title: Frequencies of the G-protein beta3 subunit C825T polymorphism and the delta 32 mutation of the chemokine receptor-5 in patients with multiple sclerosis.
abstract: In the pathogenesis of multiple sclerosis (MS) genetic factors are known to influence autoreactive T-cell-actions like proliferation and chemotaxis across the blood-brain barrier via chemokine receptors (CCR) and G-protein coupled activating mechanisms. For the first time, we studied the frequencies of a recently described C825T polymorphism in the G-protein encoding gene for the beta3 subunit (GNB3) together with frequencies of a 32-base-pair deletion in the CCR5 gene (delta32 CCR5) in patients with MS (n = 253: relapsing-remitting (RR), n = 124 and chronic progressive course, n = 129). Apart from a trend to a reduced frequency of delta32 CCR5 and increased GNB3 825T polymorphism in primary chronic progressive patients, numbers did not reach statistical significance in any group of MS. These results could not support differences in the genetic background of MS based on that CCR5 mutation or the described GNB3 polymorphism.
authors.affiliation: Department of Neurology, University Hospital Essen, Essen, Germany. clausgert.haase.ch@bayer-ag.de
authors.forename: Claus G
authors.initials: CG
authors.lastname: Haase
authors.forename: Stephan
authors.initials: S
authors.lastname: Schmidt
authors.forename: Pedro M
authors.initials: PM
authors.lastname: Faustmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004247:DNA; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D019713:Receptors, CCR5 / Q000235:genetics*
chemical_list: C454420:G-protein beta3 subunit; D019713:Receptors, CCR5; D004247:DNA; D020962:Heterotrimeric GTP-Binding Proteins