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

References

• Mulder DW. Clinical limits of amyotrophic lateral sclerosis. Adv Neurol. 1982;36:15–22.
   PubMedGoogle Scholar
• Boillee S, van de Velde C, Cleveland DW. ALS: a disease of motor neurons and their non-neuronal neighbours. Neuron. 2006;52:39–59.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Pernet V, Schwab ME. The role of Nogo-A in axonal plasticity, regrowth and repair. Cell Tissue Res. 2013;349:97–104.
   Web of Science ®Google Scholar
• Steele AD, Yi CH. Neuromuscular denervation: Bax up against the wall in amyotrophic lateral sclerosis. J Neurosci. 2006;26:12849–51.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299–320.
   PubMed Web of Science ®Google Scholar
• Sambrook J, Fritschi EF, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, New York. 1989.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• NCI-NHGRI Working Group on Replication in Association Studies. Replicating genotype-phenotype associations. Nature. 2007;447:655–60.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Voineskos AN. Converging evidence for the Nogo-66 receptor gene in schizophrenia. J Neurosci. 2009;29:5045–7.
   PubMed Web of Science ®Google Scholar
• Willi R, Schwab ME. Nogo and Nogo receptor: relevance to schizophrenia? Neurobiol Dis. 2013;54:150–7.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar