Association of a NOS1 promoter repeat with Alzheimer's disease

Daniela Galimberti, Elio Scarpini, Eliana Venturelli, Alexander Strobel, Sabine Herterich, Chiara Fenoglio, Ilaria Guidi, Diego Scalabrini, Francesca Cortini, Nereo Bresolin, Klaus Peter Lesch, Andreas Reif

Research output: Contribution to journalArticlepeer-review


The gene encoding NOS-I (NOS1) displays a complex transcriptional regulation, with nine alternative first exons. Exon 1c and 1f are the most abundant forms in the brain. A functional single nucleotide polymorphism (SNP) in exon 1c and a polymorphism in exon 1f, consisting of a variable number of tandem repeats (VNTR) originating short (S) and long (L) alleles, were studied in 184 patients with Alzheimer's disease (AD) and 144 gender- and age-matched controls. No differences were found for the Ex1c G-84A. The Ex1f-VNTR S allele was significantly more common in AD (55% versus 44%, P = 0.009, OR = 1.52) as was the S/S genotype (28% versus 14%, P = 0.008; OR = 2.37). The S allele showed a highly significant interaction with the ApoE ε4 allele (OR: 10.83). Therefore, short alleles of the NOS1 exon 1f-VNTR are likely to be susceptibility factors for AD, and interact with the ε4 allele to markedly increase the AD risk.

Original languageEnglish
Pages (from-to)1359-1365
Number of pages7
JournalNeurobiology of Aging
Issue number9
Publication statusPublished - Sep 2008


  • Alzheimer's disease
  • Genetics
  • Neuronal nitric oxide synthase (NOS1)
  • Polymorphism
  • Risk factor

ASJC Scopus subject areas

  • Clinical Neurology
  • Biological Psychiatry
  • Developmental Neuroscience
  • Neurology
  • Psychology(all)


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