+10 T/C polymorphisms in the gene of transforming growth factor-β1 are associated with neurodegeneration and its clinical evolution

Beatrice Arosio, Luigi Bergamaschini, Lorenza Galimberti, Caterina La Porta, Mariella Zanetti, Carmen Calabresi, E. Scarpini, Giorgio Annoni, Carlo Vergani

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)553-557
Number of pages5
JournalMechanisms of Ageing and Development
Volume128
Issue number10
DOIs
Publication statusPublished - Oct 2007

Keywords

  • Alzheimer's disease
  • Cytokines
  • Gene polymorphisms
  • Inflammation
  • TGF-β1

ASJC Scopus subject areas

  • Ageing
  • Biochemistry
  • Developmental Biology
  • Developmental Neuroscience

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