title: Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjögren syndrome in Hungarian population samples.
abstract: Recently, associations were found between several autoimmune diseases and functional variants of interleukin-23 receptor (IL23R) gene; here, we studied the possible association of nine polymorphisms of IL23R with ankylosing spondylitis (AS) and with Sjögren syndrome (SS). In our study, we genotyped groups of patients with AS (n = 206), SS (n = 156) and healthy controls (n = 235) for rs11805303, rs10889677, rs1004819, rs2201841, rs11209032, rs11209026, rs10489629, rs7517847 and rs7530511 variants using PCR-RFLP methods. We observed significant increase in the carriage of the T allele of rs11805303 and the A allele of rs1004189 in the AS group compared with the controls. For the rs10889677 variant, the prevalence of the AA genotype and for the rs2201841, the CC genotype showed a more than two-fold increase in the AS group compared with the controls. By contrast, the GA heterozygous genotype of rs11209026 variant showed a significant decrease in AS patients compared with controls. Haplotype analysis revealed association of four IL23R haplotypes with AS. There was no difference in the distribution of any of the examined IL23R variants between controls and SS patients. In conclusion, we confirmed the susceptibility or protective associations of IL23R polymorphisms with AS in a Hungarian population and first demonstrated the involvement of the rs11805303 intronic single nucleotide polymorphisms, which was tested so far only for other autoimmune diseases.
authors.affiliation: Department of Medical Genetics, University of Pécs, Pécs.
authors.forename: E
authors.initials: E
authors.lastname: Sáfrány
authors.forename: B
authors.initials: B
authors.lastname: Pazár
authors.forename: V
authors.initials: V
authors.lastname: Csöngei
authors.forename: L
authors.initials: L
authors.lastname: Járomi
authors.forename: N
authors.initials: N
authors.lastname: Polgár
authors.forename: C
authors.initials: C
authors.lastname: Sipeky
authors.forename: I F
authors.initials: IF
authors.lastname: Horváth
authors.forename: M
authors.initials: M
authors.lastname: Zeher
authors.forename: G
authors.initials: G
authors.lastname: Poór
authors.forename: B
authors.initials: B
authors.lastname: Melegh
mesh_terms: D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D012859:Sjogren's Syndrome / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000235:genetics*
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin