TY - JOUR
T1 - Association study of a new polymorphism in the PECAM-1 gene in multiple sclerosis
AU - Sciacca, Francesca L.
AU - Ferri, Cinzia
AU - D'Alfonso, Sandra
AU - Bolognesi, Elisabetta
AU - Boneschi, Filippo Martinelli
AU - Cuzzilla, Barbara
AU - Colombo, Bruno
AU - Comi, Giancarlo
AU - Canal, Nicola
AU - Grimaldi, Luigi M.E.
N1 - Funding Information:
This work was supported by the Armenise–Harvard Foundation and partially by MURST 60%.
PY - 2000/5/1
Y1 - 2000/5/1
N2 - 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.
AB - 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.
KW - Multiple sclerosis
KW - PECAM-1
KW - Polymorphism
KW - Tetranucleotide repeats
UR - http://www.scopus.com/inward/record.url?scp=0034193065&partnerID=8YFLogxK
U2 - 10.1016/S0165-5728(99)00274-X
DO - 10.1016/S0165-5728(99)00274-X
M3 - Article
SN - 0165-5728
VL - 104
SP - 174
EP - 178
JO - Journal of Neuroimmunology
JF - Journal of Neuroimmunology
IS - 2
ER -