3'UTR C2370A allele of the IL-23 receptor gene is associated with relapsing-remitting multiple sclerosis.
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.
Illes
Zsolt
Z
Department of Neurology, University of Pecs, Rét u. 2, 7623 Pecs, Hungary. zsolt.illes@aok.pte.hu
Safrany
Eniko
E
Peterfalvi
Agnes
A
Magyari
Lili
L
Farago
Bernadett
B
Pozsonyi
Eva
E
Rozsa
Csilla
C
Komoly
Samuel
S
Melegh
Bela
B
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
D020413:3' Untranslated Regions; D015415:Biomarkers; D005819:Genetic Markers; D053759:Interleukin-23; D043025:Oligoclonal Bands