HLA complement gene polymorphisms in multiple sclerosis. A study on 80 Italian patients.
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.
Franciotta
D
D
Laboratory of Clinical Immunology, IRCCS, C. Mondino Foundation, University of Pavia, Italy.
Dondi
E
E
Bergamaschi
R
R
Piccolo
G
G
d'Eril
G V
GV
Cosi
V
V
Cuccia
M
M
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
D003181:Complement C4; D004247:DNA; D013255:Steroid 21-Hydroxylase; D011415:Complement Factor B