title: Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1.
abstract: Genetic factors are critical in multiple sclerosis (MS), and it is conceivable that the pattern recognition receptors of the innate immune system are of pathogenic importance. We therefore developed two novel assays capable of analyzing 42 single-nucleotide polymorphisms in the human genes encoding TLR1-10, NOD1-2, DDX58, and IFIH1. Using these assays, we genotyped 963 MS patients and 960 controls, and analyzed for possible associations to MS diagnosis, clinical course, severity, and age at onset. Our results support previous findings of associations between the IFIH1-locus and MS (IFIH1-rs3747517 and IFIH1-rs1990760 trend test: P=0.002 and P=0.014, respectively).
authors.affiliation: Institute for Inflammation Research 7521, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, DK-2100, Copenhagen, Denmark. chrej@hotmail.com
authors.forename: Christian
authors.initials: C
authors.lastname: Enevold
authors.forename: Annette Bang
authors.initials: AB
authors.lastname: Oturai
authors.forename: Per Soelberg
authors.initials: PS
authors.lastname: Sørensen
authors.forename: Lars Peter
authors.initials: LP
authors.lastname: Ryder
authors.forename: Nils
authors.initials: N
authors.lastname: Koch-Henriksen
authors.forename: Klaus
authors.initials: K
authors.lastname: Bendtzen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D000071457:DEAD Box Protein 58; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D004681:Encephalomyelitis, Autoimmune, Experimental / Q000276:immunology; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007113:Immunity, Innate; D000072640:Interferon-Induced Helicase, IFIH1; D008297:Male; D051379:Mice; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D053474:Nod1 Signaling Adaptor Protein / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011971:Receptors, Immunologic; D012727:Sex Characteristics; D051193:Toll-Like Receptors / Q000235:genetics*
chemical_list: C119067:NOD1 protein, human; C429018:NOD2 protein, human; D053474:Nod1 Signaling Adaptor Protein; D053473:Nod2 Signaling Adaptor Protein; D011971:Receptors, Immunologic; D051193:Toll-Like Receptors; C452820:RIGI protein, human; C452815:IFIH1 protein, human; D000071457:DEAD Box Protein 58; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1