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Title: Polymorphisms in the interleukin-4 and IL-4 receptor genes and multiple sclerosis: a study in Spanish-Basque, Northern Irish and Belgian populations
Authors: Suppiah, V ×
Goris, An
Alloza, I
Heggarty, S
Dubois, Bénédicte
Carton, Herwig
Antigüedad, A
Mendibe, M
McDonnell, G
Droogan, A
Hawkins, S
Graham, C
Vandenbroeck, K #
Issue Date: Nov-2005
Series Title: International journal of immunogenetics vol:32 issue:6 pages:383-388
Abstract: Cytokine gene polymorphisms are known to influence susceptibility and disease course of many autoimmune diseases. Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system white matter characterized by inflammation, demyelination and axonal damage. We analysed both the well-known intronic variable number of tandem repeat (VNTR) and +33 C/T single-nucleotide polymorphisms (SNP) in the IL-4 gene, as well as the functional Q551R SNP in the IL4-R gene in a cohort of three distinct populations comprising sporadic cases and controls from the northern Spanish Basque Country and Northern Ireland, as well as family trios from Belgium. The IL-4 +33 TT genotype was decreased in primary progressive (PP) versus relapsing-remitting (RR) patients in the Northern Irish population (OR = 0.14; 95% CI = 0.018-1.09). Two-marker haplotype distribution of the VNTR and +33 C/T SNP in PP patients differed from that seen in RR patients in Northern Ireland (P = 0.03). The R allele of the Q551R SNP was significantly under-transmitted in the Belgian trio families (P = 0.003), although this effect was not seen in the Northern Irish and Basque data sets. We did not identify IL-4-IL4-R gene-gene interaction in determining susceptibility or clinical parameters of MS. Disease or genetic heterogeneity or both may be responsible for the observed lack of reproduction in different populations. Our data reinforce recent findings for a role of IL4-R in susceptibility to MS.
URI: 
ISSN: 1744-3121
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Faculty of Medicine - miscellaneous
Laboratory for Neuroimmunology
× corresponding author
# (joint) last author

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