The T-786C NOS3 polymorphism in Alzheimer's disease: Association and influence on gene expression

Eliana Venturelli, Daniela Galimberti, Carlo Lovati, Chiara Fenoglio, Diego Scalabrini, Claudio Mariani, Gianluigi Forloni, Nereo Bresolin, Elio Scarpini

Research output: Contribution to journalArticlepeer-review


A common single nucleotide polymorphism (SNP), consisting in a T → C transition (T-786C) in endothelial nitric oxide synthase (NOS3), has been reported to be associated with vascular pathologies, but no information are available on a possible association with AD. T-786C genotype was determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) assay in an Italian population of 432 AD patients compared with 360 healthy controls, matched for ethnic background, age and gender. Peripheral blood mononuclear cells (PBMC) from 22 subjects (11 AD and 11 controls) carrying different genotypes were isolated. Total RNA was extracted and analyzed by real-time PCR. No significant differences either in allelic or genotypic frequencies of the T-786C polymorphism between AD and normal population were observed, even stratifying AD patients by age at onset, gender, or ApoE status. However, expression of NOS3 in PBMC seems to be influenced by the presence of the C mutated allele, as demonstrated by a tendency towards a decrease in mRNA levels in C carriers, assessed by real-time PCR assay. This effect was observed both in patients and controls, independently from the cognitive impairment, and is likely to be dose-dependent, being mostly evident in CC homozygous. In conclusion, the T-786C SNP does not seem to be a risk factor for sporadic AD, but its presence correlates with a trend toward lower NOS3 expression rate, possibly exerting a beneficial effect in AD by contributing to lower oxidative damage.

Original languageEnglish
Pages (from-to)300-303
Number of pages4
JournalNeuroscience Letters
Issue number3
Publication statusPublished - Jul 15 2005


  • Alzheimer's disease
  • Expression
  • NOS3
  • Polymorphism
  • Risk factor

ASJC Scopus subject areas

  • Neuroscience(all)

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