title: IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.
abstract: We investigated the role of three polymorphisms in the IFNAR1 (SNPs 18417 and -408) and IFNAR2 (SNP 11876) genes in multiple sclerosis (MS) susceptibility and in the IFNbeta treatment response in a group of 147 patients and 210 controls undergoing interferon therapy during the last 2 years. Only the 18417 and the 11876 SNPs showed an association with disease susceptibility (p=0.001 and 0.035, respectively) although no differential genotype distribution were observed between interferon responders and non-responder MS patients. No alteration of the expression level of IFNAR-1 was observed with respect to the -408 genotypes or to interferon treatment response. These data suggest a role for the IFNAR pathway in susceptibility to MS.
authors.affiliation: Laboratorio de Investigación, Hospital Civil, pab 5 sótano. Pza del Hospital Civil s/n., 29009 Málaga, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Leyva
authors.forename: Oscar
authors.initials: O
authors.lastname: Fernández
authors.forename: Maria
authors.initials: M
authors.lastname: Fedetz
authors.forename: Eva
authors.initials: E
authors.lastname: Blanco
authors.forename: Victoria E
authors.initials: VE
authors.lastname: Fernández
authors.forename: Begoña
authors.initials: B
authors.lastname: Oliver
authors.forename: Antonio
authors.initials: A
authors.lastname: León
authors.forename: Maria-Jesus
authors.initials: MJ
authors.lastname: Pinto-Medel
authors.forename: Cristobalina
authors.initials: C
authors.lastname: Mayorga
authors.forename: Miguel
authors.initials: M
authors.lastname: Guerrero
authors.forename: Gloria
authors.initials: G
authors.lastname: Luque
authors.forename: Antonio
authors.initials: A
authors.lastname: Alcina
authors.forename: Fuencisla
authors.initials: F
authors.lastname: Matesanz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D016899:Interferon-beta / Q000627:therapeutic use*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000628:therapy*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D053633:Receptor, Interferon alpha-beta; D017471:Receptors, Interferon / Q000235:genetics*
chemical_list: C507964:IFNAR1 protein, human; C508033:IFNAR2 protein, human; D008565:Membrane Proteins; D017471:Receptors, Interferon; D053633:Receptor, Interferon alpha-beta; D016899:Interferon-beta