title: T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population.
abstract: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, with disturbances of the immunological balance. As TLR9-null mice showed increased resistance to experimental autoimmune encephalomyelitis and recent genetic investigations showed that T-1237C promoter polymorphism of TLR9, commonly implicated in autoimmune diseases, induces a deregulation of its expression, we performed an association study in a Portuguese population of 165 MS patients and unrelated healthy controls. Our results show no significant association with MS and no protective effect of T-1237C concerning age of onset, disease severity or disease subtype in MS patients.
authors.affiliation: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Campus de Gualtar, 4710-057 Braga, Portugal.
authors.forename: A
authors.initials: A
authors.lastname: Carvalho
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.forename: P
authors.initials: P
authors.lastname: Maciel
authors.forename: F
authors.initials: F
authors.lastname: Rodrigues
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D011174:Portugal / Q000453:epidemiology; D011401:Promoter Regions, Genetic / Q000235:genetics; D012720:Severity of Illness Index; D051217:Toll-Like Receptor 9 / Q000235:genetics*
chemical_list: C495371:TLR9 protein, human; D051217:Toll-Like Receptor 9