350
Views
5
CrossRef citations to date
0
Altmetric
ORIGINAL ARTICLE

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

, , , , , , , , , , , , & show all
Pages 490-496 | Received 29 Dec 2014, Accepted 13 Mar 2015, Published online: 17 Jun 2015

References

  • Mulder DW. Clinical limits of amyotrophic lateral sclerosis. Adv Neurol. 1982;36:15–22.
  • Boillee S, van de Velde C, Cleveland DW. ALS: a disease of motor neurons and their non-neuronal neighbours. Neuron. 2006;52:39–59.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf72 causes chromosome 9p-Linked FTD and ALS. Neuron. 2011;72:245–56.
  • Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-Linked ALS-FTD. Neuron. 2011;72:257–68.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol. 2008;63:535–8.
  • Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319:1668–72.
  • Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–8.
  • Vance C, Rogelj B, Hortobagyi T, de Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208–11.
  • Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Müh JP, et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol. 2002;51:243–6.
  • Veldink JH, Kalmijn S, van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, et al. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology. 2005;65:820–5.
  • Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med. 2007;357:775–88.
  • van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol. 2007;6:869–77.
  • van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, van den Bosch L, et al. 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 Am, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009;41:1083–7.
  • Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, et al. A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. Hum Mol Genet. 2011;20:3684–92.
  • Deng M, Wei L, Zuo X, Tian Y, Xie F, Hu P, et al. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet. 2013;45:697–700.
  • Dupuis L, Gonzalez de Aguilar JL, di Scala F, Rene F, de Tapia M, et al. Nogo provides a molecular marker for diagnosis of amyotrophic lateral sclerosis. Neurobiol Dis. 2002;10:358–65.
  • Jokic N, Gonzalez de Aguilar JL, Dimou L, Lin S, Fergani A, Ruegg MA, et al. The neurite outgrowth inhibitor Nogo-A promotes denervation in an amyotrophic lateral sclerosis model. EMBO Rep. 2006;7:1162–7.
  • Pernet V, Schwab ME. The role of Nogo-A in axonal plasticity, regrowth and repair. Cell Tissue Res. 2013;349:97–104.
  • Steele AD, Yi CH. Neuromuscular denervation: Bax up against the wall in amyotrophic lateral sclerosis. J Neurosci. 2006;26:12849–51.
  • Dupuis L, Pehar M, Cassina P, Rene F, Castellanos R, Rouaux C, et al. Nogo receptor antagonizes p75NTR-dependent motor neuron death. Proc Natl Acad Sci U S A. 2008;105:740–5.
  • International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299–320.
  • Sambrook J, Fritschi EF, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, New York. 1989.
  • Sommer WH, Lidström J, Sun H, Passer D, Eskay R, Parker SCJ, et al. Human NPY Promoter Variation rs16147 as a Moderator of Prefrontal NPY Gene Expression and Negative Affect. Hum Mutat. 2010;31:E1594–608.
  • Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 1995;92:689–93.
  • Lutz-Bucher B, González de Aguilar JL, René F, Sée V, Gordon JW, Loeffler J. Oxidative stress and a murine superoxide dismutase-1 mutation promoting amyotrophic lateral sclerosis alter neurosecretion in the hypothalamo-neurohypophyseal axis. Neuroendocrinology. 1999;69:377–84.
  • Lenzlinger PM, Shimizu S, Marklund N, Thompson HJ, Schwab ME, Saatman KE, et al. Delayed inhibition of Nogo-A does not alter injury-induced axonal sprouting but enhances recovery of cognitive function following experimental traumatic brain injury in rats. Neuroscience. 2005;134:1047–56.
  • NCI-NHGRI Working Group on Replication in Association Studies. Replicating genotype-phenotype associations. Nature. 2007;447:655–60.
  • Majounie E, Renton AE, Mok K, Dopper EGP, Waite Q, Rollinson S, 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: 323–30.
  • Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, et al. 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.
  • Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, et al. A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet. 2007;17:768–74.
  • Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009;18:1524–32.
  • Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, et al. 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.
  • Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, et al. 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, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010;9:986–94.
  • Hsu R, Woodroffe A, Lai WS, Cook MN, Mukai J, Dunning JP, et al. Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches. PLoS One. 2007;2:e1234.
  • Voineskos AN. Converging evidence for the Nogo-66 receptor gene in schizophrenia. J Neurosci. 2009;29:5045–7.
  • Willi R, Schwab ME. Nogo and Nogo receptor: relevance to schizophrenia? Neurobiol Dis. 2013;54:150–7.
  • Kel AE, Goessling E, Reuter I, Cheremushkin E, Kel-Margoulis OV, Wingender E. MATCH™: a tool for searching transcription factor binding sites in DNA sequences. Nucleic Acids Res. 2003;31:3576–9.
  • Puthalakath H, O’Reilly LA, Gunn P, Lee L, Kelly PN, Huntington ND, et al. ER stress triggers apoptosis by activating BH3-only protein Bim. Cell. 2007;129:1337–49.
  • Miyazaki K, Nagai M, Ohta Y, Morimoto N, Kurata T, Murakami T, et al. Changes of Nogo-A and receptor NgR in the lumbar spinal cord of ALS model mice. Neurol Res. 2009;31:316–21.
  • Spanagel R, Durstewitz D, Hansson A, Heinz A, Kiefer F, Köhr G, Matthaus F, Nöthen MM, Noori HR, Obermayer K, Rietschel M, Schloss P, Scholz H, Schumann G, Smolka M, Sommer W, Vengeliene V, Walter H, Wurst W, Zimmermann US; Addiction GWAS Resource Group, Stringer S, Smits Y, Derks EM. A systems medicine research approach for studying alcohol addiction. Addict Biol. 2013;18: 883–96.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.