title: Association of the IL-10 receptor A536G (S138G) loss-of-function variant with multiple sclerosis in Tunisian patients.
abstract: Interleukin-10 (IL-10), a potent anti-inflammatory T-cell cytokine, has been shown to be a regulatory cytokine that is associated with disease remission in multiple sclerosis (MS) and exerts its activity through its cognate cell surface receptor complex, IL-10 receptor 1 (IL-10R1) and IL-10R2. The purpose of this study was to investigate the IL-10R1 S138G loss-of-function polymorphism (A536G: rs3135932) for possible influence on susceptibility and outcome of MS in Tunisian patients. A total of 103 Tunisian MS patients and 160 control subjects were studied. Genomic DNA samples were extracted from leukocytes and used to investigate S138G polymorphism in IL-10R1 gene by multiplex allele-specific polymerase chain reaction. Associations between G allele [odds ratio (OR) = 5.57; 95% confidence intervals (CI) = 3.26-9.54; p = 10-7], GG genotypes [OR = 10.41; 95% CI = 2.28-47.58; p = 0.0007] and AG genotype [OR = 4.14; 95% CI = 2.16-7.93; p = 0.000016] with the risk development of MS were found. In contrast, the AA genotype seemed to be associated with protection against MS [OR = 0.17; 95% CI = 0.09-0.30; p = 10-7]. No association was found between S138G SNP and clinical features or disease activity of MS patients. In conclusion, our results suggest that S138G loss-of-function polymorphism of the IL-10R1 may be important risk factor in increasing susceptibility to MS.
authors.affiliation: Laboratory of Transmissible Diseases and Biological Active substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
authors.forename: Nadia
authors.initials: N
authors.lastname: Ben Fredj
authors.affiliation: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: Mouna
authors.initials: M
authors.lastname: Aissi
authors.affiliation: Laboratory of Microbiology and Immunology, UR02SP13, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Walid
authors.initials: W
authors.lastname: Ben Selma
authors.affiliation: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Mahmoud
authors.affiliation: Laboratory of Transmissible Diseases and Biological Active substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
authors.forename: Faten
authors.initials: F
authors.lastname: Nefzi
authors.affiliation: Department of Neurology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: Mahbouba
authors.initials: M
authors.lastname: Frih-Ayed
authors.affiliation: Laboratory of Microbiology and Immunology, UR02SP13, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Jalel
authors.initials: J
authors.lastname: Boukadida
authors.affiliation: Laboratory of Transmissible Diseases and Biological Active substances, LR99-ES27, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
authors.forename: Mahjoub
authors.initials: M
authors.lastname: Aouni
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D053701:Receptors, Interleukin-10 / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D053701:Receptors, Interleukin-10
keywords: Il-10 receptor; Tunisia; genetic polymorphism; multiple sclerosis