title: 3'UTR C2370A allele of the IL-23 receptor gene is associated with relapsing-remitting multiple sclerosis.
abstract: The interleukin (IL) -23/IL-17 cytokine axis has been suggested to play an important role in the development of several autoimmune diseases including multiple sclerosis. Here, we compared the prevalence of C2370A single nucleotide polymorphism (SNP) in the 3' untranslated region (3'UTR) of the IL-23 receptor (IL23R) between 223 patients with relapsing-remitting multiple sclerosis (RRMS) and 200 healthy controls. The A2370A genotype was significantly over-represented among patients with RRMS (10.8%) and RRMS exhibiting oligoclonal bands in the cerebrospinal fluid (12.9%) when compared to healthy subjects (5.50%). Multiple regression analysis revealed that presence of AA genotype provides a two-fold risk for the development of multiple sclerosis (OR=2.072, 95% CI: 0.988-4.347, p<0.05). These data indicate that IL23R represents a novel shared susceptibility gene as its association with inflammatory bowel disease (IBD) has recently been verified.
authors.affiliation: Department of Neurology, University of Pecs, Rét u. 2, 7623 Pecs, Hungary. zsolt.illes@aok.pte.hu
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Illes
authors.forename: Eniko
authors.initials: E
authors.lastname: Safrany
authors.forename: Agnes
authors.initials: A
authors.lastname: Peterfalvi
authors.forename: Lili
authors.initials: L
authors.lastname: Magyari
authors.forename: Bernadett
authors.initials: B
authors.lastname: Farago
authors.forename: Eva
authors.initials: E
authors.lastname: Pozsonyi
authors.forename: Csilla
authors.initials: C
authors.lastname: Rozsa
authors.forename: Samuel
authors.initials: S
authors.lastname: Komoly
authors.forename: Bela
authors.initials: B
authors.lastname: Melegh
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D015415:Biomarkers / Q000032:analysis / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics / Q000276:immunology; D053759:Interleukin-23 / Q000235:genetics* / Q000276:immunology*; D008297:Male; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000276:immunology*; D043025:Oligoclonal Bands / Q000134:cerebrospinal fluid; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012044:Regression Analysis; D012307:Risk Factors
chemical_list: D020413:3' Untranslated Regions; D015415:Biomarkers; D005819:Genetic Markers; D053759:Interleukin-23; D043025:Oligoclonal Bands