Genetics Research
rs11209026
Arginine 381 → Glutamine
Gene: IL23R — Interleukin 23 Receptor
Chr 1:67240275
1p31.3
Missense Variant
Population Frequencies12
African
G 0.98678A 0.01322GG 0.973785GA/AG 0.025989AA 0.000226pop=70,800
African American
G 0.98647A 0.01353GG 0.973176GA/AG 0.02659AA 0.000234pop=68,372
African Others
G 0.9955A 0.0045GG 0.990939GA/AG 0.009061AA 0pop=2,428
Asian
G 0.99827A 0.00173GG 0.996545GA/AG 0.003455AA 0pop=17,364
East Asian
G 0.99985A 0.00015GG 0.999694GA/AG 0.000306AA 0pop=13,074
European
G 0.933915A 0.066085GG 0.872305GA/AG 0.123221AA 0.004474pop=644,190
Latin American 1
G 0.94543A 0.05457GG 0.894118GA/AG 0.102624AA 0.003258pop=11,050
Latin American 2
G 0.95974A 0.04026GG 0.920686GA/AG 0.078108AA 0.001206pop=14,928
Other
G 0.95095A 0.04905GG 0.904968GA/AG 0.09196AA 0.003072pop=38,408
Other Asian
G 0.9935A 0.0065GG 0.986946GA/AG 0.013054AA 0pop=4,290
South Asian
G 0.985A 0.015GG 0.970555GA/AG 0.028989AA 0.000457pop=8,762
Studies20
Unread Studies20 ▼
1
Background: Psoriasis is a chronic immune-mediated inflammatory disease with a strong genetic basis, driven in part by the dysregulation of the IL-23/Th17 signaling axis. Variants in the IL23R and IL12B genes have been associated with psoriasis susceptibility; however, data from Eastern European populations remains scarce. Objective: We aimed to evaluate the link between IL23R rs11209026 and IL12B rs3213094 polymorphisms and psoriasis susceptibility in a multi-center, Romanian cohort. Methods: W…
2
BACKGROUND: Psoriasis is an immune-mediated inflammatory disease with a strong genetic basis. The Interleukin-23 (IL-23)/Th17 axis is central to its pathogenesis. While IL-23 is established, studies on systemic serum levels and IL23R gene polymorphisms yielded varied results. Our study clarified these associations through a systematic review and meta-analysis. METHODS: A systematic search was performed to find relevant studies. For serum IL-23, a random-effects model calculated overall Hedges&#x…
3
Background and Objectives: Psoriasis is a chronic immune-mediated inflammatory disease characterized by heterogeneous clinical presentation and variable response to biologic therapy. Genetic variation within the IL-23/Th17 inflammatory pathway may influence treatment outcomes. This study evaluated the association between IL12B rs3213094 and IL23R rs11209026 single-nucleotide polymorphisms (SNPs) and response to biologic therapy in patients with moderate-to-severe psoriasis. Materials and Methods…
4
Background/Objectives: Glomerulonephritis (GNs) is a heterogeneous group of inflammatory kidney diseases. Novel genetic methods have revealed some disease-causing and susceptibility genes underlying primary and secondary GNs. We aimed to investigate the presence of the single nucleotide polymorphisms (SNPs) rs12917707, found in the UMOD gene, and rs17319721, found in the SHROOM3 gene, as well as different polymorphisms in immune system genes in a group of children with GN. Method: The study incl…
5
Inflammatory bowel disease (IBD), which includes Crohn's Disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract. A key component of the inflammatory pathway in IBD is interleukin 23 (IL-23), which promotes the differentiation and maintenance of Th17 cells. These cells are major contributors to intestinal inflammation and the release of pro-inflammatory cytokines. A dysregulated IL-23/Th17 axis can lead to excessive gut inflammation. Notab…
6
The hypomorphic variant rs11209026-A in the IL23R gene provides significant protection against immune-related diseases in Europeans, notably inflammatory bowel diseases (IBD). Today, the A-allele occurs with an average frequency of 5% in Europe. This study comprised 251 ancient genomes from Europe spanning over 14,000 years. In these samples, the investigation focused on admixture-informed analyses and selection scans of rs11209026-A and its haplotypes. rs11209026-A was found at high frequencies…
7
The etiology of Rheumatoid Arthritis (RA) development remained unclear, and several factors, such as environmental, genetic, and immune system dysfunction, have been attributed to the susceptibility. Interleukin 23 (IL23) induces expansion of the Th17 cells through the IL-23 receptor (IL-23R) and believes in playing a major role in RA pathogenesis. Various genetic mutants in the IL23R gene (rs10489629, rs1343151, rs2201841, rs7517847, rs1004819, rs10889677, rs11209026, rs7530511) have been assoc…
8
Several studies have reported genetic polymorphisms at the IL-23/IL-17 axis linked to rheumatoid arthritis (RA) in many populations. We aimed to investigate the association of IL-17A rs2275913 and IL-23R rs11209026 polymorphisms with susceptibility to RA and, disease clinical features and the serum level of IL-17A in Egyptian patients. This case-control study included 94 RA cases and 74 controls. TaqMan genotyping assays were used for detection of gene polymorphism and the enzyme-linked immunoso…
9
Severe COVID-19 disease was linked to a severe proinflammatory response and cytokine storm interleukin 17 (IL-17) is one of these cytokines, was associated with severe acute lung injury and multiorgan dysfunction. Single nucleotide polymorphisms (SNPs) in genes coding IL-17 can affect level of IL-17 hence its role in diseases. Also, SNPs in IL-23 R which control IL-23 is the main activator of IL-17 production. This study aimed to determine whether the IL-17A (G/A-rs2275913), IL-23R (A/G rs112090…
10
Psoriasis is a common immune-mediated inflammatory skin disease. Although biological agents have achieved good clinical efficacy in the treatment of moderate-to-severe psoriasis, the phenomenon of secondary non-response (SNR) has been gradually recognized. SNR refers to the gradual decline of efficacy after the patient achieves clinical remission with biological agents such as TNF-α biologics. Acitretin, as an immunomodulatory systemic drug for psoriasis, can improve the SNR to biological…
11
To determine whether polymorphisms of interleukin 12B (IL12B) and IL23 receptor genes (IL23R) confer susceptibility to systemic lupus erythematosus (SLE). A meta-analysis was conducted to analyze the associations between SLE and IL12B rs3212227 and rs17860508 and IL23R rs7517847, rs10489629, rs10889677, rs1004819, rs11209026, rs11209032, rs1343151, and rs1884444 polymorphisms using allele contrast, dominant, recessive, heterozygote, and homozygote models. Ten studies involving 1989 patients with…
12
(1) Background: interleukin 23 (IL-23) and interleukin 27 (IL-27) modulate the activity of T helper 17 cells (Th17) with critical roles in autoimmune diseases and multiple sclerosis (MS). The genes responsible for cytokine generation are highly influenced by the presence of single nucleotide polymorphisms (SNP) in main regions such as regulatory sequences or in promoter regions, contributing to disease susceptibility and evolution. The present study analyzed the associations of IL-23 and IL-27 S…
13
Genetic and environmental factors are involved in the pathogenesis of inflammatory bowel diseases (IBD). The study aimed at investigating the potential influence of single nucleotide polymorphisms (SNPs) NOD2 rs2066844, NOD2 rs2066845, NOD2 rs2066847, IL23R rs11209026, PTPN2 rs2542151, PTPN2 rs7234029, and ATG16L1 rs2241880 on the response to immunomodulatory therapies and disease course in Crohn's disease (CD). This is an uncontrolled retrospective monocentric study including patients from the…
14
Over a third of patients with Acanthamoeba keratitis (AK) experience severe inflammatory complications (SICs). This study aimed to determine if some contact lens (CL) wearers with AK were predisposed to SICs due to variations in key immune genes. CL wearers with AK who attended Moorfields Eye Hospital were recruited prospectively between April 2013 and October 2014. SICs were defined as scleritis and/or stromal ring infiltrate. Genomic DNA was processed with an Illumina Low Input Custom Amplicon…
15
TH17/IL-23 immune axis is considered to be involved in the pathogenesis of autoimmune and chronic inflammatory diseases. Bullous pemphigoid (BP) is the most frequent autoimmune blistering disease, characterized by the presence of autoantibodies against the components of the dermal-epidermal junction. Animal studies and characterization of patient samples point toward a contribution of TH17 cells in BP pathogenesis. However, genetic polymorphisms in the genes of TH17/IL-23 cytokines have not yet…
16
The present study investigated the association of cytokines genes polymorphisms (IL-2, IL-8 and IL-18) and polymorphisms in genes encoding molecules related to the differentiation of Th17 subpopulation (IL-17 and IL-23R) with the risk of bladder cancer (BC) and response to BCG immunotherapy. Altogether, 175 BC patients treated with BCG due to high-grade non-muscle invasive tumors and 207 healthy individuals were genotyped for the following polymorphisms: IL-17A-197G>A (rs2275913); IL-17F+7488…
17
IL23R plays an important role in the pathogenesis of inflammatory bowel disease (IBD). The IL23R rs11209026 and rs10889677 polymorphisms have been shown to be associated with the development of Crohn's disease (CD) and ulcerative colitis (UC). But the results were inconsistent and inconclusive. So, we aim to investigate the genetic association between rs11209026 and rs10889677 polymorphisms and UC and CD risk by a meta-analysis. Literature search was conducted through PubMed, CNKI, and web of sc…
18
Ulcerative colitis and Crohn's disease are the two clinical forms of inflammatory bowel disease (IBD). Diverse studies have shown the association of single nucleotide polymorphism (SNP) in molecules of the immune system and the occurrence of IBD. Here, several SNPs of the immune system with controversial results for their association with UC and CD were evaluated in a Mexican population. SNPs rs1800896, rs3024505 (IL-10); rs11209026 (IL23R); rs2066844, rs2066845 (NOD-2), and rs2241880 (ATG16L1)…
19
Vulvovaginal candidiasis (VVC) is a common vaginal inflammatory disease in females. The interleukin (IL)-23/IL-17 axis was involved in vaginal inflammation. Nevertheless, the relationship between gene polymorphisms in the IL-23/IL-17 axis and VVC risk is still unexplored. We enrolled 217 VCC cases and 326 controls in this study. The genotyping of all polymorphisms was implemented by PCR-RFLP methods. Data indicated that IL-17F gene rs763780, IL-17A gene rs2275913, and IL-23R rs11209026 polymorph…
20
IL-23R gene polymorphisms and the association of these polymorphisms with serum IL-23 levels were investigated in patients with psoriasis in the current study. Sixty-seven patients with psoriasis who were admitted to our dermatology outpatient clinic and 67 healthy controls were included in the study. Polymorphisms of the IL-23R gene were determined by KASP-PCR method, and serum IL-23 levels were determined by ELISA method. The distribution of IL-23R gene polymorphisms rs2201841, rs11209026, rs7…
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