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Original Article

Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases

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Pages 238-249 | Received 10 Mar 2011, Accepted 05 Apr 2011, Published online: 27 Jun 2011

References

  • Schottkzy J. Ueber praesenile Verbloedungen. Z Ges Neurol Psychiat. 1932;140:333–97.
  • Gowers WR. A Manual of Diseases of the Nervous System. Vol. I. Diseases of the nerves and spinal cord. 3rd. Philadelphia: P. Blakiston's Son & Co.; 1900.
  • Aran FA. Recherches sur une maladie non encore decrite dy systeme musculaire (atrophie musculaire progressive). Archs Gen Med. 1850;3:5–35.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, . Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Online Mendelian Inheritance in Man (OMIM). Hum Mutat. 2000;15:57–61.
  • Cotton RG, McKusick V, Scriver CR. The HUGO Mutation Database Initiative. Science. 1998;279:10–1.
  • Scriver CR, Nowacki PM, Lehvaslaiho H. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress. Hum Mutat. 2000;15:13–5.
  • Claustres M, Horaitis O, Vanevski M, Cotton RG. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res. 2002;12:680–8.
  • George RA, Smith TD, Callaghan S, Hardman L, Pierides C, Horaitis O, . General mutation databases: analysis and review. J Med Genet. 2008;45:65–70.
  • Soussi T, Ishioka C, Claustres M, Beroud C. Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer. 2006;6:83–90.
  • Radunovic A, Leigh PN. ALSODatabase: database of SOD1 (and other) gene mutations in ALS on the internet. European FALS Group and ALSOD Consortium. Amyotroph Lateral Scler Other Motor Neuron Disord. 1999;1:45–9.
  • Wroe R, Wai-Ling Butler A, Andersen PM, Powell JF, Al-Chalabi A. ALSOD: the Amyotrophic Lateral Sclerosis Online Database. Amyotroph Lateral Scler. 2008;9:249–50.
  • Yoshida M, Takahashi Y, Koike A, Fukuda Y, Goto J, Tsuji S. A mutation database for amyotrophic lateral sclerosis. Hum Mutat. 2010;31:1003–10.
  • Warde-Farley D, Donaldson SL, Comes O, Zuberi K, Badrawi R, Chao P, . The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function. Nucleic Acids Res. 2010;38: 214–20.
  • Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, . Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med. 2007; 357:775–88.
  • Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, . Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007;6:322–8.
  • van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, . ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol. 2007;6:869–77.
  • Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, . A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet. 2008;17:768–74.
  • van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, van den Bosch L, . Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet. 2008;40:29–31.
  • van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, . Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009;41: 1083–7.
  • Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, . Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009;106:9004–9.
  • Chio A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, . A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009;18:1524–32.
  • Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, . Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010;9:978–85.
  • Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, . Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010;9: 986–94.
  • Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE. Systematic meta-analyses of Alzheimer's disease genetic association studies: the AlzGene database. Nat Genet. 2007;39:17–23.
  • Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, . The PDGene Database. Alzheimer Research Forum. Available at: http://www.pdgene.org/.
  • Ioannidis JP, Boffetta P, Little J, O'Brien TR, Uitterlinden AG, Vineis P, . Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol. 2008;37:120–32.
  • Khoury MJ, Bertram L, Boffetta P, Butterworth AS, Chanock SJ, Dolan SM, . Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. Am J Epidemiol. 2009;170:269–79.
  • Ioannidis JP. Effect of formal statistical significance on the credibility of observational associations. Am J Epidemiol. 2008;168:374–83; discussion 384–90.
  • Daoud H, Belzil V, Desjarlais A, Camu W, Dion PA, Rouleau GA. Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. Arch Neurol. 2010;67: 516–7.
  • Iida A, Takahashi A, Deng M, Zhang Y, Wang J, Atsuta N, . Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians. Neurobiol Aging. 2011;32:757. e13–4.

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