title: The -174/-597 promoter polymorphisms in the interleukin-6 gene are not associated with susceptibility to multiple sclerosis.
abstract: Interleukin-6 (IL-6) has been implicated in the etiology of experimental autoimmune encephalomyelitis (EAE) in transgenic animals and contributes to neuropathology in humans. A single nucleotide polymorphism (SNP) at position -174 in the IL-6 gene promoter (IL-6pr) appears to influence IL-6 expression. Complete linkage disequilibrium was observed between the -174 and the -597 alleles. The aim of this study was to investigate the possible influence of -174/-597 IL-6pr polymorphisms on susceptibility to multiple sclerosis (MS). Genotyping of the -597 variant was performed by an RFLP method in 131 MS patients [88 relapsing-remitting (RR-MS), 43 secondary progressive (SP-MS)] and 157 healthy subjects. No differences were found between MS patients and controls with respect to the distribution of -597 IL-6pr genotypes. Neither was found when genotypes were analyzed according to the clinical course of the disease (RR-MS or SP-MS). Future studies focusing on complex transcriptional interactions between the IL-6pr and 3' flanking region polymorphic sites will be necessary to determine the IL-6 haplotype influence on susceptibility to MS.
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, CSIC, Calle Ventanilla 11, 18001, Granada, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Fedetz
authors.forename: F
authors.initials: F
authors.lastname: Matesanz
authors.forename: M
authors.initials: M
authors.lastname: Pascual
authors.forename: J
authors.initials: J
authors.lastname: Martín
authors.forename: O
authors.initials: O
authors.lastname: Fernández
authors.forename: M
authors.initials: M
authors.lastname: Guerrero
authors.forename: A
authors.initials: A
authors.lastname: Alcina
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics* / Q000276:immunology*; D015810:Linkage Disequilibrium / Q000235:genetics* / Q000276:immunology; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000276:immunology; D011401:Promoter Regions, Genetic / Q000235:genetics* / Q000276:immunology
chemical_list: D015850:Interleukin-6