Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration

Chiara Villa, Laura Ghezzi, Chiara Fenoglio, Francesca Clerici, Alessandra Marcone, Luisa Benussi, Roberta Ghidoni, Salvatore Gallone, Maria Serpente, Claudia Cantoni, Elisa Ridolfi, Rossana Bonsi, Chiara Cerami, Stefano Cappa, Giuliano Binetti, Massimo Franceschi, Innocenzo Rainero, Claudio Mariani, Nereo Bresolin, Elio ScarpiniDaniela Galimberti

Research output: Contribution to journalArticlepeer-review


Transcription factor Sp4 (Specificity protein 4) levels are increased in the brain of patients with Alzheimer's disease (AD), and Sp4 colocalizes with neurofibrillary tangles. Moreover, SP4 is a susceptibility gene for bipolar disorder and schizophrenia, which share many clinical features with frontotemporal lobar degeneration (FTLD). The distribution of three tagging single nucleotide polymorphisms(SNPs)-rs9639379, rs10272006, and rs6461569-has been determined in a population of 352 patients diagnosed clinically with AD, 290 patients with FTLD, and 341 age-matched controls. Expression analysis of SP4 was performed in peripheral blood mononuclear cells (PBMC). No significant differences in either allelic or genotypic frequency of the three SNPs were found (p > 0.05), even stratifying according to gender and to the apolipoprotein E status. Significantly increased SP4 relative expression levels were observed in PBMC from patients with AD as compared with controls (7.132 ± 1.301 versus 3.396 ± 0.829, p <0.050) and a similar trend was shown in patients with FTLD compared with controls (6.525 ± 1.500 versus 3.396 ± 0.829, p = 0.073). According to these results, SP4 gene does not act as a susceptibility factor either for AD or FTLD. However, Sp4 mRNA levels are upregulated in patients, possibly resulting in an aberrant expression of downstream target genes involved in the pathogenesis of both diseases.

Original languageEnglish
Pages (from-to)537-542
Number of pages6
JournalJournal of Alzheimer's Disease
Issue number3
Publication statusPublished - 2012


  • Alzheimer's disease
  • expression
  • frontotemporal lobar degeneration
  • risk factor
  • SP4
  • specificity protein 4

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology


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