Association study of a new polymorphism in the PECAM-1 gene in multiple sclerosis

Francesca L. Sciacca, Cinzia Ferri, Sandra D'Alfonso, Elisabetta Bolognesi, Filippo Martinelli Boneschi, Barbara Cuzzilla, Bruno Colombo, Giancarlo Comi, Nicola Canal, Luigi M E Grimaldi

Research output: Contribution to journalArticlepeer-review


Genetic polymorphisms of immunorelevant genes may modulate occurrence or clinical features of multifactorial diseases. PECAM-1 is an adhesion molecule crucial for transmigration of cells from blood to tissues, but its genetic contribution to multifactorial diseases has never been investigated. We have identified and characterized a tetranucleotide repeat polymorphism within the third intron of PECAM-1. In a cohort of healthy controls (HC), we found 10 alleles. An assessment of the association of this polymorphism with multiple sclerosis (MS) showed similar allele and genotype frequencies in HC and MS patients as well as in MS patients differing for the gravity of their disease course. We conclude that although potentially able to affect organ-specific autoimmune diseases, this new PECAM-1 polymorphism, does not seem to contribute to the genetic background of MS. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)174-178
Number of pages5
JournalJournal of Neuroimmunology
Issue number2
Publication statusPublished - May 1 2000


  • Multiple sclerosis
  • PECAM-1
  • Polymorphism
  • Tetranucleotide repeats

ASJC Scopus subject areas

  • Immunology
  • Clinical Neurology
  • Immunology and Allergy
  • Neurology


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