C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

Annals of Neurology

Volumn 76, Issue 1, 2014, Pages 120-133

  Diekstra, Frank P ^a   Van Deerlin, Vivianna M ^b   Van Swieten, John C ^c,d   Al Chalabi, Ammar ^e   Ludolph, Albert C ^f   Weishaupt, Jochen H ^f   Hardiman, Orla ^g,h   Landers, John E ^i,j   Brown, Robert H ^i,j   Van Es, Michael A ^a   Pasterkamp, R Jeroen ^a   Koppers, Max ^a   Andersen, Peter M ^k   Estrada, Karol ^d   Rivadeneira, Fernando ^d   Hofman, Albert ^d   Uitterlinden, André G ^d   Van Damme, Philip ^l,m   Melki, Judith ⁿ   Meininger, Vincent ^o   Shatunov, Aleksey ^e   Shaw, Christopher E ^e   Leigh, P Nigel ^e   Shaw, Pamela J ^p   Morrison, Karen E ^q   Fogh, Isabella ^e,r   Chiò, Adriano ^s   Traynor, Bryan J ^t,u   Czell, David ^v   Weber, Markus ^v   Heutink, Peter ^c   De Bakker, Paul I W ^w   Silani, Vincenzo ^r,x   Robberecht, Wim ^l,m   Van Den Berg, Leonard H ^a   Veldink, Jan H ^a   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF ULM   (Germany)

^g BEAUMONT HOSPITAL   (Ireland)

^h TRINITY COLLEGE DUBLIN   (Ireland)

ⁱ UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^j MASSACHUSETTS GENERAL HOSPITAL   (United States)

^k UMEÅ UNIVERSITY   (Sweden)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁿ UNIVERSITÉ PARIS SACLAY   (France)

^o SORBONNE UNIVERSITÉ   (France)

^p UNIVERSITY OF SHEFFIELD   (United Kingdom)

^q UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^r ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^s UNIVERSITY OF TURIN   (Italy)

^t NATIONAL INSTITUTES OF HEALTH   (United States)

^u JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^v CANTONAL HOSPITAL ST GALLEN   (Switzerland)

^w UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^x UNIVERSITY OF MILAN   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 9 OPEN READING FRAME 72; PEPTIDES AND PROTEINS; UNC13A; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 19P; CHROMOSOME 8Q; CHROMOSOME 9P; CONTROLLED STUDY; FRONTOTEMPORAL DEMENTIA; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMYOTROPHIC LATERAL SCLEROSIS; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 9; DNA REPEAT EXPANSION; FRONTOTEMPORAL DEMENTIA; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MUTATION; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS;

EID: 84904815950     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24198     Document Type: Article

References (38)

1. Murphy J, Henry R, Lomen-Hoerth C,. Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol 2007; 64: 330-334.
2. Ringholz GM, Appel SH, Bradshaw M, et al. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 2005; 65: 586-590.
3. Brettschneider J, Del Tredici K, Toledo JB, et al. Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. Ann Neurol 2013; 74: 20-38.
4. Gijselinck I, Engelborghs S, Maes G, et al. Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 2010; 67: 606-616.
5. Le Ber I, Camuzat A, Berger E, et al. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology 2009; 72: 1669-1676.
6. Vance C, Al-Chalabi A, Ruddy D, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006; 129: 868-876.
7. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256.
8. Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010; 9: 978-985.
9. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-268.
10. Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010; 9: 986-994.
11. van Es MA, Veldink JH, Saris CGJ, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009; 41: 1083-1087.
12. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012; 11: 323-330.
13. Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010; 68: 857-864.
14. Borroni B, Bonvicini C, Alberici A, et al. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum Mutat 2009; 30: E974-E983.
15. Mackenzie IR, Rademakers R, Neumann M,. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 2010; 9: 995-1007.
16. Van Deerlin VM, Sleiman PMA, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010; 42: 234-239.
17. Patsopoulos NA1, Bayer Pharma MS, Genetics Working Group, Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist, et al. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann Neurol 2011; 70: 897-912.
18. van der Zee J, Van Langenhove T, Kleinberger G, et al. TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. Brain 2011; 134: 808-815.
19. Vass R, Ashbridge E, Geser F, et al. Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis. Acta Neuropathol 2011; 121: 373-380.
20. Strong MJ, Lomen-Hoerth C, Caselli RJ, et al. Cognitive impairment, frontotemporal dementia, and the motor neuron diseases. Ann Neurol 2003; 54: S20-S23.
21. Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293-299.
22. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904-909.
23. Howie BN, Donnelly P, Marchini J,. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009; 5: e1000529.
24. de Bakker PIW, Ferreira MAR, Jia X, et al. Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol Genet 2008; 17: R122-R128.
25. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
26. Lee SH, Yang J, Goddard ME, et al. Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood. Bioinformatics 2012; 28: 2540-2542.
27. Yang J, Lee SH, Goddard ME, Visscher PM,. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet 2011; 88: 76-82.
28. Yang J, Ferreira T, Morris AP, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet 2012; 44: 369-375.
29. Breitling R, Armengaud P, Amtmann A, Herzyk P,. Rank products: a simple, yet powerful, new method to detect differentially regulated genes in replicated microarray experiments. FEBS Lett 2004; 573: 83-92.
30. Chiò A, Mora G, Restagno G, et al. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging 2013; 34: 357.e351-357.e355.
31. Diekstra FP, Van Vught PWJ, van Rheenen W, et al. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 630.e633-630.e638.
32. Varoqueaux F, Sons MS, Plomp JJ, Brose N,. Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse. Mol Cell Biol 2005; 25: 5973-5984.
33. Rothstein JD,. Current hypotheses for the underlying biology of amyotrophic lateral sclerosis. Ann Neurol 2009; 65 (suppl 1): S3-S9.
34. Huang C-C, Yang D-M, Lin C-C, Kao L-S,. Involvement of Rab3A in vesicle priming during exocytosis: interaction with Munc13-1 and Munc18-1. Traffic 2011; 12: 1356-1370.
35. Levine TP, Daniels RD, Gatta AT, et al. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 2013; 29: 499-503.
36. Zhang D, Iyer LM, He F, Aravind L,. Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet 2012; 3: 283.
37. Valdmanis PN, Meijer IA, Reynolds A, et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 2007; 80: 152-161.
38. Clemen CS, Tangavelou K, Strucksberg K-H, et al. Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain 2010; 133: 2920-2941.