Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Autor: Bénédicte Dubois, Lucia Corrado, Deborah F. Mason, Allan G. Kermode, Pentti J. Tienari, Annette Bang Oturai, Charles Hillier, Adrian J. Ivinson, Stephen L. Hauser, Ashley Beecham, Jeannette Lechner-Scott, Vincent Thijs, Jonathan L. Haines, Sarah Edkins, Alexander T. Dilthey, Daniele Cusi, Guy Nagels, David A. Hafler, Mark Slee, Petra Nilsson, James S. Wiley, Lou Brundin, Amy Strange, Elizabeth Visser, Mireia Sospedra, Athena Hadjixenofontos, Sergio E. Baranzini, Jenny Link, Robert Andrews, Viola Biberacher, Helle Bach Søndergaard, Vittorio Martinelli, Tomas Olsson, Gillian L Hall, Stephen Sawcer, Stacy J. Caillier, Per Soelberg Sørensen, Céline Bellenguez, Cornelia M. van Duijn, Frauke Zipp, Nikolaos A. Patsopoulos, Cristin McCabe, Colin Freeman, Simon Broadley, Luisa Bernardinelli, Margaret A. Pericak-Vance, Jan Hillert, Wassila Carpentier, Sandip Shaunak, Anne Spurkland, Barnaby Fiddes, Judith Field, Jan Lycke, Christina M. Lill, Federica Esposito, Ioanna Konidari, Elisabeth Gulowsen Celius, Christian Gieger, Helmut Butzkueven, Ling Shen, James F. Wilson, Magdalena Lindén, Tejas S. Shah, Amie Baker, Dionysia K. Xifara, Hong Quach, Laura Bergamaschi, Rogier Q. Hintzen, Jacob L. McCauley, Janna Saarela, J W Thorpe, Christine Lebrun-Frenay, Felix Luessi, Sandra D'Alfonso, B. E. Kendall, Helga Westerlind, Giancarlo Comi, Nathalie Schnetz-Boutaud, Paola Brambilla, Chris Cotsapas, Anders Hamsten, William Camu, Achim Berthele, Kjell-Morten Myhr, Clive Hawkins, Richard Nicholas, James Harley, Carl A. Anderson, Keijo Koivisto, Irene Coman, Neil Robertson, Hakon Hakonarson, Finn Sellebjerg, Fredrik Piehl, Alessia Di Sapio, Loukas Moutsianas, Mehdi Alizadeh, Lars Alfredsson, Catherine Schaefer, David Rog, Virpi Leppa, C. Martin, Bruce A.C. Cree, Christopher Halfpenny, Irina Elovaara, Filippo Martinelli-Boneschi, Cordelia Langford, Hanne F. Harbo, Wim Robberecht, Isabelle Cournu-Rebeix, Steve Vucic, Izaura Lima Bomfim, Irene Y. Frohlich, Michelle Lee, Bertrand Fontaine, Bernhard Hemmer, Eva Zindler, Chris C. A. Spencer, Malin Larsson, Simon Shields, Ilijas Jelcic, Juliane Winkelmann, Jorge R. Oksenberg, Alastair Wilkins, Silvia Delgado, Volker Siffrin, Helena C. Kronsbein, Bruno Brochet, Panos Deloukas, Daniela Galimberti, Nikos Evangelou, Rebecca C. Selter, Maja Jagodic, Martin Duddy, Timothy Harrower, Per Hall, Nadia Barizzone, Siân Price, Matti Pirinen, Pierre-Antoine Gourraud, Thomas M.C. Binder, Giuseppe Liberatore, Mark Lathrop, M.-M. Hoshi, Garrett Hellenthal, Melissa Sorosina, Thomas Korn, Clara Guaschino, Roland Martin, Jeremy Hobart, Marco Salvetti, Peter Donnelly, Ingrid Kockum, An Goris, Alastair Compston, Mariaemma Rodegher, Dorothea Buck, Clara P. Manrique, Christiane Graetz, Benedicte A. Lie, Trevor J. Kilpatrick, Andrew Graham, Anu Kemppinen, Maria Ban, Gil McVean, John Zajicek, Hannah Blackburn, Mary F. Davis, Emilie Sundqvist, Bruce V. Taylor, Maurizio Leone, Lisa F. Barcellos, Fabio Macciardi, Gilles Defer, Vincent Damotte, Satu Männistö, Graeme J. Stewart, Gordon Mazibrada, Inger Lise Mero, Andre Franke, Philip L. De Jager, Verena Grummel, Mauri Reunanen, David R. Booth, Anna Ticca, Angela Jochim, Leentje Cosemans, Julia Y Mescheriakova, Cristina Agliardi, Paola Cavalla, Jeffrey C. Barrett, Sarah E. Hunt, Gavin Band

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2013, 45 (11), pp.1353-1360. ⟨10.1038/ng.2770⟩
Beecham, A H, Patsopoulos, N A, Xifara, D K, Davis, M F, Kemppinen, A, Cotsapas, C, Shah, T S, Spencer, C, Booth, D, Goris, A, Oturai, A, Saarela, J, Fontaine, B, Hemmer, B, Martin, C, Zipp, F, D'Alfonso, S, Martinelli-Boneschi, F, Taylor, B, Harbo, H F, Kockum, I, Hillert, J, Olsson, T, Ban, M, Oksenberg, J R, Hintzen, R, Barcellos, L F, Agliardi, C, Alfredsson, L, Alizadeh, M, Anderson, C, Andrews, R, Søndergaard, H B, Baker, A, Band, G, Baranzini, S E, Barizzone, N, Barrett, J, Bellenguez, C, Bergamaschi, L, Bernardinelli, L, Berthele, A, Biberacher, V, Binder, T M C, Blackburn, H, Bomfim, I L, Brambilla, P, Broadley, S, Wilson, J F & Henderson, P 2013, ' Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis ', Nature Genetics, vol. 45, no. 11, pp. 1353-60 . https://doi.org/10.1038/ng.2770
Nature genetics
Nature Genetics, 2013, 45 (11), pp.1353-1360. ⟨10.1038/ng.2770⟩
Nature Genetics, 45(11), 1353-+. Nature Publishing Group

International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4))

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaed6c6a6596c74a380f29f543038e03
https://doi.org/10.1038/ng.2770

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

Autor: Mero IL; Department of Medical Genetics, Oslo University Hospital, PB 4956 Nydalen, 0424, Oslo, Norway., Orozco Rodriguez JM; Department of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden., Bjørgo K; Department of Medical Genetics, Oslo University Hospital, PB 4956 Nydalen, 0424, Oslo, Norway., Hankin RA; Department of Radiology, Oslo University Hospital, PB 4950 Nydalen, 0424, Oslo, Norway., Krupinska E; Department of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden., Kulseth MA; Department of Medical Genetics, Oslo University Hospital, PB 4956 Nydalen, 0424, Oslo, Norway., Rossow MA; Department of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden., Knecht W; Department of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden.

Publikováno v: Heliyon [Heliyon] 2024 Sep 27; Vol. 10 (19), pp. e38659. Date of Electronic Publication: 2024 Sep 27 (Print Publication: 2024).

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Autor: Misceo D; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway., Senaratne LDS; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway., Mero IL; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway., Sundaram AYM; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway., Bjørnstad PM; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway., Szczałuba K; Department of Medical Genetics, Medical University of Warsaw, Żwirki i Wigury 61, 02-091 Warszawa, Poland., Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Żwirki i Wigury 61, 02-091 Warszawa, Poland., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, 374 Bagot Rd, Subiaco, WA 6008, Australia., Nedregaard B; Department of Radiology and Nuclear Medicine, Section of Neuroradiology, Oslo University Hospital, 0450 Oslo, Norway., Holmgren A; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway., Strømme P; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway.; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0450 Oslo, Norway., Frengen E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Faculty of Medicine, University of Oslo, 0450 Oslo, Norway.

Publikováno v: Genes [Genes (Basel)] 2023 Oct 24; Vol. 14 (11). Date of Electronic Publication: 2023 Oct 24.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Autor: Ververi A; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetic Unit, 1st Obstetrics-Gynaecology Department, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece., Zagaglia S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK., Menzies L; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Baptista J; Faculty of Health, University of Plymouth, Plymouth, UK., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Baulac S; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Sorbonne Université, F-75013 Paris, France., Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Lynch S; Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Jacques TS; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Chawla MS; Department of Neuroradiology, Oslo University Hospital, Oslo, Norway., Heier M; Department of Clinical Neuroscience for Children, Oslo University Hospital, Oslo, Norway., Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Våtevik AK; National Center for Epilepsy-SSE, Oslo Univeristy Hospital, Oslo, Norway., Kraoua I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ben Rhouma H; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ben Younes T; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Miladi Z; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ben Youssef Turki I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Jones WD; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Clement E; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Eltze C; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Merve A; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Parker J; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hoskins B; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Pressler R; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., DeVile C; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Homfray T; SW Thames Regional Genetics Service, St George's Hospital, St George's University of London, London, UK., Kaliakatsos M; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Robinson R; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Keim SMB; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Habibi I; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK., Hurst JA; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jan 27; Vol. 32 (4), pp. 580-594.

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Autor: Absalom NL; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Science, Western Sydney University, Sydney, NSW, Australia., Liao VWY; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Johannesen KMH; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Jacobs J; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Paediatrics and Department of Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Gokce-Samar Z; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France., Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Striano P; IRCCS Institute 'Giannina Gaslini', Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Meyer P; Pediatric Neurology Department, Phymedexp, Montpellier University, Inserm, CRNS, Montpellier University Hospital, Montpellier, France., Benkel-Herrenbrueck I; Sana-Krankenhaus Düsseldorf-Gerresheim, Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Rummel J; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway., Chebib M; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark. rimo@filadelfia.dk.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. rimo@filadelfia.dk., Ahring PK; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia. philip.ahring@sydney.edu.au.

Publikováno v: Nature communications [Nat Commun] 2022 Apr 05; Vol. 13 (1), pp. 1822. Date of Electronic Publication: 2022 Apr 05.