J Neuroimmunol 2003 Apr;137(1-2):134-9
Kantarci OH, Schaefer-Klein JL, Hebrink DD, Achenbach SJ, Atkinson EJ, McMurray CT, Weinshenker BG.
Department of Neurology, Mayo Clinic and Foundation, 200 First Street, SW, 55905, Rochester, MN, USA
Previous studies have suggested a role for interleukin-4 gene (IL4) in susceptibility to multiple sclerosis (MS) as well as other autoimmune diseases.
We screened the promoter region, exons 1-4 and their splice sites for polymorphisms and tested the association between novel polymorphisms E1(33)*C-->T and I3(2580)*C-->A, and the established 5'(-523)*C-->T and I3(709)*VNTR polymorphisms with susceptibility to, age of onset in, and course and severity of MS in sporadic cases.
I3(709)*VNTR was associated with susceptibility to MS (p=0.004) due to a dearth of heterozygotes in patients (29/122; 23.8%) compared to controls (91/244; 37.3%).
Homozygotes for the uncommon I3(709)*allele-2 may have increased susceptibility (p=0.044; OR=5.17, 95% CI: 0.83-54.95) as might carriers for the extended haplotypes 5'(-523)*T/E1(33)*T/I3(709)*allele-2/I3(2580)*C (p=0.003; OR: 3.75, 95% CI: 1.18-11.93) or 5'(-523)*C/E1(33)*C/I3(709)*allele-1/I3(2580)*A (p=0.004; OR: 4.22, 95% CI: 1.22-14.54).
We could not confirm the previously reported association between carriage of I3(709)*allele-2 and older age of onset.
However, we found a trend for association between the homozygous state for this allele and older age of onset.