No association between the 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene promoter and autistic disorder

Antonio M. Persico, Roberto Militerni, Carmela Bravaccio, Cindy Schneider, Raun Melmed, Simona Trillo, Francesco Montecchi, Mark Palermo, Tiziana Pascucci, Stefano Puglisi-Allegra, Karl Ludvig Reichelt, Monica Conciatori, Flavio Keller

Research output: Contribution to journalArticle

Abstract

Plasmin, a serine protease, is involved in many physiologically relevant processes, including haemostasis, cellular recruitment during immune response, tumour growth, and also neuronal migration and synaptic remodelling. Both tissue-type and urokinase-type plasminogen activators can be efficiently inhibited by plasminogen activator inhibitor-1 (PAI-1), a protease inhibitor of the serpin family. The human PAI-1 gene is located on chromosome 7q, within or close to a region that has been linked to autism in several linkage studies. Autism seems to be characterized by altered neuronal cytoarchitecture, synaptogenesis and possibly also cellular immune responses. We began addressing the potential involvement of the PAI-1 gene in autistic disorder with this linkage/association study, assessing transmission patterns of the 4G/5G polymorphism in the PAI-1 gene promoter that was previously shown to significantly affect PAI-1 plasma levels. No linkage/association was found in 167 trios with autistic probands, recruited in Italy and in the USA. We thus found no evidence that this polymorphism, or putative functionally relevant gene variants in linkage disequilibrium with it, confer vulnerability to autistic disorder.

Original languageEnglish
Pages (from-to)99-103
Number of pages5
JournalPsychiatric Genetics
Volume11
Issue number2
DOIs
Publication statusPublished - 2001

Keywords

  • Autism
  • Macrocephaly
  • Plasminogen
  • Protease
  • Serotonin
  • Serpin family
  • Urokinase

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Genetics
  • Neuroscience(all)

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  • Cite this

    Persico, A. M., Militerni, R., Bravaccio, C., Schneider, C., Melmed, R., Trillo, S., Montecchi, F., Palermo, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K. L., Conciatori, M., & Keller, F. (2001). No association between the 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene promoter and autistic disorder. Psychiatric Genetics, 11(2), 99-103. https://doi.org/10.1097/00041444-200106000-00008