D. Franciotta et al., HLA COMPLEMENT GENE POLYMORPHISMS IN MULTIPLE-SCLEROSIS - A STUDY ON 80 ITALIAN PATIENTS, Journal of neurology, 242(2), 1995, pp. 64-68
We studied C4A, C4B, and Bf complement gene polymorphisms in 80 Italia
n patients with multiple sclerosis (MS). We observed a significantly h
igher frequency of C4AQ0 allele in patients with the relapsing-remitti
ng form of MS than in ethnically homogeneous controls. Restriction fra
gment length polymorphism analysis by Southern blotting of the C4/CYP2
1 gene complex showed that a structural gene deletion was present in 4
5% of patients with the C4AQ0 allele. Our data support the hypothesis
that relapsing-remitting MS and primarily chronic progressive MS are i
mmunogenetically distinct diseases; further, complement factor abnorma
lities typical of autoimmune diseases could influence the pathogenesis
of MS.