rs763780

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.

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).

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 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.

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.

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.