IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.
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.
Leyva
Laura
L
Laboratorio de Investigación, Hospital Civil, pab 5 sótano. Pza del Hospital Civil s/n., 29009 Málaga, Spain.
Fernández
Oscar
O
Fedetz
Maria
M
Blanco
Eva
E
Fernández
Victoria E
VE
Oliver
Begoña
B
León
Antonio
A
Pinto-Medel
Maria-Jesus
MJ
Mayorga
Cristobalina
C
Guerrero
Miguel
M
Luque
Gloria
G
Alcina
Antonio
A
Matesanz
Fuencisla
F
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*
C507964:IFNAR1 protein, human; C508033:IFNAR2 protein, human; D008565:Membrane Proteins; D017471:Receptors, Interferon; D053633:Receptor, Interferon alpha-beta; D016899:Interferon-beta