Transforming growth factor-beta 1 (TGF-beta 1) acts as an immunosuppressant by inhibiting the expression of several pro-inflammatory cytokines. Its gene contains single nucleotide polymorphisms (SNPs) at codon +10 (T -> Q and +25 (G -> C) that appear to influence the level of expression of TGF-beta 1. We investigated these SNPs in 198 healthy controls (HC), 193 patients with Alzheimer's disease (AD) and 48 patients with mild cognitive impairment (MCI). Among the latter, after a 4-year follow-up, 21 were diagnosed as AD (MCI -> AD) while 18 did not progress (stable MCI). We observed that both the +10 C allele and the CC genotype were over-represented in AD when compared to HC. These variants significantly raised the risk of disease independently of the status of apolipoprotein E4. The CC genotype was also over-expressed in MCI, especially in MCI -> AD. These results suggest that TGF-beta I may be one of the early markers involved in the inflammatory mechanisms underlying the pathogenesis of AD. (C) 2007 Elsevier Ireland Ltd. All rights reserved.

Arosio, B., Bergamaschini, L., Galimberti, L., La Porta, C., Zanetti, M., Calabresi, C., et al. (2007). +10 T/C polymorphisms in the gene of transforming growth factor-beta 1 are associated with neurodegeneration and its clinical evolution. MECHANISMS OF AGEING AND DEVELOPMENT, 128(10), 553-557 [10.1016/j.mad.2007.07.006].

+10 T/C polymorphisms in the gene of transforming growth factor-beta 1 are associated with neurodegeneration and its clinical evolution

ANNONI, GIORGIO;
2007

Abstract

Transforming growth factor-beta 1 (TGF-beta 1) acts as an immunosuppressant by inhibiting the expression of several pro-inflammatory cytokines. Its gene contains single nucleotide polymorphisms (SNPs) at codon +10 (T -> Q and +25 (G -> C) that appear to influence the level of expression of TGF-beta 1. We investigated these SNPs in 198 healthy controls (HC), 193 patients with Alzheimer's disease (AD) and 48 patients with mild cognitive impairment (MCI). Among the latter, after a 4-year follow-up, 21 were diagnosed as AD (MCI -> AD) while 18 did not progress (stable MCI). We observed that both the +10 C allele and the CC genotype were over-represented in AD when compared to HC. These variants significantly raised the risk of disease independently of the status of apolipoprotein E4. The CC genotype was also over-expressed in MCI, especially in MCI -> AD. These results suggest that TGF-beta I may be one of the early markers involved in the inflammatory mechanisms underlying the pathogenesis of AD. (C) 2007 Elsevier Ireland Ltd. All rights reserved.
Articolo in rivista - Articolo scientifico
Alzheimer's disease; inflammation; cytokines; TGF-beta 1; gene polymorphisms
English
ott-2007
128
10
553
557
open
Arosio, B., Bergamaschini, L., Galimberti, L., La Porta, C., Zanetti, M., Calabresi, C., et al. (2007). +10 T/C polymorphisms in the gene of transforming growth factor-beta 1 are associated with neurodegeneration and its clinical evolution. MECHANISMS OF AGEING AND DEVELOPMENT, 128(10), 553-557 [10.1016/j.mad.2007.07.006].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/584
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