IL-23 Receptor Gene RS1004819, RS7517847, RS11209026 Single Nucleotide Polymorphisms in Turkish Patients with Ulcerative Colitis

INTRODUCTION: It was aimed to determine whether IL-23R gene rs1004819, rs751784, and rs11209026 single nucleotide polymorphisms (SNPs) cause susceptibility to ulcerative colitis (UC) or not and to evaluate the relationship between these SNPs and the phenotypic subtypes in Turkish population.
METHODS: This case-control study included ninety-eight UC patients (85 males and 13 females) and 41 healthy controls (37 males and 4 females). Clinical and endoscopic features were recorded. Genotyping of the SNPs was analyzed by polymerase chain reaction (PCR) based on direct sequencing.
RESULTS: There was no significant difference between patients with UC and healthy controls regarding the analyzed genotype and allele frequencies (p>0.05). The TG genotype of the IL-23R gene rs7517847 SNP was associated with extensive disease (OR: 3.55; 95% CI: 1.01–12.45). The AA genotype of IL23-R-rs1004819 was more prevalent in patients who never smoked (OR: 4.16; 95% CI: 1.12–15.36), and the GA genotype was related to smoking (OR: 4.46; 95% CI: 1.60–12.48) and left-sided colitis (OR: 2.61; 95% CI: 1.18–5.77). The GG genotype of the IL23-R-rs1004819 SNP was more frequent in patients with UC who had higher scores of clinical activities.
DISCUSSION AND CONCLUSION: Although IL-23R gene rs1004819, rs7517847 and rs11209026 SNPs were not associated with the disease susceptibility, significant associations were reported between the clinical features of UC. Further studies are needed to investigate disease susceptibility to UC in different populations.