was to analyze genetic susceptibility loci in SSc at the gene level and to determine if the detected associations were shared in African-American and White populations, using data from ImmunoChip and GWAS genotyping studies. [...]
2018 -  10.1371/journal.pone.0189498
PloS one, Vol. 13 Núm. 1 (january 2018) , p. e0189498
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17 p, 1.3 MB |
Genome-wide association study of circulating interleukin 6 levels identifies novel loci
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Ahluwalia, Tarunveer Singh (University of Copenhagen) ;
Prins, Bram Peter (University of Groningen) ;
Abdollahi, Mohammadreza (University of Groningen) ;
Armstrong, Nicola (Murdoch University) ;
Aslibekyan, Stella (University of Alabama at Birmingham School of Public Health) ;
Bain, Lisa J (Qimr Berghofer Medical Research Institute) ;
Jefferis, Barbara (University College London) ;
Baumert, Jens (Helmholtz Zentrum München-German Research Center for Environmental Health) ;
Beekman, Marian (Leiden University Medical Center) ;
Ben-Shlomo, Yoav (University of Bristol) ;
Bis, Joshua C (University of Washington) ;
Mitchell, Braxton D. (University of Maryland School of Medicine) ;
de Geus, Eco J. C (Amsterdam UMC. University Medical Center) ;
Delgado, Graciela E. (University of Heidelberg) ;
Marek, Diana (Sib Swiss Institute of Bioinformatics) ;
Eriksson, Joel (University of Gothenburg) ;
Kajantie, Eero (Helsinki University Central Hospital and University of Helsinki) ;
Kanoni, Stavroula (Queen Mary University of London) ;
Kemp, John P. (University of Bristol) ;
Lu, Chen (Boston University School of Public Health) ;
Marioni, Riccardo E. (University of Edinburgh) ;
McLachlan, Stela (University of Edinburgh) ;
Milaneschi, Yuri (Amsterdam Umc. Vrije Universiteit) ;
Nolte, Ilja M. (University of Groningen) ;
Petrelis, Alexandros M. (Université de Lorraine) ;
Porcu, Eleonora (Consiglio Nazionale Delle Ricerche) ;
Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ;
Naderi, Elnaz (University of Groningen) ;
Seppälä, Ilkka (Tampere University) ;
Shah, Tina (University College London) ;
Singhal, Gaurav (University of Adelaide) ;
Standl, Marie (Helmholtz Zentrum München-German Research Center for Environmental Health) ;
Teumer, Alexander (University Medicine Greifswald) ;
Thalamuthu, Anbupalam (University of New South Wales) ;
Thiering, Elisabeth (Ludwig-Maximilians-University of Munich. Dr. von Hauner Children's Hospital) ;
Trompet, Stella (Leiden University Medical Center) ;
Ballantyne, Christie M. (Baylor College of Medicine) ;
Benjamin, Emelia J. (Boston University School of Medicine) ;
Casas, Juan P. (Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Va Boston Healthcare System) ;
Toben, Catherine (University of Adelaide) ;
Dedoussis, George (Harokopio University) ;
Deelen, Joris (Max Planck Institute for Biology of Ageing) ;
Durda, Peter (Larner College of Medicine. University of Vermont) ;
Engmann, Jorgen (University College London) ;
Feitosa, Mary (Washington University School of Medicine) ;
Grallert, Harald (German Center for Diabetes Research (DZD)) ;
Hammarstedt, Ann (Sahlgrenska Academy at the University of Gothenburg) ;
Harris, Sarah E (University of Edinburgh) ;
Homuth, Georg (University Medicine Greifswald) ;
Hottenga, Jouke Jan (Amsterdam UMC. University Medical Center) ;
Jalkanen, Sirpa (University of Turku) ;
Jamshidi, Yalda (St George's University of London) ;
Jawahar, Magdalene C. (University of Adelaide) ;
Jess, Tine (Statens Serum Institute) ;
Kivimaki, Mika (University College London) ;
Kleber, Marcus E. (University of Heidelberg) ;
Lahti, Jari (University of Helsinki) ;
Liu, Yongmei (Wake Forest School of Medicine) ;
Marques-Vidal, Pedro (University of Lausanne) ;
Mellström, Dan (Sahlgrenska Academy at the University of Gothenburg. Centre for Bone and Arthritis Research) ;
Mooijaart, Simon P. (Leiden University Medical Center) ;
Müller-Nurasyid, Martina (Johhanes Gutenberg University) ;
Penninx, Brenda WJH (Amsterdam Umc. Vrije Universiteit) ;
Revez, Joana A. (Qimr Berghofer Medical Research Institute) ;
Rossing, Peter (University of Copenhagen) ;
Raïkkönen, Katri (University of Helsinki) ;
Sattar, Naveed (Bhf Glasgow Cardiovascular Research Centre) ;
Scharnagl, Hubert (Medical University of Graz) ;
Sennblad, Bengt (Uppsala University) ;
Silveira, Angela (Karolinska Institutet (Estocolm, Suècia)) ;
Pourcain, Beate St (Radboud University) ;
Timpson, Nicholas J. (University of Bristol) ;
Trollor, Julian (University of New South Wales) ;
Van Dongen, Jenny (Amsterdam UMC. University Medical Center) ;
Van Heemst, Diana (Baylor College of Medicine) ;
Visvikis-Siest, Sophie (Université de Lorraine. Inserm. IGE-PCV) ;
Vollenweider, Peter (University of Lausanne) ;
Völker, Uwe (University of Turku) ;
Waldenberger, Melanie (Helmholtz Zentrum München-German Research Center for Environmental Health) ;
Willemsen, Gonneke (Amsterdam UMC. University Medical Center) ;
Zabaneh, Delilah (University College London Genetics Institute) ;
Morris, Richard W. (Bristol Medical School. University of Bristol) ;
Arnett, Donna K. (University of Kentucky) ;
Baune, Bernhard T. (University of Melbourne) ;
Boomsma, Dorret I. (Amsterdam UMC. University Medical Center) ;
Chang, Yen-Pei C. (University of Maryland School of Medicine) ;
Deary, Ian J. (University of Edinburgh) ;
Deloukas, Panos (Queen Mary University of London) ;
Eriksson, Johan G. (University of Helsinki) ;
Evans, David M. (University of Bristol) ;
Ferreira, Manuel A. (Qimr Berghofer Medical Research Institute) ;
Gaunt, Tom (University of Bristol) ;
Gudnason, Vilmundur (University of Iceland) ;
Hamsten, Anders (Karolinska Institutet (Estocolm, Suècia)) ;
Heinrich, Joachim (University of Melbourne) ;
Hingorani, Aroon (University College London) ;
Humphries, Steve E. (University College London) ;
Jukema, J. Wouter (Durrer Center for Cardiogenetic Research) ;
Koenig, Wolfgang (University of Ulm) ;
Kumari, Meena (University of Essex) ;
Kutalik, Zoltan (University of Lausanne) ;
Lawlor, Deborah A. (University of Bristol) ;
Lehtimäki, Terho (Tampere University) ;
März, Winfried (Synlab Academy. Synalb Holding Deutschland GmbH) ;
Mather, Karen A (Neuroscience Research Australia) ;
Naitza, Silvia. (Consiglio Nazionale Delle Ricerche) ;
Nauck, Matthias (Dzhk (German Center for Cardiovascular Research). Partner Site Greifswald) ;
Ohlsson, Claes (University of Gothenburg) ;
Price, Jackie F. (University of Edinburgh) ;
Raitakari, Olli (Turku University Hospital (Finlàndia)) ;
Rice, Ken (University of Washington) ;
Sachdev, Perminder S. (Prince of Wales Hospital (Australia)) ;
Slagboom, Pieternella Eline (Max Planck Institute for Biology of Ageing) ;
Sørensen, Thorkild I.A. (University of Copenhagen. Department of Public Health. Section on Epidemiology) ;
Spector, Tim (King's College London. Department of Twin Research and Genetic Epidemiology) ;
Stacey, David (University of Cambridge) ;
Stathopoulou, Maria G. (Université de Lorraine. Inserm. IGE-PCV) ;
Tanaka, Toshiko (National Institute on Aging (Estats Units d'Amèrica)) ;
Wannamethee, Sasiwarang Goya (University College London) ;
Whincup, Peter (University of London) ;
Rotter, Jerome I. (The Lundquist Institute at Harbor-UCLA Medical Center) ;
Dehghan, Abbas (Erasmus Mc) ;
Boerwinkle, Eric (Baylor College of Medicine) ;
Psaty, Bruce M. (University of Washington) ;
Snieder, Harold (University Medical Center Groningen) ;
Alizadeh, Behrooz Ziad (University Medical Center Groningen)
Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. [...]
2021 - 10.1093/hmg/ddab023
Human Molecular Genetics, Vol. 30 Núm. 5 (january 2021) , p. 393-409
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12 p, 544.9 KB |
Association of Apolipoprotein e with Intracerebral Hemorrhage Risk by Race/Ethnicity : A Meta-analysis
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Marini, Sandro (Massachusetts General Hospital (Boston)) ;
Crawford, Katherine (Massachusetts General Hospital (Boston)) ;
Morotti, A. (Fondazione Mondino IRCCS, Pavia) ;
Lee, M. J. (Massachusetts General Hospital (Boston)) ;
Pezzini, Alessandro (Università degli Studi di Brescia) ;
Moomaw, C. J. (University of Cincinnati) ;
Flaherty, M. L. (University of Cincinnati) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Jimenez Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cuadrado-Godia, Elisa (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Soriano Tarraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Slowik, A. (Jagiellonian University Medical College, Kraków) ;
Jagiella, Jeremiasz M (Jagiellonian University Medical College, Kraków) ;
Pera, J. (Jagiellonian University Medical College, Kraków) ;
Urbanik, Andrzej (Jagiellonian University Medical College, Kraków) ;
Pichler, A. (Jagiellonian University Medical College, Kraków) ;
Hansen, Björn M (Lund University) ;
McCauley, J. L. (John P. Hussman Institute for Human Genomics, Miami) ;
Tirschwell, D. L. (University of Washington) ;
Selim, Magdy (Beth Israel Deaconess Medical Center, Boston) ;
Brown, D. L. (University of Michigan) ;
Silliman, Scott L. (University of Florida College of Medicine) ;
Worrall, B. B. (University of Virginia Health System) ;
Meschia, J. F. (Mayo Clinic, Jacksonville, Florida) ;
Kidwell, C. S. (University of Arizona) ;
Testai, F. D. (University of Illinois) ;
Kittner, S. J. (University of Maryland School of Medicine) ;
Schmidt, H. (Medical University of Graz) ;
Enzinger, C. (Medical University of Graz) ;
Deary, Ian J. (University of Edinburgh) ;
Rannikmae, K. (University of Edinburgh) ;
Samarasekera, N. (University of Edinburgh) ;
Salman, R. A. S. (University of Edinburgh) ;
Sudlow, C. L. (University of Edinburgh) ;
Klijn, C. J. M. (UMC Utrecht Brain Center Rudolf Magnus) ;
Van Nieuwenhuizen, K. M. (UMC Utrecht Brain Center Rudolf Magnus) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Norrving, B. (Lund University) ;
Lindgren, A. (Lund University) ;
Goldstein, J. N. (Massachusetts General Hospital (Boston)) ;
Viswanathan, Anand (Massachusetts General Hospital (Boston)) ;
Greenberg, S. M. (Massachusetts General Hospital (Boston)) ;
Falcone, G. J. (Yale University) ;
Biffi, Alessandro (Massachusetts General Hospital (Boston)) ;
Langefeld, Carl D (Wake Forest University, Winston-Salem, North Carolina) ;
Woo, D. (University of Cincinnati College of Medicine) ;
Rosand, J. (Massachusetts General Hospital (Boston)) ;
Anderson, C. D. (Massachusetts General Hospital (Boston)) ;
Universitat Autònoma de Barcelona
Importance: Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. [...]
2019 - 10.1001/jamaneurol.2018.4519
JAMA Neurology, Vol. 76 Núm. 4 (april 2019) , p. 480-491
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14 p, 2.6 MB |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
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Olive, Montse (Institut d'Investigació Biomèdica de Bellvitge) ;
Engvall, Martin (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Ravenscroft, Gianina (University of Western Australia. Harry Perkins Institute of Medical Research) ;
Cabrera-Serrano, Macarena (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jiao, Hong (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Bortolotti, Carlo Augusto (University of Modena and Reggio Emilia) ;
Pignataro, Marcello (University of Modena and Reggio Emilia) ;
Lambrughi, Matteo (University of Modena and Reggio Emilia) ;
Jiang, Haibo (The University of Western Australia) ;
Forrest, Alistair R. R. (University of Western Australia. Harry Perkins Institute of Medical Research) ;
Benseny Cases, Núria (ALBA Laboratori de Llum de Sincrotró) ;
Hofbauer, Stefan (BOKU-University of Natural Resources and Life Sciences) ;
Obinger, Christian (BOKU-University of Natural Resources and Life Sciences) ;
Battistuzzi, Gianantonio (University of Modena and Reggio Emilia) ;
Bellei, Marzia (University of Modena and Reggio Emilia) ;
Borsari, Marco (University of Modena and Reggio Emilia) ;
Di Rocco, Giulia (University of Modena and Reggio Emilia) ;
Viola, Helena M. (The University of Western Australia) ;
Hool, Livia C. (Victor Chang Cardiac Research Institute) ;
Cladera i Cerdà, Josep (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Lagerstedt-Robinson, Kristina (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Xiang, Fengqing (Karolinska Institutet (Estocolm, Suècia)) ;
Wredenberg, Anna (Karolinska Institutet (Estocolm, Suècia)) ;
Miralles, Francesc (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Baiges, Juanjo (Hospital de Tortosa Verge de la Cinta) ;
Malfatti, Edoardo (Centre de Référence de Pathologie Neuromusculaire Paris-Est) ;
Romero, Norma B. (Centre de Référence de Pathologie Neuromusculaire Paris-Est) ;
Streichenberger, Nathalie (Université Claude Bernard Lyon) ;
Vial, Christophe (Electromyographie-Groupement Hospitalier Est) ;
Claeys, Kristl G. (KU Leuven-University of Leuven) ;
Straathof, Chiara S. M. (Leiden University Medical Center) ;
Goris, An (KU Leuven-University of Leuven) ;
Freyer, Christoph (Karolinska Institutet (Estocolm, Suècia)) ;
Lammens, Martin (Radboud University Medical Center) ;
Bassez, Guillaume (East-Paris University (UPEC)) ;
Kere, Juha (King's College London) ;
Clemente, Paula (Karolinska Institutet (Estocolm, Suècia)) ;
Sejersen, Thomas (Karolinska Institutet (Estocolm, Suècia)) ;
Udd, Bjarne (Tampere University Hospital) ;
Vidal, Noemí (Institut d'Investigació Biomèdica de Bellvitge) ;
Ferrer, Isidro (Universitat de Barcelona) ;
Edström, Lars (Karolinska Institutet (Estocolm, Suècia)) ;
Wedell, Anna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Laing, Nigel G. (University of Western Australia. Harry Perkins Institute of Medical Research)
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. [...]
2019 - 10.1038/s41467-019-09111-2
Nature communications, Vol. 10 (March 2019) , art. 1396
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