Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients

Abstract

The aim of this study was to investigate the association of single-nucleotide polymorphisms (SNPs) in IL23R with ankylosing spondylitis (AS) in Chinese Han population. Six SNPs were selected for analysis in AS patients and controls. The IL23R mRNA expression was detected using RT-PCR. The differences in the genotypes of rs11209032 and the differences in the genotypes and allele frequencies of rs6677188 between cases and controls were significant. The two SNPs rs11209032 and rs6677188 were in strong linkage disequilibrium. Haplotype analysis noted a higher proportion of GAC in cases and a higher proportion of GTC in controls. The patients with AS showed an elevated level of IL23R mRNA in PBMCs. This study suggested that IL23R polymorphisms were associated with susceptibility to AS in the Chinese population and that IL23R may be involved in the development of AS.

Association of rs11209032 and rs1004819 Polymorphisms in Interleukin-23 Receptor Gene With Ankylosing Spondylitis

“…9,[36][37][38] Dong et al, 39 studied three SNPs (rs7517847, rs11209032, and rs17375018) in 291 AS patients and 312 healthy controls. Consistent with our findings, they reported no significant difference between two groups in terms of 10 reported that the differences in the genotypes of rs11209032 and the differences in the genotypes and allele frequencies of rs6677188 between cases and controls were significant. Pimentel-Santos et al 40 studied eight SNPs including rs11209032, and they reported no significant association between rs11209032 and AS.…”

“…29,30 It is suggested that IL-23 pathway may have important implications in the pathogenesis of chronic inflammatory diseases. 10 The studies concerning IL-23R gene polymorphisms, conducted on different populations, revealed a strong association with inflammatory bowel disease and psoriasis. [31][32][33] In contrast, no association was found between IL-23R gene polymorphisms with rheumatoid arthritis and systemic lupus erythematosus.…”

“…34,35 Because of the similarities between the clinical and immunological aspects of inflammatory bowel disease and AS, scientific studies investigating the impact of genetic factors on AS development focused on the relationship between AS and IL-23R gene polymorphism. 10 Previous studies have conflicting results since there is no consensus whether IL-23R gene polymorphism has a protective effect against or constitutes a risk factor for AS. 9,[36][37][38] Dong et al, 39 studied three SNPs (rs7517847, rs11209032, and rs17375018) in 291 AS patients and 312 healthy controls.…”

“…Besides, this SNP is thought to be associated with the shearing of messenger ribonucleic acid or have a function in the interaction of IL-23R and its adjacent gene IL-12RB2 by an unknown mechanism. 10 Qian et al 11 reported that the rs1004819 SNP is localized in intron and may exert its influence by regulating differential splicing of IL-23R messenger ribonucleic acid. Both polymorphisms may affect the splicing process of IL-23R messenger ribonucleic acid which may explain the relationship between these SNPs and AS.…”

Effects of Tripterygium glycosides on interleukin-17 and CD4+CD25+CD127low regulatory T-cell expression in the peripheral blood of patients with ankylosing spondylitis

“…The elevated levels of IL-17 and IL-23 in AS patients reflect their critical roles in the pathogenesis of AS (4,5). It was previously demonstrated that the carriers of single-nucleotide polymorphisms of the IL-23 receptor in the Chinese Han population are susceptible to AS (6), whereas other studies reported conflicting results (7,8). The pathogenetic mechanism underlying the development of AS has not been fully elucidated.…”