Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration

  1. E. Venturelli1,†,
  2. C. Villa1,†,
  3. E. Scarpini1,
  4. C. Fenoglio1,
  5. I. Guidi1,
  6. C. Lovati2,
  7. A. Marcone3,
  8. F. Cortini1,
  9. D. Scalabrini1,
  10. F. Clerici2,
  11. N. Bresolin1,
  12. C. Mariani2,
  13. S. Cappa3,4,
  14. D. Galimberti1

Article first published online: 27 NOV 2007

DOI: 10.1111/j.1468-1331.2007.02007.x

Issue

European Journal of Neurology

European Journal of Neurology

Volume 15, Issue 1, pages 77–81, January 2008

Additional Information

How to Cite

Venturelli, E., Villa, C., Scarpini, E., Fenoglio, C., Guidi, I., Lovati, C., Marcone, A., Cortini, F., Scalabrini, D., Clerici, F., Bresolin, N., Mariani, C., Cappa, S. and Galimberti, D. (2008), Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration. European Journal of Neurology, 15: 77–81. doi: 10.1111/j.1468-1331.2007.02007.x

Author Information

  1. 1

    Department of Neurological Sciences, “Dino Ferrari” Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy

  2. 2

    Department of Neurology, University of Milan, Ospedale L. Sacco, Milan, Italy

  3. 3

    Division of Neurology, San Raffaele Turro Hospital, San Raffaele Scientific Institute, Milan, Italy

  4. 4

    Vita-Salute San Raffaele University, Milan, Italy

  1. †

    These authors contributed equally to this work.

*Daniela Galimberti, Department of Neurological Sciences, “Dino Ferrari” Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy (tel.: +39 2 55033858; fax: +39 2 50320430; e-mail: daniela.galimberti@unimi.it).

Publication History

  1. Issue published online: 27 NOV 2007
  2. Article first published online: 27 NOV 2007
  3. Received 13 June 2007 Accepted 25 October 2007

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Keywords:

  • corticobasal degeneration;
  • frontotemporal lobar degeneration;
  • neuronal nitric oxide synthase;
  • polymorphism;
  • progressive supranuclear palsy;
  • risk factor

The neuronal nitric oxide synthase (nNOS) is abundantly expressed in the brain and its transcripts have been found in the frontal cerebral cortex. Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). A significantly increased allelic frequency of the T allele was observed in patients compared with CON (40.4% vs. 29.7%, P = 0.014, OR: 1.94, CI: 1.15–3.27). Considering each disorder separately, significance was reached for FTLD only (39.4%, P = 0.0248 versus controls, OR: 1.96, CI: 1.11–3.47). However, the frequency of the T allele was elevated also in patients with PSP (45.8%) and CBD (41.7%). No differences were observed stratifying according to gender or apolipoprotein E status. The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription. Studies in larger populations are needed to confirm its role in PSP and CBD.

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