Interleukin-23 Receptor Polymorphisms Research Articles

Association of IL-4 and IL-4R Polymorphisms with Litter Size Traits in Pigs.

Simple SummaryThe IL-4 and IL-4R cytokine genes are responsible for immune response in the reproductive system and are related to embryonic implantation and fetal survival during pregnancy in females. However, to date, their effects on litter size traits in pigs have been not elucidated. Therefore, the present study was conducted to verify the porcine IL-4 and IL-4R polymorphisms and assess how they affect litter size traits in commercial pigs. The findings suggested that the porcine IL-4 g.134993898T > C and IL-4R c.1577A > T polymorphisms were associated with the litter size traits. Therefore, the porcine IL-4 and IL-4R genes may be potentially effective genetic markers to improve the litter size traits in pigs.The interleukin-4 (IL-4) and interleukin-4 receptor (IL-4R) are cytokines that are involved in the immune and reproductive systems. This study aimed to verify the polymorphisms in the porcine IL-4 and IL-4R genes and to assess their effects on litter size traits in commercial pigs. Single nucleotide polymorphisms (SNPs) in the porcine IL-4 and IL-4R genes were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. A non-coding SNP of IL-4 g.134993898T > C and a non-synonymous SNP of IL-4R c.1577A > T (amino acid change at position 526, Q526L) were found to be segregating in Landrace sows. The IL-4 g.134993898T > C polymorphism was significantly associated with the number of piglets weaned alive (NWA) trait. The IL-4R c.1577A > T polymorphism was significantly associated with the number born alive (NBA) and NWA traits. Moreover, the accumulation of favorable alleles of these two SNP markers revealed significant associations with the NBA, NWA, and mean weight of piglets at weaning (MWW) traits. These findings indicate that the porcine IL-4 and IL-4R genes may contribute to the reproductive traits of pigs and could be used as candidate genes to improve litter size traits in the pig breeding industry.

Association between Interleukin-23 Receptor Polymorphism and Asthma

“Asthma”: A public health problem mainly effects lung ,the main character is inflammation the lead to narrowing of the bronchi creating difficulty breathing ,its multifactorial disorder and genetic predisposing one of the etiological and risk factor .one of the genetic study is focusing on signaling through” IL23 receptor (IL23R)”. IL-23R is important for signaling of IL-23. Which considered an important role in immune-regulatory pathway. The present study aims to evaluate IL-23R gene polymorphism and its role to increases or decreases tendency to asthma. In this case-control study fifty patients with asthma compared with control group, fifty seemingly healthy the diagnosis made in by specialist consultation at Marjan Medical Hospital in Hilla, Iraq. Analysis of data revealed there are substantial difference in frequency of IL-23 R (rs11209026) G>A polymorphism between asthmatic patients and controls ,opposite to this result ,the another polymorphism (rs1884444) in the same receptor proofed no substantial difference (between) asthmatic patients and (controls) .The results of the work concluded, that patients with GG allele for IL-23 R (rs11209026) have increased susceptibility to asthma compared with GA allel. Also, the present study suggests that IL-23R (rs1884444) is not considered risk factor for asthma. How to Cite this Article Pubmed Style AL-Bazoon AAK, Jouda TM, Jasim AH. between Interleukin-23 Receptor Polymorphism and Asthma. SRP. 2020; 11(10): 109-113. doi:10.31838/srp.2020.10.18 Web Style AL-Bazoon AAK, Jouda TM, Jasim AH. between Interleukin-23 Receptor Polymorphism and Asthma. http://www.sysrevpharm.org/?mno=10198 [Access: March 29, 2021]. doi:10.31838/srp.2020.10.18 AMA (American Medical Association) Style AL-Bazoon AAK, Jouda TM, Jasim AH. between Interleukin-23 Receptor Polymorphism and Asthma. SRP. 2020; 11(10): 109-113. doi:10.31838/srp.2020.10.18 Vancouver/ICMJE Style AL-Bazoon AAK, Jouda TM, Jasim AH. between Interleukin-23 Receptor Polymorphism and Asthma. SRP. (2020), [cited March 29, 2021]; 11(10): 109-113. doi:10.31838/srp.2020.10.18 Harvard Style AL-Bazoon, A. A. K., Jouda, . T. M. & Jasim, . A. H. (2020) between Interleukin-23 Receptor Polymorphism and Asthma. SRP, 11 (10), 109-113. doi:10.31838/srp.2020.10.18 Turabian Style AL-Bazoon, Anfal A. K., Thanaa M. Jouda, and Ahmed H. Jasim. 2020. between Interleukin-23 Receptor Polymorphism and Reviews in Pharmacy, 11 (10), 109-113. doi:10.31838/srp.2020.10.18 Chicago Style AL-Bazoon, Anfal A. K., Thanaa M. Jouda, and Ahmed H. Jasim. Association between Interleukin-23 Receptor Polymorphism and Asthma. Systematic Reviews in Pharmacy 11 (2020), 109-113. doi:10.31838/srp.2020.10.18 MLA (The Modern Language Association) Style AL-Bazoon, Anfal A. K., Thanaa M. Jouda, and Ahmed H. Jasim. Association between Interleukin-23 Receptor Polymorphism and Asthma. Systematic Reviews in Pharmacy 11.10 (2020), 109-113. Print. doi:10.31838/srp.2020.10.18 APA (American Psychological Association) Style AL-Bazoon, A. A. K., Jouda, . T. M. & Jasim, . A. H. (2020) between Interleukin-23 Receptor Polymorphism and Reviews in Pharmacy, 11 (10), 109-113. doi:10.31838/srp.2020.10.18

The association between genetic polymorphisms of interleukin 23 receptor gene and the risk of rheumatoid arthritis: An updated meta-analysis

This meta-analysis was conducted to confirm whether seven single nucleotide polymorphisms (SNPs) of interleukin-23 receptor (IL23R) gene are associated with rheumatoid arthritis (RA) susceptibility. RevMan version 5.3 was used to calculate statistical data. Sixteen articles involving 11,816 RA patients and 14,268 healthy controls were included in this meta-analysis. A significant association was identified between the rs11209026 polymorphism and RA susceptibility in Caucasians (AA vs. GG: OR = 1.78, 95% CI = 1.02–3.10, P = .04; AA vs. AG + GG: OR = 1.77, 95% CI = 1.02–3.08, P = .04). Additionally, our result showed that the G allele of IL23R/rs10489629 had a significantly increased frequency in RA patients of Caucasians and Asians (A vs. G: OR = 0.92, 95% CI = 0.88–0.97, P = .002; OR = 0.62, 95% CI = 0.44–0.87, P = .006, respectively). Furthermore, the meta-analysis revealed a significant association between the rs1343151 polymorphism and RA susceptibility in Caucasians (C vs. T: OR = 0.91, 95% CI = 0.87–0.96, P = .0004). Our meta-analysis confirmed the IL23R gene might be treated as a susceptible factor for RA.

Are genetic variations in IL-21-IL-23R-IL-17A cytokine axis involved in a pathogenic pathway of rheumatoid arthritis? Bayesian hierarchical meta-analysis.

Inflammatory cytokines have been established to be involved in the pathogenesis of rheumatoid arthritis (RA). The genetic polymorphisms in the interleukin (IL) 23 receptor (IL23R), IL21, and IL17 have been associated with RA risk. However, there is no conclusive understanding of the genes encoding the immunoinflammatory IL-21-IL-23R-IL-17A pathway in RA aetiopathogenesis. This meta-analysis was conducted to attain this goal. A comprehensive literature search was conducted in Scopus and PubMed to look for the relevant case-control studies up until 2018. A Bayesian hierarchical meta-analysis was carried out to assess the association between the polymorphisms and the risk of RA. The association was estimated by calculating the logarithm of odds ratio (Log OR) and 95% credible interval (95% CI). In this meta-analysis, 37 case-control studies comprising 23,506 RA patients and 25,984 healthy individuals were found for analyzing the IL23R, IL21, and IL1A gene polymorphism and risk of RA. In the IL23R gene rs1343151 SNP, the minor A allele significantly increased the risk of RA (Log OR = 0.085, 95% CI = 0.008, 0.156). Moreover, the minor AA genotype was significantly associated with increased RA risk (Log OR = 0.176, 95% CI = 0.028, 0.321). In addition, the C allele of the IL23R gene rs2201841 SNP significantly decreased the disease risk (Log OR = -0.544, 95% CI = -1.0, -0.065). Since Bayesian meta-analysis is a powerful strategy to pool the data, it can be mentioned that genetic polymorphisms of IL23R, but not IL21 and IL17A, are involved in susceptibility to RA.

Genetic Association between Interleukin-4 Receptor Polymorphisms and Cancer Susceptibility: A Meta-Analysis Based on 53 Case-Control Studies.

Polymorphisms in interleukin-4 receptor (IL-4R) gene have been reported susceptible to a variety of cancer types, nevertheless, data from these publications remained inconsistent and controversial. We further performed a comprehensive meta-analysis to present a precise estimation of its relationship. Extensive retrieve was performed in PubMed, Google Scholar and Web of Science up to May 25, 2018. Odds ratios (ORs) and 95% confidence intervals (CIs) were conducted to evaluate the overall strength of the associations in five genetic models, as well as in subgroup analyses, stratified by ethnicity, cancer type or source of control. Q-test, Egger's test and Begg's funnel plot were applied to evaluate the heterogeneity and publication bias. In-silico analysis was managed to demonstrate the relationship of IL-4R expression correlated with cancer tissues. Finally, 31 publications including 53 case-control studies were enrolled, with 24,452 cases and 24,971 controls. After a comprehensive analysis, no significant evidence was revealed for the association between four IL-4R polymorphisms (rs1801275, rs1805010, rs1805015, rs2057768) and cancer susceptibility in the overall population, as well as the subgroup analysis stratified by ethnicity, cancer type, the genotyping method or the source of control. To sum up, no evidence was identified between IL-4R polymorphisms and overall cancer susceptibility. Further well-designed studies with large sample sizes will be continued on this issue of interest.

Relationship between IL-23R rs11209026 Gene Polymorphism and Susceptibility to Acute Coronary Syndrome

Background: Several studies illustrated that IL-23/Th17 axis could be an important pro-inflammatory pathway in atherosclerosis. As a key element in this inflammatory mechanism, interleukin-23 receptor (IL-23R) may play a critical role in the pathological process of atherosclerosis. Single nucleotide polymorphisms (SNPs) in IL-23R have recently been consistently found to be associated with atherosclerosis diseases. However, its association with acute coronary syndrome (ACS) is still indistinct. Here, we discussed whether genetic polymorphisms in IL-23R (rs11209026 G/A) were associated with susceptibility to ACS. Methods: Among 160 patients with ACS, it includes 80 patients with unstable angina pectoris (UAP), 80 patients with myocardial infarction (MI), and 80 control subjects were selected randomly. The polymorphisms of IL-23R (rs11209026 G/A) were analyzed by the Sanger method. Results: Data showed that percentages of rs11209026 AG genotypes were significantly lower in ACS group (including: UAP and MI) than in controls (odds ratio [OR]= 0.324, 95% confidence interval [CI]: 0.148 - 0.712, p = 0.005; OR = 0.351, 95% CI: 0.135 - 0.910, p = 0.031; OR = 0.303, 95% CI: 0.112 - 0.817, p = 0.018, respectively). Furthermore, there was no correlation between rs11209026 G/A SNP and dyslipidemia-associated ACS. Conclusions: The variant of the rs11209026 polymorphism in IL-23R gene might decrease the risk of ACS, and these data suggest that AG genotype of the rs11209026 G/A polymorphism may act as a protective factor for acute coronary syndrome and subtype of ACS.

The association between genetic polymorphisms of the interleukin-23 receptor gene and susceptibility to uveitis: a meta-analysis

BackgroundUveitis is an eye inflammatory disease, which is sometimes associated with underlying systemic disease. Interleukin-23 plays an important role in autoimmune disease. The aim of this meta-analysis was to evaluate the association between the interleukin-23 receptor (IL-23R) and susceptibility to uveitis.MethodsPublished literature from PUBMED and EMBASE were retrieved. Seven studies were included in this meta-analysis, covering a total of 1309 cases of uveitis and 2400 controls. Meta-analyses were conducted on the associations between uveitisand rs7517847, rs17375018, and rs11209032 polymorphisms in the IL-23R gene.ResultsThere were no significant associations between IL-23R polymorphisms and uveitis with regard to the following alleles: for G allele vs. T allele of rs7517847, OR 1.01, 95% CI 0.92–1.12, P = 0.83; for A allele vs. G allele of rs17375018, OR 0.68, 95% CI 0.47–0.99, P = 0.05; rs11209032 OR 1.12, 95% CI 0.84–1.51, P = 0.43. In contrast, there were significant associations between the AA + AG gene versus GG gene of rs17375018 and the AA gene versus AG + GG gene of rs11209032 polymorphism with uveitis (OR 0.59, 95% CI 0.35–0.99, P = 0.04; OR 1.32, 95% CI 1.10–1.59, P = 0.003).ConclusionsThis meta-analysis suggests that each allele of IL-23R, including rs7519847, rs17375018 and rs11209032 was negatively associated with uveitis. However, homozygote models, including the rs17375018 GG genotype and rs11209032 AA genotype, were significantly associated with uveitis.

Association between IL-4 and IL-4R Polymorphisms and Periodontitis: A Meta-Analysis

Background. Previous studies have revealed that gene polymorphisms of inflammatory factors may influence the development or progression of periodontitis, a main cause of tooth loss in adults; however, due to limitations of individual studies, inconsistent findings were reported. Objective. To meta-analytically investigate the relationship between periodontitis and the Interleukin-4 (IL-4) and Interleukin-4 receptor (IL-4R) gene polymorphisms. Methods. Databases were searched for relevant case-control studies. After study selection based on the predefined selection criteria, methodological quality assessment and data extraction were conducted independently by two reviewers, before subsequent statistical analyses. Results. 37 studies involving 4,385 patients and 5,168 controls were included. All the studied IL-4 polymorphisms were not significantly associated with periodontitis, except the -33C/T (CT versus CC: OR = 0.50, 95% CI = 0.28–0.88) associated with reduced AgP susceptibility. Positive association was found between IL-4R Q551 polymorphism and periodontitis susceptibility in three genetic models (R versus Q: OR = 1.59, 95% CI = 1.14–2.22; QR versus QQ: OR = 1.84, 95% CI = 1.21–2.80; RR + QR versus QQ: OR = 1.82, 95% CI = 1.22–2.72). Conclusions. A positive association exists between the IL-4R Q551R polymorphism and occurrence of CP. The IL-4 -33 CT genotype is negatively associated with the occurrence of AgP.

Gene polymorphisms of interleukin-23 receptor in Uygur and Han Chinese patients with ulcerative colitis

Gene polymorphisms of interleukin-23 receptor in Uygur and Han Chinese patients with ulcerative colitis

IL-23R mutation is associated with ulcerative colitis: A systemic review and meta-analysis.

ObjectivesSince a genome-wide association study revealed that Interleukin-23 receptor (IL-23R) gene is a candidate gene for Ulcerative Colitis (UC), many studies have investigated the association between the IL-23R polymorphisms and UC. However, the results were controversial. The aim of the study was to determine whether the IL-23R polymorphisms confer susceptibility to UC.MethodsA systematic literature search was carried out to identify all potentially relevant studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of association.ResultsA total of 33 studies in 32 articles, including 10,527 UC cases and 15,142 healthy controls, were finally involved in the meta-analysis. Overall, a significant association was found between all UC cases and the rs11209026A allele (OR = 0.665, 95% CI = 0.604~0.733, P < 0.001). Similarly, meta-analyses of the rs7517847, rs1004819, rs10889677, rs2201841, rs11209032, rs1495965, rs1343151 and rs11465804 polymorphisms also indicated significant association with all UC (all P < 0.05). Stratification by ethnicity revealed that the rs11209026, rs7517847, rs10889677, rs2201841 andrs11465804 polymorphisms were associated with UC in the Caucasian group, but not in Asians, while the rs1004819 and rs11209032 polymorphisms were found to be related to UC for both Caucasian and Asian groups. However, subgroup analysis failed to unveil any association between the rs1495965 and rs1343151 polymorphisms and UC in Caucasians or Asians.ConclusionsThe meta-analysis suggests significant association between IL-23R polymorphisms and UC, especially in Caucasians.

Palm dermatoglyphs and interleukin-4 receptor polymorphisms in asthma

Single nucleotide polymorphisms (SNPs) in the interleukin-4 receptor (IL-4R) gene have been identified as having a close association with asthma severity in different populations. In our previous studies, a close association between asthma and a distinctive palm dermatoglyphic pattern was observed; however, the clinical implication and underlying genetic mechanisms of this particular palm pattern have not been clarified. Whether this particular palm pattern is associated with asthma severity and IL-4R SNPs was assessed in the present study. A case cohort study was conducted in 400 patients with allergic asthma and in 200 healthy controls. DNA was extracted from peripheral blood leukocytes for analysis of 11 IL-4R SNPs associated with asthma via polymerase chain reaction. There are two SNPs, rs1805012 and rs3024608, which are associated with asthma (rs1805012, dominant model; P=0.03 and rs3024608, codominant model; P=0.029), and two SNPs, rs1805010 and rs3024608, which are associated with the positive palm pattern (rs1805010, log-additive model; P=0.031 and rs3024608, codominant model; P=0.016). The SNP of rs3024608 is associated with asthma and the positive palm pattern. Thus, genetic variation in IL-4R may be associated with the development of asthma and the distinctive palm pattern; however, further investigations are required to identify the connection between asthma and palm dermatoglyphic patterns.

Analysis of the association of single nucleotide polymorphisms of interleukin-23 receptor (IL-23R) and inflammatory bowel disease in a Chinese Han cohort.

Inflammatory bowel disease (IBD) is a chronic, complex genetic disease with rapidly increasing prevalence in China. The interactions of genetic, environmental, and microbial factors contribute to the development of IBD, however, the precise etiologies of IBD are not well understood yet. Interleukin-23 receptor (IL-23R) encodes a subunit of receptor for IL-23, which is an important proinflammatory cytokine. In this study, we investigated the relationship between the single nucleotide polymorphism (SNP) of IL-23R gene and IBD in Chinese Han population. We genotyped three nonsynonymous IL-23R SNPs with amino acid changes (rs11209026, p.Arg381Gln; rs41313262 p.Val362Ile and rs11465797 p.Thr175Asn) in 198 patients with IBD (124 UC and 74 CD) and 100 healthy controls. The prevalence of the A allele in IL-23R Arg381Gln of CD appeared less than controls, but it was not statistically significant (2.70% vs. 6.00%, p > 0.05). There was no statistical difference between UC and controls (5.65% vs. 6.00%, p = 0.91). The p.Val362Ile variant was present in 2.42% of UC patients, in 2.70% of CD patients, which was similar in the control (2.00%). There was no statistical difference among these three groups. We did not detect Thr175Asn (rs11465797 c.524 C>A) in all the three groups. In conclusion, our study demonstrated that the p.Val362Ile and Arg381Gln were not associated with susceptibility to IBD in Chinese Han population.

Association of IL23R polymorphism (rs7530511) with intracerebral hemorrhage in Korean population.

Cytokines and their receptors are involved in the development of intracerebral hemorrhage (ICH). Interleukin 23 receptor (IL23R) has been implicated in numerous inflammatory and immune diseases. In this study, we investigated whether single nucleotide polymorphisms (SNPs) of IL23R were associated with the susceptibility of ICH in Korean population. Two coding region SNPs (cSNPs) [rs1884444 (Gln3His), and rs7530511 (Leu310Pro)] were selected, and genotyped in 167 ICH patients and 377 control subjects using direct sequencing. Of two cSNPs, only rs7530511 showed a significant association with ICH in codominant model (C/T vs. C/C, P=0.017, odds ratio (OR) 4.15, 95% confidential interval (CI) 1.27-13.58). Allele frequency analysis also revealed that rs7530511 was associated with ICH (P=0.023, OR 3.68, 95% CI 1.19-11.32). The frequency of the T allele was increased in the ICH patients, compared to the control subjects. These results suggest that IL23R may contribute to the development of ICH.

Association of IL-23R Polymorphisms (rs6682925, rs10889677, rs1884444) With Cancer Risk: A PRISMA-Compliant Meta-Analysis.

Although interleukin (IL)-23 receptor (IL-23R) plays an important role in the pathogenesis of multiple cancers, its association with cancer risk is inconsistent across different studies. We therefore conducted a meta-analysis with the aim of resolving the relationship among the 3 common polymorphisms of IL-23R (rs6682925, rs10889677, rs1884444) and cancer risk.Case-control studies evaluating the association between IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) and cancer risk were searched in the PubMed, Web of Science, and CNKI databases.Data were included in the meta-analysis if they were from original studies adopting a case-control design investigating the association between IL-23R polymorphisms and risk of any cancer; all cancer cases must have been confirmed by histology or pathology, and controls selected from noncancer individuals. Case-only studies and review papers were excluded.Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the relationship of IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) with cancer risk. A random-effects model or fixed-effects model was used depending on the heterogeneity of the data.Ultimately, 15 studies, involving 8784 cancer patients and 10,321 cancer-free controls, were included in our meta-analysis. In the overall analysis, the rs10889677 polymorphism was associated with breast cancer (BC) under the allelic, homozygous, dominant, and heterozygous models. Rs1884444 polymorphism was relevant to hepatocellular carcinoma (HCC) under the homozygous, recessive, and allelic models. However, no evidence of a relationship between IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) and cancer risk was found in the overall population.Our meta-analysis provides no evidence supporting a global association of IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) with the risk of cancer. However, rs10889677 may be associated with BC susceptibility and rs1884444 had association with HCC risk. Further large and well-designed studies are warranted to confirm this finding.

Association of Interleukin-23 receptor gene polymorphisms with susceptibility to Crohn’s disease: A meta-analysis

Studies investigating the association between Interleukin-23 receptor (IL-23R) gene polymorphisms and Crohn’s disease (CD) report conflicting results. Thus, a meta-analysis was carried out to assess the association between the IL-23R polymorphisms and CD. A systematic literature search was conducted to identify all relevant studies. Pooled odds ratio (ORs) with 95% confidence interval (CIs) was used to estimate the strength of association. Finally, a total of 60 case-control studies in 56 articles, involving 22,820 CD patients and 27,401 healthy controls, were included in the meta-analysis. Overall, a significant association was found between all CD and the rs7517847 polymorphism (OR = 0.699, 95% CI = 0.659 ~ 0.741, P < 0.001). Meta-analysis of the rs11209026, rs1343151, rs10489629 and rs11465804 polymorphisms indicated the same pattern as for rs7517847. Meta-analysis showed an association between the rs10889677A allele and CD (OR = 1.393, 95% CI = 1.328 ~ 1.461, P < 0.001). Similarly, meta-analysis of the rs2201840, rs1004819, rs1495965 and rs11209032 polymorphisms revealed the same pattern as that shown by meta-analysis of rs10889677. Stratification by ethnicity revealed that IL-23R gene polymorphisms were associated with CD in the Caucasian group, but not in Asians. In summary, the meta-analysis suggests a significant association between IL-23R polymorphisms and CD, especially in Caucasians.

Meta-analysis of the IL23R and IL12B polymorphisms in multiple sclerosis

Purpose: Polymorphisms in the genes encoding interleukin-23 receptor (IL23R) and the p40 subunit of IL-12/23 (IL12B) have been implicated in multiple sclerosis (MS) risk. However, results of different studies are inconsistent. Our aim was to perform a meta-analysis on this topic. Methods: We assessed two variants (rs10889677 and rs7517847) of IL23R and the A1188C polymorphism (rs3212227) of IL12B. Electronic databases (PubMed, Web of Science and Scopus) were searched for eligible studies published until September 2014. Odds ratio (OR) and 95% confidence interval (95% CI) were used to investigate the strength of association in dominant, recessive, homozygote and allelic comparison models. Results: Seven case–control studies with 2250 MS patients and 2320 controls were included in this meta-analysis. The pooled results showed no association of rs10889677 and rs7517847 with MS risk in any of the genetic models. Although the pooled analysis showed an association between rs3212227 and MS in all study subjects in dominant (OR = 0.81, 95% CI: 0.66–0.99, Ph = 0.480, Pz = 0.044) and allelic comparison (OR = 0.84, 95% CI: 0.72–0.98, Ph = 0.967, Pz = 0.030) models, subgroup analysis based on ethnicity did not suggest an association between rs3212227 and MS risk in Caucasians in any of the genetic models, and there was no association between rs3212227 and MS risk in an Asian group. Conclusions: The IL23R polymorphisms rs10889677, rs7517847, and the IL12B polymorphism rs3212227 are not associated with MS risk.

Functional polymorphisms in interleukin-23 receptor and susceptibility to coronary artery disease.

As a key element in the T-helper 17 (Th17) cell-mediated inflammatory process, interleukin-23 receptor (IL-23R) may play a crucial role in the pathogenesis of atherosclerosis. Single nucleotide polymorphisms (SNPs) in IL-23R have been studied in several diseases. However, its association with coronary artery disease (CAD) remains unclear. This study examined whether genetic polymorphisms in IL-23R were associated with susceptibility to CAD. Two IL-23R SNPs, rs1884444 and rs6682925, were genotyped in 462 CAD patients and 486 healthy controls. Data showed that percentages of rs6682925TC and CC genotypes were significantly higher in patients than in controls (odds ratio [OR]=1.23, 95% confidence interval [CI]: 1.04-1.79, p=0.022; OR=2.35, 95% CI: 1.52-3.43, p<0.001, respectively). Frequency of the rs1884444 polymorphism did not reveal any significant differences between patients and healthy donors. Further analyses demonstrated a significantly increased number of rs6682925CC genotype in patients with hypertension. Moreover, we investigated the effect of IL-23R polymorphisms on gene expression by assessing mRNA level of IL-23R in peripheral blood mononucleated cells (PBMCs). Results showed that subjects carrying rs6682925TC and CC genotypes had significantly increased mRNA level of IL-23R in PBMCs than those with TT genotype. These data suggest that IL-23R rs6682925T/C polymorphism may act as a risk factor of CAD.

Interleukin-23 receptor genetic polymorphisms and ulcerative colitis susceptibility: A meta-analysis

The interleukin-23 receptor (IL-23R) polymorphism has been implicated in susceptibility to ulcerative colitis (UC), but the results remain inconclusive. This study was designed to evaluate whether IL-23R polymorphisms were associated with UC susceptibility. CNKI, WanFang Data, PubMed, MEDLINE, Web of Science, Google Scholar, EBSCO, CBM database and EMBASE were searched until 31 June 2014 for eligible studies on eight IL-23R polymorphisms: rs11209026, rs7517847, rs1209032, rs2201841, rs1343151, rs1088967, rs1495965 and rs1004819. Meta-analysis from all eligible case-control studies was performed to assess the purported associations. Meta-analysis was performed by using the RevMan 5.2 software and STATA package version 12.0. Sixteen studies with 5438 cases and 7380 controls were included. Overall, our analysis found that variant minor alleles for single nucleotide polymorphisms (SNPs) rs11209026 (Arg381Gln) (dominant model: GG+TG vs. TT, P=0.02, OR=0.71, 95%CI: 0.53-0.94); rs7517847 (recessive model: GG vs. TT, P=0.04, OR=0.80, 95%CI: 0.65-0.99) and rs11209032 [dominant model: GA+AA vs. GG (P=0.04, OR=1.31, 95% CI: 1.01-1.26); AA vs. GG: (P=0.04, OR=1.21, 95% CI: 1.01-1.45)] of IL-23R were associated with UC risk. In stratification analysis by ethnicity, we observed that the rs11209026 and rs7517847 polymorphism of IL-23R could protect against development of UC among Caucasian populations [rs11209026: dominant model (P=0.01, OR=0.69, 95%CI: 0.52-0.92); rs7517847: GG vs. TT (P=0.002, OR=0.69, 95%CI: 0.54-0.87); recessive model (P=0.004, OR=0.73, 95% CI: 0.59-0.90)]; the rs11209032 were associated with a greater risk for UC in Caucasian populations [dominant model (P=0.04, OR=1.13, 95%CI: 1.00-1.26)]; the rs1088967 were associated with a lower risk for UC among Asian populations [dominant model (P=0.04, OR=0.73, 95%CI: 0.54-0.99)]. Moreover, meta-analysis revealed no association between the four alleles of the rs2201841, rs1004819, rs1495965 and rs1343151 polymorphisms and the risk of developing UC in Caucasian and Asian populations. Our meta-analysis supports that two polymorphisms (rs11209026 and rs7517847) in the IL-23 gene may be considered to be protective factors against developing UC among Caucasian populations; while the rs11209032 polymorphisms may increase the risk of UC among Caucasian populations; furthermore, the rs1088967 polymorphisms in the IL-23 gene may be considered to be protective factors against developing UC among Asian populations. Further large case-control studies especially concerning ethnicity differences and genotype-phenotype interaction should be performed to clarify possible roles of IL-23R in UC.

Association of interleukin-23 receptor gene polymorphisms with risk of bladder cancer in Chinese.

To assess whether polymorphisms of the interleukin-23 receptor (IL23R) gene are associated with bladder transitional cell carcinoma because chronic inflammation contributes to bladder cancer and the IL23R is known to be critically involved in the carcinogenesis of various malignant tumors. 226 patients with bladder cancer and 270 age-matched controls were involved in the study. Polymerase chain reaction-restriction fragment length polymorphism was used for genotyping. Genotype distribution and allelic frequencies between patients and controls were compared. In all three single nucleotide polymorphisms of IL23R studied, the distribution of genotype and allele frequencies of rs10889677 differed significantly between patients and controls. The frequency of allele C of rs10889677 was significantly increased in cases compared with controls (0.2898 vs. 0.1833, odds ratio 1.818, 95 % confidence interval 1.349-2.449). The result indicates that IL23R may play an important role in the susceptibility of bladder cancer in Chinese population.

Interleukin-23 receptor polymorphisms are associated with Alzheimer's disease in Han Chinese

Inhibition of interleukin-23 (IL-23) signaling was reported to reduce AD pathology, and IL-23 receptor gene (IL23R) which encodes IL-23 receptor may represent a candidate susceptibility gene for AD. Here, we conducted a case–control association study to assess the effect of IL23R genetic polymorphisms on the risk of AD in a Northern Han Chinese population. Two tag functional single polymorphisms (SNPs), rs10889677 and rs1884444 were selected, and their associations with AD risk factors were assessed in 1133 AD patients and 1156 matched controls. Our association analysis showed that C allele of rs10889677 was significantly associated with decreased AD risk even after adjusting for age, gender, and apolipoprotein E gene (APOE) ɛ4 status. The G allele of rs1884444 polymorphism is significantly associated with a higher risk of AD in APOE ɛ4 carriers. Our results demonstrate that IL23R genetic polymorphisms are associated with AD in a Northern Han Chinese population.