Data di Pubblicazione:
2006
Abstract:
Interferon-gamma-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 4 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.
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 4 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.
Tipologia CRIS:
1.1 Articolo in rivista
Elenco autori:
Venturelli, E; Galimberti, D; Fenoglio, C; Lovati, C; Finazzi, Dario; Guidi, I; Corra, B; Scalabrini, D; Clerici, F; Mariani, C; Forloni, G; Bresolin, N; Scarpini, E.
Link alla scheda completa:
Pubblicato in: