TY - JOUR
T1 - A population-based study of IL4 polymorphisms in multiple sclerosis
AU - Kantarci, Orhun H.
AU - Schaefer-Klein, Janet L.
AU - Hebrink, David D.
AU - Achenbach, Sara J.
AU - Atkinson, Elizabeth J.
AU - McMurray, Cynthia T.
AU - Weinshenker, Brian G.
N1 - Funding Information:
This study has been supported by the National MS Society, grant no.: RG-2870 to Dr Weinshenker. Dr. McMurray is supported by the Mayo Foundation, grant no.: DK 43694-01A2 and National Institutes of Health grant no.: MH-56207. Dr. Kantarci was supported by an advanced fellowship award granted by the National MS Society.
PY - 2003/4
Y1 - 2003/4
N2 - 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.
AB - 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.
KW - Interleukin-4
KW - Multiple sclerosis
KW - Polymorphism
KW - Prognosis
KW - Severity
KW - Susceptibility
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U2 - 10.1016/S0165-5728(03)00046-8
DO - 10.1016/S0165-5728(03)00046-8
M3 - Article
C2 - 12667657
AN - SCOPUS:0037376325
SN - 0165-5728
VL - 137
SP - 134
EP - 139
JO - Journal of neuroimmunology
JF - Journal of neuroimmunology
IS - 1-2
ER -