rs2275913

This case-control study analyzes 28 SNPs in 26 inflammatory response genes in 343 patients (100 with appendicitis, 243 controls) using TaqMan genotyping. Significant associations were found for IL-13 rs1800925 (OR=6.02, 95% CI 1.52-23.78), IL-17 rs2275913 (OR=2.38, 95% CI 1.24-4.57), and CCL22 rs223888 (OR=0.12, 95% CI 0.02-0.90), suggesting a genetic-driven inflammatory response as a pathogenic mechanism in appendicitis.

A case-control study of 265 HAPE cases and 303 controls in a Chinese Han population investigated associations between 11 SNPs in IL1R1 and IL1R2 genes and high-altitude pulmonary edema (HAPE) risk. The rs2072472 variant in IL1R2 was significantly associated with decreased HAPE risk (OR = 0.73, 95% CI = 0.55-0.97, p = 0.033 in allele model; OR = 0.66, 95% CI = 0.49-0.90, p = 0.009 in log-additive model adjusted for age and gender), suggesting IL1R2 polymorphisms may play a protective role in HAPE susceptibility.

This Bayesian hierarchical meta-analysis of 37 case-control studies (23,506 RA patients, 25,984 controls) examined genetic polymorphisms in the IL23R, IL21, and IL17A genes for association with rheumatoid arthritis (RA) risk. The IL23R rs1343151 minor A allele significantly increased RA risk (Log OR = 0.085, 95% CI = 0.008–0.156), while the IL23R rs2201841 C allele significantly decreased RA risk (Log OR = −0.544, 95% CI = −1.0–−0.065). The analysis found no significant associations between IL21 rs6822844 or IL17A rs2275913 polymorphisms and RA susceptibility, suggesting that genetic variations in IL23R, but not IL21 or IL17A, are involved in RA pathogenesis.

A case-control study of 35 keratoconus patients and 61 controls from Brazil investigating interleukin 17 polymorphisms. The IL17F T7488C (rs763780) TT genotype was significantly associated with keratoconus risk (P = 0.04; OR = 3.01; 95% CI 1.11-8.14), while IL17A G197A (rs2275913) showed no significant association. The findings suggest IL17F polymorphism may influence keratoconus pathogenesis.

A case-control study of 120 Egyptian females with recurrent pregnancy loss (RPL) and 120 controls found that IL-17 F rs763780 CC genotype was associated with decreased RPL risk (OR=0.36, 95% CI=0.16-1.8, P=0.01), while IL-17 A rs2275913 AA genotype and leptin rs7799039 AA genotype were associated with increased RPL risk (OR=2.44, 95% CI=1.14-5.2, P=0.025 and OR=3.24, 95% CI=1.52-6.9, P=0.005, respectively). Serum IL-17 and leptin levels were significantly elevated in RPL patients compared to controls, with higher levels in obese versus lean RPL patients.

This PhD thesis investigated pharmacogenetics of microRNAs and immune system genes in locally advanced rectal cancer (LARC) patients treated with neoadjuvant chemoradiotherapy. In 265 LARC patients, five SNPs were identified as predictive biomarkers of pathological response: DROSHA-rs10719 (OR=1.87, p=0.0274) and SMAD3-rs17228212 (OR=2.01, p=0.0049) were unfavorable, while SMAD3-rs744910 (OR=0.45, p=0.0153), SMAD3-rs745103 (OR=0.48, p=0.0471), and TRBP-rs6088619 (OR=0.39, p=0.0125) were protective. In 235 LARC patients, three prognostic biomarkers for 2-year disease-free survival were identified: IL17F-rs641701 (HR=3.23, p=0.003), IL17F-rs9463772 (HR=2.89, p=0.002), and STAT3-rs8069645 (HR=0.50, p=0.044).

Immunogenetic study of pulmonary tuberculosis in a Spanish population (n=577), investigating HLA, KIR genes, and immune response genes. Found associations of HLA alleles (HLA-A*02, HLA-B*07, HLA-C*08, HLA-DRB1*04) with TB susceptibility/resistance, KIR gene distributions with TB progression, CCL5 promoter polymorphisms (rs2280788, rs2107538) with TB susceptibility, IL-17 rs2275913 -152G allele with increased TB risk (OR 1.40), TLR1 rs5743618 (T1805G) in recessive model, and Dectin-1/CARD9 haplotypes (rs3901533, rs7309123, rs16910526, rs4077515) associated with TB susceptibility.

This systematic literature review examines interleukin and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA) pathogenesis, diagnostics, and treatment. The paper summarizes polymorphisms in multiple IL genes (IL-1B rs16944, rs1143634; IL-6 rs1800795, rs1800796; IL-10 rs1800896; IL-23R rs11209026; IL-17A rs2275913 and others) across diverse populations, their associations with RA susceptibility and disease severity, and discusses current and future immunologic therapeutic targets including TNF inhibitors and IL-6 receptor antagonists.

Case-control study of 270 UC and 82 CD patients versus 268 controls in a Chinese Han population found that IL17F rs763780 mutant allele C was significantly associated with increased Crohn's disease risk (OR 1.18, 95% CI 1.41-3.04, P=0.033) and ileocolic phenotype. IL17A rs2275913 G-197A variant showed weak association with UC disease severity, and a rare IL17A haplotype (GGTT; rs2275913/rs8193037/rs8193038/rs3804513) was a risk factor for UC (OR 4.58, P=0.034).

A retrospective case-control study investigating immunogenetic factors in pulmonary tuberculosis (TBP) conducted in Cantabria, Spain with 318 TBP patients, 218 latently infected (ITL) individuals, and 524 healthy controls. Multiple HLA alleles and immune-related genetic polymorphisms were analyzed for association with TB susceptibility. Key findings include HLA-B07, B08, B14, B44 as protective factors against active disease; the IL-17 -152G allele (rs2275913) and GG genotype significantly more frequent in TBP patients (OR 1.40-1.59, p<0.02); TLR1 1805G polymorphism (rs5743618) associated with TB susceptibility; and KIR gene frequency variations between study groups.

A meta-analysis of 80 studies (69 publications) with 26,428 cancer cases and 43,381 controls evaluating the ESR1 PvuII rs2234693 T>C polymorphism and cancer susceptibility. Overall, the T allele showed modest decreased cancer risk (OR=0.95, 95% CI=0.91-0.99), with stronger associations for specific cancer types: prostate cancer (TT vs. CC: OR=0.79), leiomyoma (T vs. C: OR=0.82), and hepatocellular carcinoma (TT vs. CC: OR=0.45). The authors conclude that ESR1 PvuII polymorphism has minimal impact on overall cancer susceptibility.

A case-control study of 1,645 esophageal cancer cases and 1,694 controls in a Chinese population found that IL-23R rs6682925 T>C (adjusted OR=1.23, 95% CI 1.07-1.42) and rs1884444 T>G (adjusted OR=1.16, 95% CI 1.01-1.33) variant genotypes were significantly associated with increased esophageal cancer risk. The associations were independent of smoking and alcohol drinking status.

This systematic literature review examines interleukin (IL) and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA), covering studies from the past 10 years. The review discusses the pathogenesis of RA as a multifactorial autoimmune disease where genetic factors account for approximately 60% of disease risk. Multiple polymorphisms across IL-1, IL-2, IL-4, IL-6, IL-8, IL-10, IL-15, IL-17, IL-18, and IL-23R genes have been investigated in various populations, with inconsistent results across populations. The paper also reviews current and future therapeutic targets including anti-TNF, anti-IL-1, anti-IL-6, and anti-IL-17 treatments.

This case-control study of 763 Crohn's disease cases and 254 healthy controls investigated 10 genes in the IL23/IL17 pathway, identifying novel haplotype associations in IL17A (p=0.02), IL17RA (p=0.001), IL17RD (p=0.001), IL12RB1 (p=0.003), and IL12RB2 (p=0.001). Combined risk haplotypes from multiple pathway genes showed cumulative effect with OR=4.3 for 5 risk haplotypes (p=1.7×10⁻⁷), and significant epistatic interactions were observed between IL17A and IL23R variants (p=0.047) and between IL17RA and IL23R variants (p=0.036).