Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease

Eliana Venturelli, Daniela Galimberti, Chiara Fenoglio, Carlo Lovati, Dario Finazzi, Ilaria Guidi, Barbara Corrà, Diego Scalabrini, Francesca Clerici, Claudio Mariani, Gianluigi Forloni, Nereo Bresolin, Elio Scarpini

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Interferon-γ-inducible Protein-10 (IP-10) is supposed to play a role in Alzheimer's disease (AD) development, as demonstrated by increased levels in cerebrospinal fluid from patients with AD. A mutation scanning of IP-10 exonic region was carried out in 10 patients with AD and 10 age-matched controls, demonstrating the presence of two previously reported single nucleotide polymorphisms (SNPs) in exon 4 (G → C and T → C) as well as a novel SNP in exon 2 (C → T). Exon 4 G → C and T → C allelic variants were next evaluated in a population of 279 AD patients and 251 controls, in order to determine whether their presence could influence the susceptibility towards the development of the disease. These two SNPs were in complete linkage disequilibrium. No differences in haplotype frequencies were found in AD patients as compared with controls, even stratifying according to the presence of Apolipoprotein E ε4 allele, gender or age at onset. A new protocol was developed to easily determine the C → T SNP in exon 2. A preliminary analysis revealed a very low frequency of this allelic variant (1%). Therefore, the complete association study was not carried out because the size of our population was not sufficient to draw reliable conclusions. According to these results, IP-10 does not seem to be a risk factor for AD. However, a novel rare polymorphism has been identified, which could exert a role in AD susceptibility. Thus, further studies on larger populations are needed before confidently excluding IP-10 as a susceptibility gene for AD.

Original languageEnglish
Pages (from-to)217-221
Number of pages5
JournalNeuroscience Letters
Volume404
Issue number1-2
DOIs
Publication statusPublished - Aug 14 2006

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Genetic Association Studies
Alzheimer Disease
Single Nucleotide Polymorphism
Exons
Proteins
Chemokine CXCL10
Apolipoprotein E4
Disease Susceptibility
Linkage Disequilibrium
Population Density
Age of Onset
Haplotypes
Population
Cerebrospinal Fluid
Alleles
Mutation
Genes

Keywords

  • Alzheimer's disease
  • Haplotypes
  • Interferon-γ-inducible Protein-10 (IP-10)
  • Polymorphisms
  • Risk factor

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease. / Venturelli, Eliana; Galimberti, Daniela; Fenoglio, Chiara; Lovati, Carlo; Finazzi, Dario; Guidi, Ilaria; Corrà, Barbara; Scalabrini, Diego; Clerici, Francesca; Mariani, Claudio; Forloni, Gianluigi; Bresolin, Nereo; Scarpini, Elio.

In: Neuroscience Letters, Vol. 404, No. 1-2, 14.08.2006, p. 217-221.

Research output: Contribution to journalArticle

Venturelli, E, Galimberti, D, Fenoglio, C, Lovati, C, Finazzi, D, Guidi, I, Corrà, B, Scalabrini, D, Clerici, F, Mariani, C, Forloni, G, Bresolin, N & Scarpini, E 2006, 'Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease', Neuroscience Letters, vol. 404, no. 1-2, pp. 217-221. https://doi.org/10.1016/j.neulet.2006.05.054
Venturelli, Eliana ; Galimberti, Daniela ; Fenoglio, Chiara ; Lovati, Carlo ; Finazzi, Dario ; Guidi, Ilaria ; Corrà, Barbara ; Scalabrini, Diego ; Clerici, Francesca ; Mariani, Claudio ; Forloni, Gianluigi ; Bresolin, Nereo ; Scarpini, Elio. / Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease. In: Neuroscience Letters. 2006 ; Vol. 404, No. 1-2. pp. 217-221.
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