Transforming growth factor-β1 (TGF-β1) acts as an immunosuppressant by inhibiting the expression of several pro-inflammatory cytokines. Its gene contains single nucleotide polymorphisms (SNPs) at codon +10 (T → C) and +25 (G → C) that appear to influence the level of expression of TGF-β1. 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-β1 may be one of the early markers involved in the inflammatory mechanisms underlying the pathogenesis of AD.
+10 T/C polymorphisms in the gene of transforming growth factor-β1 are associated with neurodegeneration and its clinical evolution / B. Arosio, L. Bergamaschini, L. Galimberti, C. La Porta, M. Zanetti, C. Calabrese, E. Scarpini, G. Annoni, C. Vergani. - In: MECHANISMS OF AGEING AND DEVELOPMENT. - ISSN 0047-6374. - 128:10(2007 Oct), pp. 553-557.
Titolo: | +10 T/C polymorphisms in the gene of transforming growth factor-β1 are associated with neurodegeneration and its clinical evolution |
Autori: | BERGAMASCHINI, LUIGI CESARE (Secondo) VERGANI, CARLO (Ultimo) |
Parole Chiave: | Alzheimer's disease; inflammation; cytokines; TGF-beta 1; gene polymorphisms |
Settore Scientifico Disciplinare: | Settore MED/26 - Neurologia Settore MED/04 - Patologia Generale Settore MED/09 - Medicina Interna |
Data di pubblicazione: | ott-2007 |
Rivista: | |
Tipologia: | Article (author) |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.mad.2007.07.006 |
Appare nelle tipologie: | 01 - Articolo su periodico |
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