Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease

Enzo Emanuele, Simone Lista, Roberta Ghidoni, Giuliano Binetti, Cristina Cereda, Luisa Benussi, Raffaele Maletta, Amalia C. Bruni, Pierluigi Politi

Research output: Contribution to journalArticlepeer-review


Vascular risk factors have been implicated in the pathogenesis of vascular dementia and Alzheimer's disease. The identification of a novel vascular disease susceptibility locus at 9p21.3 has recently generated great interest. In the present study, we sought to determine whether a common genetic variant (tagged by rs1333049, G/C) in the 9p21.3 locus-that has been previously linked to an increased vascular risk-might influence the susceptibility to vascular dementia (VaD) and late-onset Alzheimer's disease (LOAD). A cohort of 200 VaD patients, 407 LOAD patients and 405 cognitively healthy controls were genotyped for rs1333049 using a fluorogenic 5' nuclease assay. The frequency of the C allele of rs1333049 was significantly higher in VaD (62.2%, P= 0.005) and LOAD (60.7%, P= 0.004) patients than in controls (53.6%). After adjustment for the APOE ε4 carrier status and other vascular risk factors, the C allele of rs1333049 remained significantly associated with both VaD (OR 1.31, 95% CI 1.07-1.77, P<0.01) and LOAD (OR 1.28, 95% CI 1.04-1.55, P<0.01). Altogether, our data indicate for the first time that the C allele of rs1333049 in the vascular disease susceptibility locus is associated with VaD and LOAD, independent of traditional risk factors and the APOE ε4 genotype.

Original languageEnglish
Pages (from-to)1231-1235
Number of pages5
JournalNeurobiology of Aging
Issue number7
Publication statusPublished - Jul 2011


  • Alzheimer's disease
  • Polymorphism
  • Risk factors
  • Vascular dementia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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