title: Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis.
abstract: Common genetic variants have been shown to influence disease susceptibility, disease course, or both in multiple sclerosis (MS). Several studies have suggested a role for tumor necrosis factor-alpha (TNF-alpha) in the pathogenesis of MS. Recently, it has been reported that the TNF receptor (TNFR) II plays an essential role in the pathology and progression of experimental autoimmune encephalomyelitis, an animal model of MS. To investigate whether TNFR II polymorphisms influence susceptibility and/or clinical progression of MS, genomic DNA of 321 samples of the Austrian Genetics in MS study group and DNA of 174 platelet donors, who served as healthy controls, were genotyped for five polymorphic sites in the TNFR II gene: exon 6 nucleotide (nt) 676*T-->G, exon 6 nt 783*G-->A (both are associated with non-conserved amino acid substitution), exon 10 nt 1663*G-->A, exon 10 nt 1668*T-->G, and exon 10 nt 1690*T-->C (all of which are located in the 3' non-coding region of the gene). We found a significant association between exon 10 nt 1668*T-->G polymorphism and susceptibility to MS. The other investigated nucleotide substitutions were not associated with susceptibility to or clinical parameters in MS.
authors.affiliation: Department of Neurology, University of Innsbruck, Anichstrasse, Innsbruck, Austria.
authors.forename: R
authors.initials: R
authors.lastname: Ehling
authors.forename: Ch
authors.initials: Ch
authors.lastname: Gassner
authors.forename: A
authors.initials: A
authors.lastname: Lutterotti
authors.forename: S
authors.initials: S
authors.lastname: Strasser-Fuchs
authors.forename: H
authors.initials: H
authors.lastname: Kollegger
authors.forename: W
authors.initials: W
authors.lastname: Kristoferitsch
authors.forename: M
authors.initials: M
authors.lastname: Reindl
authors.forename: T
authors.initials: T
authors.lastname: Berger
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D047889:Receptors, Tumor Necrosis Factor, Type II
chemical_list: D015703:Antigens, CD; D017931:DNA Primers; D018124:Receptors, Tumor Necrosis Factor; D047889:Receptors, Tumor Necrosis Factor, Type II