Journal ArticleDOI
Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis
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TLDR
The data indicate that mutations in DPP6 and FGGY genes are unlikely to be a common cause of ALS in the French and French Canadian populations.Abstract:
DPP6 and FGGY genes have been recently associated with an increased susceptibility for sporadic amyotrophic lateral sclerosis. Here, we evaluated the role of these genes in ALS pathogenesis by undertaking a sequence analysis of a cohort of 190 ALS patients from France and Quebec. We did not observe any evidence that mutations in DPP6 and FGGY genes are involved in ALS. Our data indicate that mutations in these genes are unlikely to be a common cause of ALS in the French and French Canadian populations.read more
Citations
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Journal ArticleDOI
Familial Amyotrophic Lateral Sclerosis
TL;DR: Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes.
Book ChapterDOI
Genetics of Amyotrophic Lateral Sclerosis
TL;DR: This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors.
Journal ArticleDOI
Unravelling the immunological roles of dipeptidyl peptidase 4 (DPP4) activity and/or structure homologue (DASH) proteins
TL;DR: This review uncovers the complex roles of DASH proteins in immunology and poses the challenge of drug selectivity concerning other DASH members for better efficacy and/or avoidance of unwanted side effects.
Journal ArticleDOI
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Cyril Pottier,Yingxue Ren,Ralph B. Perkerson,Matt Baker,Gregory D. Jenkins,Marka van Blitterswijk,Mariely DeJesus-Hernandez,Jeroen van Rooij,Melissa E. Murray,Elizabeth Christopher,Shannon K. McDonnell,Zachary C. Fogarty,Anthony Batzler,Shulan Tian,Cristina T. Vicente,Billie J. Matchett,Anna Karydas,Ging-Yuek Robin Hsiung,Harro Seelaar,Merel O. Mol,Elizabeth Finger,Caroline Graff,Linn Öijerstedt,Manuela Neumann,Manuela Neumann,Peter Heutink,Peter Heutink,Matthis Synofzik,Matthis Synofzik,Carlo Wilke,Carlo Wilke,Johannes Prudlo,Johannes Prudlo,Patrizia Rizzu,Javier Simón-Sánchez,Javier Simón-Sánchez,Dieter Edbauer,Sigrun Roeber,Janine Diehl-Schmid,Bret M. Evers,Andy King,Andy King,M.-Marsel Mesulam,Sandra Weintraub,Changiz Geula,Kevin F. Bieniek,Kevin F. Bieniek,Leonard Petrucelli,Geoffrey L. Ahern,Eric M. Reiman,Bryan K. Woodruff,Richard J. Caselli,Edward D. Huey,Martin R. Farlow,Jordan Grafman,Simon Mead,Lea T. Grinberg,Salvatore Spina,Murray Grossman,David J. Irwin,Edward B. Lee,EunRan Suh,Julie S. Snowden,David G. Mann,Nilufer Ertekin-Taner,Ryan J. Uitti,Zbigniew K. Wszolek,Keith A. Josephs,Joseph E. Parisi,David S. Knopman,Ronald C. Petersen,John R. Hodges,Olivier Piguet,Ethan G. Geier,Jennifer S. Yokoyama,Robert A. Rissman,Ekaterina Rogaeva,Julia Keith,Lorne Zinman,Maria Carmela Tartaglia,Maria Carmela Tartaglia,Nigel J. Cairns,Carlos Cruchaga,Bernardino Ghetti,Julia Kofler,Oscar L. Lopez,Oscar L. Lopez,Thomas G. Beach,Thomas Arzberger,Thomas Arzberger,Jochen Herms,Jochen Herms,Lawrence S. Honig,Jean Paul G. Vonsattel,Glenda M. Halliday,Glenda M. Halliday,John B.J. Kwok,John B.J. Kwok,Charles L. White,Marla Gearing,Jonathan D. Glass,Sara Rollinson,Stuart Pickering-Brown,Jonathan D. Rohrer,John Q. Trojanowski,Vivianna M. Van Deerlin,Eileen H. Bigio,Claire Troakes,Safa Al-Sarraj,Safa Al-Sarraj,Yan W. Asmann,Bruce L. Miller,Neill R. Graff-Radford,Bradley F. Boeve,William W. Seeley,Ian R. A. Mackenzie,John C. van Swieten,Dennis W. Dickson,Joanna M. Biernacka,Rosa Rademakers +119 more
TL;DR: A possible role for genes functioning within the TBK1-related immune pathway (e.g., DHX58, TRIM21, IRF7) in the genetic etiology of FTLD-TDP is discovered and strongly implicates the immune pathway in FTLD/TDP pathogenesis.
Journal ArticleDOI
A large genome scan for rare CNVs in amyotrophic lateral sclerosis
Hylke M. Blauw,Ammar Al-Chalabi,Peter M. Andersen,Peter M. Andersen,Paul W.J. van Vught,Frank P. Diekstra,Michael A. van Es,Christiaan G J Saris,Ewout J N Groen,Wouter van Rheenen,Max Koppers,Ruben van 't Slot,Eric Strengman,Karol Estrada,Fernando Rivadeneira,Albert Hofman,André G. Uitterlinden,Lambertus A. Kiemeney,Sita H. Vermeulen,Anna Birve,Stefan Waibel,Thomas F. Meyer,Simon Cronin,Russell L. McLaughlin,Orla Hardiman,Orla Hardiman,Peter C. Sapp,Martin D. Tobin,Louise V. Wain,Barbara Tomik,Agnieszka Slowik,Robin Lemmens,Robin Lemmens,Dan Rujescu,Claudia Schulte,Thomas Gasser,Robert H. Brown,Robert H. Brown,John Landers,John Landers,Wim Robberecht,Wim Robberecht,Albert C. Ludolph,Roel A. Ophoff,Jan H. Veldink,Leonard H. van den Berg +45 more
TL;DR: A genome-wide screen of 1875 cases and 8731 controls did not find evidence for a difference in global CNV burden between cases and controls and highlighted DPP6 and NIPA1 as candidates for more in-depth studies.
References
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Journal ArticleDOI
Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis
Travis Dunckley,Matthew J. Huentelman,David Craig,John V. Pearson,Szabolcs Szelinger,Keta Joshipura,Rebecca F. Halperin,Chelsea Stamper,Kendall Jensen,David Letizia,Sharon E. Hesterlee,Alan Pestronk,Todd Levine,Tulio E. Bertorini,Michael C. Graves,Tahseen Mozaffar,Carlayne E. Jackson,Peter Bosch,April McVey,Arthur Dick,Richard J. Barohn,Catherine Lomen-Hoerth,Jeffrey Rosenfeld,Daniel T. O'Connor,Kuixing Zhang,Richard Crook,Henrik Ryberg,Mike Hutton,Jonathan S. Katz,Ericka Simpson,Hiroshi Mitsumoto,Robert Bowser,Robert G. Miller,Stanley H. Appel,Dietrich A. Stephan +34 more
TL;DR: Variants of FLJ10986 may confer susceptibility to sporadic ALS and 50 other candidate loci warrant further investigation for their potential role in conferring susceptibility to the disease.
Journal ArticleDOI
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
Michael A. van Es,Paul W.J. van Vught,Hylke M. Blauw,Lude Franke,Christiaan G J Saris,Ludo Van Den Bosch,Sonja W. de Jong,Vianney de Jong,Frank Baas,Frank Baas,Ruben van 't Slot,Robin Lemmens,Helenius J. Schelhaas,Anna Birve,Kristel Sleegers,Christine Van Broeckhoven,Jennifer C. Schymick,Bryan J. Traynor,John H. J. Wokke,Cisca Wijmenga,Wim Robberecht,Peter M. Andersen,Jan H. Veldink,Roel A. Ophoff,Roel A. Ophoff,Leonard H. van den Berg +25 more
TL;DR: This work has identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis in different populations of European ancestry and may be a target for future functional studies.
Journal ArticleDOI
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Adriano Chiò,Jennifer C. Schymick,Jennifer C. Schymick,Gabriella Restagno,Sonja W. Scholz,Sonja W. Scholz,Federica Lombardo,Shiao Lin Lai,Shiao Lin Lai,Gabriele Mora,Gabriele Mora,Hon Chung Fung,Hon Chung Fung,Angela Britton,Sampath Arepalli,J. Raphael Gibbs,J. Raphael Gibbs,Mike A. Nalls,Stephen Berger,Lydia Coulter Kwee,Eugene Z. Oddone,Jinhui Ding,Cynthia Crews,Ian Rafferty,Nicole Washecka,Dena G. Hernandez,Dena G. Hernandez,Luigi Ferrucci,Stefania Bandinelli,Jack M. Guralnik,Fabio Macciardi,Federica Torri,Sara Lupoli,Stephen J. Chanock,Gilles Thomas,David J. Hunter,David J. Hunter,Christian Gieger,H.-Erich Wichmann,Andrea Calvo,Roberto Mutani,Stefania Battistini,Fabio Giannini,Claudia Caponnetto,Giovanni Luigi Mancardi,Vincenzo La Bella,Francesca Valentino,Maria Rosaria Monsurrò,Gioacchino Tedeschi,Kalliopi Marinou,Mario Sabatelli,Amelia Conte,Jessica Mandrioli,Patrizia Sola,Fabrizio Salvi,Ilaria Bartolomei,Gabriele Siciliano,Cecilia Carlesi,Richard W. Orrell,Kevin Talbot,Zachary Simmons,James R. Connor,Erik P. Pioro,Travis Dunkley,Dietrich A. Stephan,Dalia Kasperaviciute,Elizabeth M. C. Fisher,Sibylle Jabonka,Michael Sendtner,Marcus Beck,Lucie Bruijn,Jeffrey D. Rothstein,Silke Schmidt,Andrew B. Singleton,John Hardy,John Hardy,Bryan J. Traynor,Bryan J. Traynor +77 more
TL;DR: The findings of this GWAS suggest that ALS is more genetically and clinically heterogeneous than previously recognized.
Journal ArticleDOI
Recent advances in the genetics of amyotrophic lateral sclerosis
TL;DR: The first wave of genomewide association studies in ALS clearly show that there is no definitive and common highly penetrant allele that causes ALS, and some interesting candidate genes emerged from these studies.
Journal ArticleDOI
Screening for replication of genome-wide SNP associations in sporadic ALS.
TL;DR: In this article, a joint analysis of genome-wide association (GWA) data on 958 sporadic amyotrophic lateral sclerosis (ALS) cases and 932 controls from Ireland and the publicly available data sets from the United States and the Netherlands was reported.
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A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
Michael A. van Es,Paul W.J. van Vught,Hylke M. Blauw,Lude Franke,Christiaan G J Saris,Ludo Van Den Bosch,Sonja W. de Jong,Vianney de Jong,Frank Baas,Frank Baas,Ruben van 't Slot,Robin Lemmens,Helenius J. Schelhaas,Anna Birve,Kristel Sleegers,Christine Van Broeckhoven,Jennifer C. Schymick,Bryan J. Traynor,John H. J. Wokke,Cisca Wijmenga,Wim Robberecht,Peter M. Andersen,Jan H. Veldink,Roel A. Ophoff,Roel A. Ophoff,Leonard H. van den Berg +25 more
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Michael A. van Es,Jan H. Veldink,Christiaan G J Saris,Hylke M. Blauw,Paul W.J. van Vught,Anna Birve,Robin Lemmens,Robin Lemmens,Helenius J. Schelhaas,Ewout J N Groen,Mark H B Huisman,Anneke J. van der Kooi,Marianne de Visser,Caroline Dahlberg,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Machiel J. Zwarts,Perry T.C. van Doormaal,Dan Rujescu,Eric Strengman,Ina Giegling,Pierandrea Muglia,Barbara Tomik,Agnieszka Slowik,André G. Uitterlinden,Corinna Hendrich,Stefan Waibel,Thomas F. Meyer,Albert C. Ludolph,Jonathan D. Glass,Shaun Purcell,Sven Cichon,Markus M. Nöthen,H-Erich Wichmann,Stefan Schreiber,Sita H. Vermeulen,Lambertus A. Kiemeney,John H. J. Wokke,Simon Cronin,Simon Cronin,Russell L. McLaughlin,Russell L. McLaughlin,Orla Hardiman,Orla Hardiman,Katsumi Fumoto,R. Jeroen Pasterkamp,Vincent Meininger,Judith Melki,P. Nigel Leigh,Christopher Shaw,John Landers,John Landers,Ammar Al-Chalabi,Robert H. Brown,Robert H. Brown,Wim Robberecht,Wim Robberecht,Peter M. Andersen,Roel A. Ophoff,Roel A. Ophoff,Leonard H. van den Berg +61 more