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 Leu28 --> Pro, always found on an APOE e*4 allele, was present in five of the 94 patients and in 1 of the 157 controls. The other, Thr42 --> Ala, found on an e*3 allele, was observed in only one AD patient, who also carried the Leu28 --> Pro, but in none of the controls. In the AD patient group the allele e*4(-), corresponding to Leu28 --> Pro, 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 --> Pro mutation was higher still (OR = 10.95; 95% Cl = 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. [4] and from our study. The results indicated that, compared with all the other APOE genotypes, those carrying the Leu28 --> Pro mutation were at a substantially higher risk of developing AD (OR = 4.25; 95% Cl = 1.21-14.97).

SCREENING OF TWO MUTATIONS AT EXON 3 OF THE APOLIPOPROTEIN E GENE (SITE 28 AND 42)IN A SAMPLE OF PATIENTS WITH SPORADIC LATE-ONSET ALZHEIMER'S DISEASE / Scacchi, R.; Gambina, G.; Ferrari, G.; Corbo, Rosa Maria. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - STAMPA. - 24:(2003), pp. 339-343. [10.1016/S0197-4580(02)00089-1]

SCREENING OF TWO MUTATIONS AT EXON 3 OF THE APOLIPOPROTEIN E GENE (SITE 28 AND 42)IN A SAMPLE OF PATIENTS WITH SPORADIC LATE-ONSET ALZHEIMER'S DISEASE.

CORBO, Rosa Maria
2003

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 Leu28 --> Pro, always found on an APOE e*4 allele, was present in five of the 94 patients and in 1 of the 157 controls. The other, Thr42 --> Ala, found on an e*3 allele, was observed in only one AD patient, who also carried the Leu28 --> Pro, but in none of the controls. In the AD patient group the allele e*4(-), corresponding to Leu28 --> Pro, 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 --> Pro mutation was higher still (OR = 10.95; 95% Cl = 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. [4] and from our study. The results indicated that, compared with all the other APOE genotypes, those carrying the Leu28 --> Pro mutation were at a substantially higher risk of developing AD (OR = 4.25; 95% Cl = 1.21-14.97).
2003
01 Pubblicazione su rivista::01a Articolo in rivista
SCREENING OF TWO MUTATIONS AT EXON 3 OF THE APOLIPOPROTEIN E GENE (SITE 28 AND 42)IN A SAMPLE OF PATIENTS WITH SPORADIC LATE-ONSET ALZHEIMER'S DISEASE / Scacchi, R.; Gambina, G.; Ferrari, G.; Corbo, Rosa Maria. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - STAMPA. - 24:(2003), pp. 339-343. [10.1016/S0197-4580(02)00089-1]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/98685
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 5
  • Scopus 10
  • ???jsp.display-item.citation.isi??? 9
social impact