The M694V variant of the familial Mediterranean fever gene is associated with sporadic early-onset Alzheimer's disease in an Italian population sample

Mariarosa Arra, Enzo Emanuele, Valentina Martinelli, Piercarlo Minoretti, Marco Bertona, Diego Geroldi

Research output: Contribution to journalArticle

Abstract

Background: Inflammation is deemed to play a crucial role in the pathogenesis of Alzheimer's disease (AD). We sought to determine whether the proinflammatory M694V mutation of pyrin, the gene responsible for familial Mediterranean fever, could lead to an increased risk for AD. Methods: We compared the M694V variant genotypes in 378 sporadic AD patients and 384 healthy control subjects of Italian descent. Results: After adjustment for potential confounders, the M694V mutation was found to be associated with an increased risk for AD in subjects with an age at onset of 65 years or younger (multivariate-adjusted odds ratio, OR: 3.01, 95% confidence interval, CI: 1.24-6.72, p = 0.021), but not in patients with an age at onset older than 65 years (multivariate-adjusted OR: 0.81, 95% CI: 0.34-1.99, p = 0.847). Kaplan-Meier analysis indicated that AD patients bearing the M694V mutation presented with disease onset 7 years earlier than carriers of the wild-type genotype (log rank = 41.61, p <0.001). Conclusion: Our data indicate that the M694V sequence variant in the pyrin gene might influence the age at onset of AD in the Italian population.

Original languageEnglish
Pages (from-to)55-59
Number of pages5
JournalDementia and Geriatric Cognitive Disorders
Volume23
Issue number1
DOIs
Publication statusPublished - Dec 2006

Keywords

  • Alzheimer's disease, age at onset
  • Pyrin, single nucleotide polymorphism

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Geriatrics and Gerontology

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