title: Association study of a new polymorphism in the PECAM-1 gene in multiple sclerosis.
abstract: 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.
authors.affiliation: Neuroimmunology Unit, San Raffaele Scientific Institute, Milano, Italy.
authors.forename: F L
authors.initials: FL
authors.lastname: Sciacca
authors.forename: C
authors.initials: C
authors.lastname: Ferri
authors.forename: S
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: E
authors.initials: E
authors.lastname: Bolognesi
authors.forename: F
authors.initials: F
authors.lastname: Martinelli Boneschi
authors.forename: B
authors.initials: B
authors.lastname: Cuzzilla
authors.forename: B
authors.initials: B
authors.lastname: Colombo
authors.forename: G
authors.initials: G
authors.lastname: Comi
authors.forename: N
authors.initials: N
authors.lastname: Canal
authors.forename: L M
authors.initials: LM
authors.lastname: Grimaldi
mesh_terms: D000328:Adult; D001782:Blood Donors; D016022:Case-Control Studies; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009841:Oligonucleotides / Q000737:chemistry; D019408:Platelet Endothelial Cell Adhesion Molecule-1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012016:Reference Values
chemical_list: D017931:DNA Primers; D009841:Oligonucleotides; D019408:Platelet Endothelial Cell Adhesion Molecule-1