Literature DB >> 26865406

Multiple sclerosis in families: risk factors beyond known genetic polymorphisms.

Denis A Akkad1, De-Hyung Lee2, Kathrin Bruch1, Aiden Haghikia3, Jörg T Epplen1,4, Sabine Hoffjan1, Ralf A Linker5.   

Abstract

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system that predominantly affects young adults. The genetic contributions to this multifactorial disease were underscored by genome wide association studies and independent replication studies. A weighted genetic risk score (wGRS) was recently established using the identified MS risk loci in order to predict MS outcome including clinical and paraclinical features. Here, we present the results on a family with several affected siblings including a monozygotic triplet. The individuals were genotyped for 57 non-MHC risk loci as well as the HLA DRB1*1501 tagging SNP rs3135388 with subsequent calculation of the wGRS. Additionally, SNP array based analyses for aberrant chromosomal regions were performed for all individuals.

Entities:  

Keywords:  Environmental factor; Familial multiple sclerosis; Neuroinflammation; Weighted genetic risk score

Mesh：

Substances：

Year:  2016        PMID： 26865406     DOI： 10.1007/s10048-016-0474-4

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  14 in total

1.  Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score.

Authors:  Philip L De Jager; Lori B Chibnik; Jing Cui; Joachim Reischl; Stephan Lehr; K Claire Simon; Cristin Aubin; David Bauer; Jürgen F Heubach; Rupert Sandbrink; Michaela Tyblova; Petra Lelkova; Eva Havrdova; Christoph Pohl; Dana Horakova; Alberto Ascherio; David A Hafler; Elizabeth W Karlson
Journal:  Lancet Neurol       Date:  2009-10-29       Impact factor: 44.182

Review 2.  Modelling genetic susceptibility to multiple sclerosis with family data.

Authors:  Cullen O'Gorman; Rui Lin; James Stankovich; Simon A Broadley
Journal:  Neuroepidemiology       Date:  2012-10-11       Impact factor: 3.282

3.  Dietary Fatty Acids Directly Impact Central Nervous System Autoimmunity via the Small Intestine.

Authors:  Aiden Haghikia; Stefanie Jörg; Alexander Duscha; Johannes Berg; Arndt Manzel; Anne Waschbisch; Anna Hammer; De-Hyung Lee; Caroline May; Nicola Wilck; Andras Balogh; Annika I Ostermann; Nils Helge Schebb; Denis A Akkad; Diana A Grohme; Markus Kleinewietfeld; Stefan Kempa; Jan Thöne; Seray Demir; Dominik N Müller; Ralf Gold; Ralf A Linker
Journal:  Immunity       Date:  2015-10-20       Impact factor: 31.745

4.  The British Isles survey of multiple sclerosis in twins.

Authors:  C J Mumford; N W Wood; H Kellar-Wood; J W Thorpe; D H Miller; D A Compston
Journal:  Neurology       Date:  1994-01       Impact factor: 9.910

5.  A population-based study of multiple sclerosis in twins: update.

Authors:  A D Sadovnick; H Armstrong; G P Rice; D Bulman; L Hashimoto; D W Paty; S A Hashimoto; S Warren; W Hader; T J Murray
Journal:  Ann Neurol       Date:  1993-03       Impact factor: 10.422

6.  Identification of a sequence-specific single-stranded DNA binding protein that suppresses transcription of the mouse myelin basic protein gene.

Authors:  S Haas; A Steplewski; L D Siracusa; S Amini; K Khalili
Journal:  J Biol Chem       Date:  1995-05-26       Impact factor: 5.157

7.  Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array.

Authors:  Theresa Dankowski; Dorothea Buck; Till F M Andlauer; Gisela Antony; Antonios Bayas; Lukas Bechmann; Achim Berthele; Thomas Bettecken; Andrew Chan; Andre Franke; Ralf Gold; Christiane Graetz; Jürgen Haas; Michael Hecker; Stefan Herms; Carmen Infante-Duarte; Karl-Heinz Jöckel; Bernd C Kieseier; Benjamin Knier; Matthias Knop; Tania Kümpfel; Peter Lichtner; Wolfgang Lieb; Christina M Lill; Volker Limmroth; Ralf A Linker; Verena Loleit; Sven G Meuth; Susanne Moebus; Bertram Müller-Myhsok; Sandra Nischwitz; Markus M Nöthen; Friedemann Paul; Michael Pütz; Tobias Ruck; Anke Salmen; Martin Stangel; Jan-Patrick Stellmann; Konstantin Strauch; Klarissa H Stürner; Björn Tackenberg; Florian Then Bergh; Hayrettin Tumani; Melanie Waldenberger; Frank Weber; Heinz Wiendl; Brigitte Wildemann; Uwe K Zettl; Ulf Ziemann; Frauke Zipp; Bernhard Hemmer; Andreas Ziegler
Journal:  Genet Epidemiol       Date:  2015-10-26       Impact factor: 2.135

8.  Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Authors:  Stephen Sawcer; Garrett Hellenthal; Matti Pirinen; Chris C A Spencer; Nikolaos A Patsopoulos; Loukas Moutsianas; Alexander Dilthey; Zhan Su; Colin Freeman; Sarah E Hunt; Sarah Edkins; Emma Gray; David R Booth; Simon C Potter; An Goris; Gavin Band; Annette Bang Oturai; Amy Strange; Janna Saarela; Céline Bellenguez; Bertrand Fontaine; Matthew Gillman; Bernhard Hemmer; Rhian Gwilliam; Frauke Zipp; Alagurevathi Jayakumar; Roland Martin; Stephen Leslie; Stanley Hawkins; Eleni Giannoulatou; Sandra D'alfonso; Hannah Blackburn; Filippo Martinelli Boneschi; Jennifer Liddle; Hanne F Harbo; Marc L Perez; Anne Spurkland; Matthew J Waller; Marcin P Mycko; Michelle Ricketts; Manuel Comabella; Naomi Hammond; Ingrid Kockum; Owen T McCann; Maria Ban; Pamela Whittaker; Anu Kemppinen; Paul Weston; Clive Hawkins; Sara Widaa; John Zajicek; Serge Dronov; Neil Robertson; Suzannah J Bumpstead; Lisa F Barcellos; Rathi Ravindrarajah; Roby Abraham; Lars Alfredsson; Kristin Ardlie; Cristin Aubin; Amie Baker; Katharine Baker; Sergio E Baranzini; Laura Bergamaschi; Roberto Bergamaschi; Allan Bernstein; Achim Berthele; Mike Boggild; Jonathan P Bradfield; David Brassat; Simon A Broadley; Dorothea Buck; Helmut Butzkueven; Ruggero Capra; William M Carroll; Paola Cavalla; Elisabeth G Celius; Sabine Cepok; Rosetta Chiavacci; Françoise Clerget-Darpoux; Katleen Clysters; Giancarlo Comi; Mark Cossburn; Isabelle Cournu-Rebeix; Mathew B Cox; Wendy Cozen; Bruce A C Cree; Anne H Cross; Daniele Cusi; Mark J Daly; Emma Davis; Paul I W de Bakker; Marc Debouverie; Marie Beatrice D'hooghe; Katherine Dixon; Rita Dobosi; Bénédicte Dubois; David Ellinghaus; Irina Elovaara; Federica Esposito; Claire Fontenille; Simon Foote; Andre Franke; Daniela Galimberti; Angelo Ghezzi; Joseph Glessner; Refujia Gomez; Olivier Gout; Colin Graham; Struan F A Grant; Franca Rosa Guerini; Hakon Hakonarson; Per Hall; Anders Hamsten; Hans-Peter Hartung; Rob N Heard; Simon Heath; Jeremy Hobart; Muna Hoshi; Carmen Infante-Duarte; Gillian Ingram; Wendy Ingram; Talat Islam; Maja Jagodic; Michael Kabesch; Allan G Kermode; Trevor J Kilpatrick; Cecilia Kim; Norman Klopp; Keijo Koivisto; Malin Larsson; Mark Lathrop; Jeannette S Lechner-Scott; Maurizio A Leone; Virpi Leppä; Ulrika Liljedahl; Izaura Lima Bomfim; Robin R Lincoln; Jenny Link; Jianjun Liu; Aslaug R Lorentzen; Sara Lupoli; Fabio Macciardi; Thomas Mack; Mark Marriott; Vittorio Martinelli; Deborah Mason; Jacob L McCauley; Frank Mentch; Inger-Lise Mero; Tania Mihalova; Xavier Montalban; John Mottershead; Kjell-Morten Myhr; Paola Naldi; William Ollier; Alison Page; Aarno Palotie; Jean Pelletier; Laura Piccio; Trevor Pickersgill; Fredrik Piehl; Susan Pobywajlo; Hong L Quach; Patricia P Ramsay; Mauri Reunanen; Richard Reynolds; John D Rioux; Mariaemma Rodegher; Sabine Roesner; Justin P Rubio; Ina-Maria Rückert; Marco Salvetti; Erika Salvi; Adam Santaniello; Catherine A Schaefer; Stefan Schreiber; Christian Schulze; Rodney J Scott; Finn Sellebjerg; Krzysztof W Selmaj; David Sexton; Ling Shen; Brigid Simms-Acuna; Sheila Skidmore; Patrick M A Sleiman; Cathrine Smestad; Per Soelberg Sørensen; Helle Bach Søndergaard; Jim Stankovich; Richard C Strange; Anna-Maija Sulonen; Emilie Sundqvist; Ann-Christine Syvänen; Francesca Taddeo; Bruce Taylor; Jenefer M Blackwell; Pentti Tienari; Elvira Bramon; Ayman Tourbah; Matthew A Brown; Ewa Tronczynska; Juan P Casas; Niall Tubridy; Aiden Corvin; Jane Vickery; Janusz Jankowski; Pablo Villoslada; Hugh S Markus; Kai Wang; Christopher G Mathew; James Wason; Colin N A Palmer; H-Erich Wichmann; Robert Plomin; Ernest Willoughby; Anna Rautanen; Juliane Winkelmann; Michael Wittig; Richard C Trembath; Jacqueline Yaouanq; Ananth C Viswanathan; Haitao Zhang; Nicholas W Wood; Rebecca Zuvich; Panos Deloukas; Cordelia Langford; Audrey Duncanson; Jorge R Oksenberg; Margaret A Pericak-Vance; Jonathan L Haines; Tomas Olsson; Jan Hillert; Adrian J Ivinson; Philip L De Jager; Leena Peltonen; Graeme J Stewart; David A Hafler; Stephen L Hauser; Gil McVean; Peter Donnelly; Alastair Compston
Journal:  Nature       Date:  2011-08-10       Impact factor: 49.962

9.  Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction.

Authors:  Federica Esposito; Clara Guaschino; Melissa Sorosina; Ferdinando Clarelli; Laura Ferre'; Elisabetta Mascia; Silvia Santoro; Matteo Pagnesi; Marta Radaelli; Bruno Colombo; Lucia Moiola; Mariaemma Rodegher; Elia Stupka; Vittorio Martinelli; Giancarlo Comi; Filippo Martinelli Boneschi
Journal:  Neurol Neuroimmunol Neuroinflamm       Date:  2015-07-09

10.  Modest familial risks for multiple sclerosis: a registry-based study of the population of Sweden.

Authors:  Helga Westerlind; Ryan Ramanujam; Daniel Uvehag; Ralf Kuja-Halkola; Marcus Boman; Matteo Bottai; Paul Lichtenstein; Jan Hillert
Journal:  Brain       Date:  2014-01-17       Impact factor: 13.501
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  1 in total

Review 1.  Correlation of geographic distributions of haptoglobin alleles with prevalence of multiple sclerosis (MS) - a narrative literature review.

Authors:  Vladimir V Bamm; Arielle M Geist; George Harauz
Journal:  Metab Brain Dis       Date:  2016-11-02       Impact factor: 3.584
  1 in total

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