Candidate gene analysis of semaphorins in patients with Alzheimer's disease

Chiara Villa, Eliana Venturelli, Chiara Fenoglio, Milena De Riz, Diego Scalabrini, Francesca Cortini, Maria Serpente, Claudia Cantoni, Nereo Bresolin, Elio Scarpini, Daniela Galimberti

Research output: Contribution to journalArticlepeer-review

Abstract

Semaphorins of the Sema IV family are expressed in neurons and decreased in brains from patients with Alzheimer's disease (AD). Accumulation of an internalized form of Sema3A is associated with degeneration of neurons, making these molecules candidates for the development of AD. Single nucleotide polymorphisms (SNPs) rs36026860 and rs28469467 in Sema3A as well as rs13284404 and rs11526468 in Sema4D were analyzed in a population of 240 patients with AD compared with 222 age-matched controls. None of SNPs in Sema3A were present, either in patients or controls. The distribution of the Sema4D rs11526468 and rs13284404 SNPs was not significantly different between patients and controls, even stratifying for gender or age at onset. In silico analysis predicted that rs11526468 and rs28469467 are probably damaging. This high degree of conservation of Sema3A suggests a very important role for this protein. However, neither Sema3A nor Sema4D likely influence the susceptibility to AD.

Original languageEnglish
Pages (from-to)169-173
Number of pages5
JournalNeurological Sciences
Volume31
Issue number2
DOIs
Publication statusPublished - Apr 2010

Keywords

  • Polymorphism/Alzheimer's disease
  • Risk factor
  • Semaphorins

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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