Recent reports have shown association between CYP2D6 polymorphism and
neuronal degenerative diseases such as Parkinson's disease. We investi
gated the association between this polymorphism and the risk for devel
oping multiple sclerosis (MS). Leucocyte DNA from 118 MS patients and
a control group of 200 unrelated healthy individuals was studied for t
he occurrence of 8 different CYP2D6 allelic variants by using allele-s
pecific PCR amplification, XbaI and EcoRI RFLP analyses. The frequenci
es for these allelic variants in the MS and control groups were, respe
ctively: CYP2D6wt 75.0% and 79.3%, CYP2D6A 0.4% and 1.3%, CYP2D6B 11.4
% and 12.0%, CYP2D6C 4.2% and 2.0%, CYP2D6D 3.0% and 2.3%, CYP2D6L 0.8
% and 0.3%, CYP2D6L2 5.1% and 3.0%, The frequencies of subjects with h
igh CYP2D6 activity (those carrying two or more functional genes) were
77.1% and 73.5% in MS and control groups. The frequencies of subjects
with absent CYP2D6 activity (those lacking functional genes) were 3.4
% and 4.5% in MS and control groups, respectively. These results indic
ate that mutations at the CYP2D6 gene do not seem to be a factor in de
termining susceptibility to MS.