title: HLA complement gene polymorphisms in multiple sclerosis. A study on 80 Italian patients.
abstract: We studied C4A, C4B, and Bf complement gene polymorphisms in 80 Italian patients with multiple sclerosis (MS). We observed a significantly higher frequency of C4AQ0 allele in patients with the relapsing-remitting form of MS than in ethnically homogeneous controls. Restriction fragment length polymorphism analysis by Southern blotting of the C4/CYP21 gene complex showed that a structural gene deletion was present in 45% of patients with the C4AQ0 allele. Our data support the hypothesis that relapsing-remitting MS and primarily chronic progressive MS are immunogenetically distinct diseases; further, complement factor abnormalities typical of autoimmune diseases could influence the pathogenesis of MS.
authors.affiliation: Laboratory of Clinical Immunology, IRCCS, C. Mondino Foundation, University of Pavia, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Franciotta
authors.forename: E
authors.initials: E
authors.lastname: Dondi
authors.forename: R
authors.initials: R
authors.lastname: Bergamaschi
authors.forename: G
authors.initials: G
authors.lastname: Piccolo
authors.forename: G V
authors.initials: GV
authors.lastname: d'Eril
authors.forename: V
authors.initials: V
authors.lastname: Cosi
authors.forename: M
authors.initials: M
authors.lastname: Cuccia
mesh_terms: D016022:Case-Control Studies; D003181:Complement C4 / Q000235:genetics*; D011415:Complement Factor B / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007558:Italy; D008285:Major Histocompatibility Complex / Q000235:genetics*; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology; D012150:Polymorphism, Restriction Fragment Length; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D003181:Complement C4; D004247:DNA; D013255:Steroid 21-Hydroxylase; D011415:Complement Factor B