Search

Your search keyword '"Inke König"' showing total 2 results
Start Over Author "Inke König" Topic 0302 clinical medicine
2 results on '"Inke König"'

1. The commercial genetic testing landscape for Parkinson's disease

Author

Lola Cook, Jeanine Schulze, Jennifer Verbrugge, James C. Beck, Karen S. Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N. Alcalay, Alexis Brice, Amasi Kumeh, Andrew B. West, Andrew Singleton, Birgitt Schüle, Brian Fiske, Carolin Gabbert, Connie Marras, Cornelis Blauwendraat, Courtney Thaxton, Dario Alessi, David Craig, Edward A. Fon, Emily Forbes, Enza Maria Valente, Esther Sammler, Gill Chao, Giulietta Riboldi, Houda Zghal Elloumi, Ignacio Mata, Jamie C. Fong, Jean-Christophe Corvol, Joshua Shulman, Judith Peterschmitt, Karen Marder, Katja Lohmann, Kelly Nudelman, Lara Lange, Mark R. Cookson, Martha Nance, Matthew Farrer, Melina Grigorian, Michael A. Schwarzschild, Niccolo Mencacci, Owen Ross, Pramod Mistry, Priscila Hodges, Rachel Blake, S. Pablo Sardi, Sali Farhan, Samuel Strom, Shalini Padmanabhan, Shruthi Mohan, Simonne Longerich, Susanne Schneider, Suzanne Lesage, Tanya Bardakjian, Tatiana Foroud, Thomas Courtin, Thomas Tropea, Yunlong Liu, Ziv Gan-Or, Ali S. Shalash, Anne Hall, Avner Thaler, Carolyn M. Sue, Deborah Mascalzoni, Deborah Raymond, Emilia Mabel Gatto, Gian D. Pal, Inke König, Ivana Novakovic, Marcelo Merello, Mehri Salari, Niccolo Emanuele Mencacci, Nobutaka Hattori, Oksana Suchowersky, Soraya Bardien, Sun Ju Chung, Tatyana Simuni, Timothy Lynch, Vincenzo Bonifati, and Clinical Genetics

Subjects
medicine.medical_specialty, Parkinson's disease, Genetic testing, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, Multi-gene panels, Genetic Predisposition to Disease, Genetic Testing, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, business.industry, Parkinsonism, PARK7, Neurosciences, Parkinson Disease, medicine.disease, LRRK2, Clinical laboratories, 3. Good health, Neurology, Atypical Parkinsonism, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Dystonic disorder, Laboratories, Clinical, Neurovetenskaper
Abstract

Introduction There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. Methods The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. Results We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. Conclusion There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD. Deborah Mascalzoni is part of Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease

Published
2021

2. Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits

Author

Benjamin Voight, Amelie Bonnefond, Mark Caulfield, Guillaume Pare, Manal Abdelmalek, Eleftheria Zeggini, Jeffrey Schwimmer, Anna Gloyn, Michael Preuss, Åsa Johansson, LAURA CRISPONI, Eco De Geus, Michael Weedon, Jeanne Clark, Joyce Van Meurs, Torben Jørgensen, Kirsi Pietiläinen, Nicole Glazer, Jaakko Kaprio, Alan Shuldiner, Braxton Mitchell, Patricia Munroe, Ozren Polasek, Elisabeth Thiering, Carla Vogel, Jennie Hui, ROBERTO ELOSUA, Amanda Bennett, Yurii Aulchenko, Michael Stumvoll, Andrew Hattersley, Alexander Doney, Peter P Pramstaller, Christian Dina, Lambertus Kiemeney, Sophie Visvikis-Siest, ANGELO SCUTERI, Udo Seedorf, Vilmundur Gudnason, Peter Kraft, Aroon Hingorani, Michael Marmot, Dale Nyholt, Mika Kivimaki, Mary Feitosa, Danielle Posthuma, Claudia Langenberg, Stavroula Kanoni, Mika Kähönen, David Hillman, Lachlan Coin, Eric Brunner, Terho Lehtimäki, Man Li, John Beilby, Peter Visscher, Anette P Gjesing, James Pankow, Ruben Hernaez, Taina Lajunen, Katja Aben, Daniel Witte, Willem Ouwehand, Eleanor Wheeler, Peter Kovacs, Debbie A Lawlor, Kevin Jacobs, Jianjun Liu, Joseph Massaro, Hana Lango Allen, Inga Prokopenko, Rafn Benediktsson, Philippe Froguel, Soumya Raychaudhuri, Cornelia Van Duijn, Annette Peters, Nita Forouhi, Chiara Lanzani, Tonu Esko, Ko Willems van Dijk, Sadaf Farooqi, John Carr, Reedik Mägi, David Melzer, Gerard Waeber, Sutapa Mukherjee, Lyle John Palmer, Francois Pattou, Claes Ohlsson, Perry Elliott, André Scherag, Inke König, Stephen O'rahilly, Thomas Meitinger, Michael Goddard, Lina Zgaga, Robert Weyant, Paul Elliott, Robert Luben, Albert Vernon Smith, MANUELA UDA, Avan Aihie Sayer, Richard Bergman, Gonneke Willemsen, Cecilia Lindgren, Olle Melander, Igor Rudan, Maris Teder-Laving, Hugh Watkins, Ulrich John, Epidemiology, Scherag, Andre (Beitragende*r), Hinney, Anke (Beitragende*r), Scherag, S. (Beitragende*r), Vogel, C. I. (Beitragende*r), Hebebrand, Johannes (Beitragende*r), Functional Genomics, Biological Psychology, Neuroscience Campus Amsterdam - integrative Analysis & Modeling, Neuroscience Campus Amsterdam - Attention & Cognition, EMGO+ - Mental Health, McCarthy, Mark I, Apollo - University of Cambridge Repository, Medical Research Council (MRC), Speliotes, Ek, YERGES ARMSTRONG, Lm, Wu, J, Hernaez, R, Kim, Lj, Palmer, Cd, Gudnason, V, Eiriksdottir, G, Garcia, Me, Launer, Lj, Nalls, Ma, Clark, Jm, Mitchell, Bd, Shuldiner, Ar, Butler, Jl, Tomas, M, Hoffmann, U, Hwang, Sj, Massaro, Jm, O'Donnell, Cj, Sahani, Dv, Salomaa, V, Schadt, Ee, Schwartz, Sm, Siscovick, D, Nash, Crn, Manunta, Paolo, Giant, Consortium, Magic, Investigator, Voight, Bf, Carr, Jj, Feitosa, Mf, Harris, Tb, Fox, C, Smith, Av, Kao, Wh, Hirschhorn, Jn, Borecki, Ib, Gold, Consortium, Hjelt Institute (-2014), Department of Public Health, Institute for Molecular Medicine Finland, Haartman Institute (-2014), Transplantation Laboratory, Genetic Epidemiology, O', Donnell, Cj, Giant, and Paolisso, Giuseppe

Subjects
Blood Glucose, Male, Netherlands Twin Register (NTR), Cancer Research, Medizin, Genome-wide association study, Hepatitis, Diabetes and Endocrinology/Obesity, Cohort Studies, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Lectins, Nonalcoholic fatty liver disease, 80 and over, Insulin, 2.1 Biological and endogenous factors, Aetiology, Tomography, Adaptor Proteins, Signal Transducing/genetics Adult Aged Aged, 80 and over Blood Glucose/analysis Case-Control Studies Chondroitin Sulfate Proteoglycans/genetics Cohort Studies Fatty Liver/*genetics/metabolism/radiography Genome-Wide Association Study Humans Insulin/blood Lectins, C-Type/genetics Lipase/genetics Male Membrane Proteins/genetics Middle Aged Mutation, Missense Nerve Tissue Proteins/genetics Polymorphism, Single Nucleotide Quantitative Trait Loci Tomography, X-Ray Computed, Genetics (clinical), Aged, 80 and over, Genetics, 0303 health sciences, education.field_of_study, Framingham Risk Score, C-Type, Liver Disease, Fatty liver, Adaptor Proteins, Single Nucleotide, Middle Aged, X-Ray Computed, 3. Good health, GOLD Consortium, 030211 gastroenterology & hepatology, Research Article, Adult, lcsh:QH426-470, Quantitative Trait Loci, Chronic Liver Disease and Cirrhosis, Mutation, Missense, genome-wide, fatty liver, metabolic, Nerve Tissue Proteins, Genetics and Genomics/Complex Traits, Biology, Polymorphism, Single Nucleotide, Gastroenterology and Hepatology/Hepatology, MAGIC Investigators, 03 medical and health sciences, Clinical Research, GIANT Consortium, medicine, Humans, Lectins, C-Type, Adiponutrin, NASH CRN, ddc:610, Polymorphism, education, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, 0604 Genetics, Genetic heterogeneity, Prevention, Human Genome, Signal Transducing, Membrane Proteins, Lipase, medicine.disease, 3141 Health care science, Fatty Liver, lcsh:Genetics, Chondroitin Sulfate Proteoglycans, Case-Control Studies, Mutation, Missense, Steatosis, Steatohepatitis, Tomography, X-Ray Computed, Digestive Diseases, Neurocan, Genome-Wide Association Study, Developmental Biology
Abstract

Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis of computed tomography (CT) measured hepatic steatosis, a non-invasive measure of NAFLD, in large population based samples. Using variance components methods, we show that CT hepatic steatosis is heritable (∼26%–27%) in family-based Amish, Family Heart, and Framingham Heart Studies (n = 880 to 3,070). By carrying out a fixed-effects meta-analysis of genome-wide association (GWA) results between CT hepatic steatosis and ∼2.4 million imputed or genotyped SNPs in 7,176 individuals from the Old Order Amish, Age, Gene/Environment Susceptibility-Reykjavik study (AGES), Family Heart, and Framingham Heart Studies, we identify variants associated at genome-wide significant levels (p, Author Summary NAFLD is a spectrum of disease that ranges from steatosis to steatohepatitis (nonalcoholic steatohepatitis or NASH: inflammation around the fat) to fibrosis/cirrhosis. Hepatic steatosis can be measured non-invasively using computed tomography (CT) whereas NASH/fibrosis is assessed histologically. The genetic underpinnings of NAFLD remain to be determined. Here we estimate that 26%–27% of the variation in CT measured hepatic steatosis is heritable or genetic. We identify three variants near PNPLAL3, NCAN, and PPP1R3B that associate with CT hepatic steatosis and show that variants in or near NCAN, GCKR, LYPLAL1, and PNPLA3, but not PPP1R3B, associate with histologic lobular inflammation/fibrosis. Variants in or near NCAN, GCKR, and PPP1R3B associate with altered serum lipid levels, whereas those in or near LYPLAL1 and PNPLA3 do not. Variants near GCKR and PPP1R3B also affect glycemic traits. Thus, we show that NAFLD is genetically influenced and expand the number of common genetic variants that associate with this trait. Our findings suggest that development of hepatic steatosis, NASH/fibrosis, or abnormalities in metabolic traits are probably influenced by different metabolic pathways that may represent distinct therapeutic targets.

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results