Abstract
We describe a family composed of six siblings, four of which affected by late-onset Alzheimer’s disease (LOAD). We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer’s disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α). Results showed that all subjects carried one ε4 allele of the APOE gene and those with the earliest age of onset exhibited the AA (-1082) IL-10 and the CC (-174) IL-6 genotypes. The only male had a genetic profile which also included the A (-308) TNF-α allele. These data confirm the role of the APOE gene as genetic risk factor in LOAD, and suggest that the risk of developing AD may be governed by a “susceptibility profile” involving polymorphisms in inflammatory genes.
| Original language | English |
|---|---|
| Pages (from-to) | 991-995 |
| Number of pages | 5 |
| Journal | Aging clinical and experimental research |
| Volume | 28 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Oct 1 2016 |
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Keywords
- Apolipoprotein E
- Cytokines
- Familial Alzheimer’s disease
- Genetic susceptibility
- Inflammation
- Late-onset Alzheimer’s disease
ASJC Scopus subject areas
- Ageing
- Geriatrics and Gerontology
Cite this
Familial late-onset Alzheimer’s disease : description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation. / Abbate, Carlo; Arosio, Beatrice; Cantatore, Alessandra; Viti, Niccolò; Giunco, Fabrizio; Bagarolo, Renzo Augusto; Nicolini, Paola; Gussago, Cristina; Ferri, Evelyn; Casati, Martina; Rossi, Paolo Dionigi; Casè, Alessandra; Bergamaschini, Luigi; Vergani, Carlo; Mari, Daniela.
In: Aging clinical and experimental research, Vol. 28, No. 5, 01.10.2016, p. 991-995.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial late-onset Alzheimer’s disease
T2 - description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation
AU - Abbate, Carlo
AU - Arosio, Beatrice
AU - Cantatore, Alessandra
AU - Viti, Niccolò
AU - Giunco, Fabrizio
AU - Bagarolo, Renzo Augusto
AU - Nicolini, Paola
AU - Gussago, Cristina
AU - Ferri, Evelyn
AU - Casati, Martina
AU - Rossi, Paolo Dionigi
AU - Casè, Alessandra
AU - Bergamaschini, Luigi
AU - Vergani, Carlo
AU - Mari, Daniela
PY - 2016/10/1
Y1 - 2016/10/1
N2 - We describe a family composed of six siblings, four of which affected by late-onset Alzheimer’s disease (LOAD). We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer’s disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α). Results showed that all subjects carried one ε4 allele of the APOE gene and those with the earliest age of onset exhibited the AA (-1082) IL-10 and the CC (-174) IL-6 genotypes. The only male had a genetic profile which also included the A (-308) TNF-α allele. These data confirm the role of the APOE gene as genetic risk factor in LOAD, and suggest that the risk of developing AD may be governed by a “susceptibility profile” involving polymorphisms in inflammatory genes.
AB - We describe a family composed of six siblings, four of which affected by late-onset Alzheimer’s disease (LOAD). We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer’s disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α). Results showed that all subjects carried one ε4 allele of the APOE gene and those with the earliest age of onset exhibited the AA (-1082) IL-10 and the CC (-174) IL-6 genotypes. The only male had a genetic profile which also included the A (-308) TNF-α allele. These data confirm the role of the APOE gene as genetic risk factor in LOAD, and suggest that the risk of developing AD may be governed by a “susceptibility profile” involving polymorphisms in inflammatory genes.
KW - Apolipoprotein E
KW - Cytokines
KW - Familial Alzheimer’s disease
KW - Genetic susceptibility
KW - Inflammation
KW - Late-onset Alzheimer’s disease
UR - http://www.scopus.com/inward/record.url?scp=84986296979&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84986296979&partnerID=8YFLogxK
U2 - 10.1007/s40520-015-0383-7
DO - 10.1007/s40520-015-0383-7
M3 - Article
VL - 28
SP - 991
EP - 995
JO - Aging clinical and experimental research
JF - Aging clinical and experimental research
SN - 1594-0667
IS - 5
ER -