Screening of two mutations at exon 3 of the apolipoprotein E gene (sites 28 and 42) in a sample of patients with sporadic late-onset Alzheimer?s disease. (Articolo in rivista)

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  • Screening of two mutations at exon 3 of the apolipoprotein E gene (sites 28 and 42) in a sample of patients with sporadic late-onset Alzheimer?s disease. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Alternative label
  • Scacchi R. 1, Gambina G. 2, Ferrari G.2, Corbo R.M. 1, 3 (2003)
    Screening of two mutations at exon 3 of the apolipoprotein E gene (sites 28 and 42) in a sample of patients with sporadic late-onset Alzheimer?s disease.
    in Neurobiology of aging
    (literal)
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  • Scacchi R. 1, Gambina G. 2, Ferrari G.2, Corbo R.M. 1, 3 (literal)
Pagina inizio
  • 339 (literal)
Pagina fine
  • 343 (literal)
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  • This is an original paper published on a journal edited by Elsevier, with an international Editorial Board, whose interests range from Genetics to Neurology. In 2002 its impact factor was 6.2. (literal)
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  • 24 (literal)
Rivista
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  • R.M. Corbo è a disposizione dell'IBPM (literal)
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  • The sporadic late-onset form of Alzheimer's disease (AD) is a complex disorder whose pathogenesis is determined by several different genetic and not-genetic causes. At present, the study of the variation at the genes involved in the pathogenesis of complex diseases is an approach that would enhance the accuracy of diagnosis and ensure appropriate treatment. At this aim we have performed an in-depth investigation on the Apolipoprotein E (APOE) gene in a sample of patients with sporadic late-onset Alzheimer's disease (AD) and related controls, in order to see whether any further variation in this gene could be associated with the onset of the disease. Our investigation revealed two different mutations in the exon 3 of the gene. One, the Leu28 à Pro, was present in 5 of the 94 patients examined and in 1 of the 157 controls. The other, Thr42 à Ala, was observed in only one AD patient, but in none of the controls. The present results indicated that, compared with all the other APOE genotypes, those carrying the Leu28 à Pro mutation were at a substantially higher risk of developing AD (OR = 10.95 ; 95% CI = 1.25 - 95.75 p = 0.015 ). These results provide a useful tool to increase the precision of an early diagnosis. In this way, any therapy could be initiated early in time, with potential advantages for curing the disease. (literal)
Note
  • ISI Web of Science (WOS) (literal)
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  • 1. CNR (IBPM, ex Centro di Genetica Evoluzionistica), 2. Verona ASL, 3. Uni Sapienza (Dipartimento di Genetica e Biologia Molecolare) (literal)
Titolo
  • Screening of two mutations at exon 3 of the apolipoprotein E gene (sites 28 and 42) in a sample of patients with sporadic late-onset Alzheimer?s disease. (literal)
Abstract
  • The search for further variation at the APOE gene in a sample of patients with sporadic late-onset Alzheimer's disease (AD) and related controls revealed two different mutations in the exon 3 of the gene. One, the Leu28Pro, always found on an APOE e*4 allele, was present in 5 of the 94 patients and in 1 of the 157 controls. The other, Thr42Ala, found on an e*3 allele, was observed in only one AD patient, who also carried the Leu28Pro, but in none of the controls. In the AD patient group the allele e*4 -, corresponding to Leu28Pro, showed a frequency of 0.027, compared with only 0.003 in the controls. Compared to E3/3 and E3/2 genotypes, the risk of developing AD associated with the genotypes carrying the e*4 allele, the well-established risk allele for AD onset, was observed to be high (OR = 3.16; 95% CI = 1.62 - 6.20 ; p = 0.0009 ), but the risk associated with genotypes carrying the Leu28 à Pro mutation was higher still (OR = 10.95 ; 95% CI = 1.25 - 95.75 p = 0.015 ). The higher risk associated with this mutation was assessed by meta-analysis carried out using the data of three patient groups from a previously published study (Kamboh et al. 1999) and from our study. The results indicated that, compared with all the other APOE genotypes, those carrying the Leu28Pro mutation were at a substantially higher risk of developing AD (OR = 4.25, 95% CI = 1.21 - 14.97). (literal)
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