rs1800796

Case-control study of 81 endometrial cancer patients and 198 controls in Hainan Chinese Han women examined IL4 and IL6 gene polymorphisms. Two IL6 SNPs showed significant associations with endometrial cancer risk: rs1524107 (T/C, OR = 1.61, p = 0.0155) and rs2066992 (T/G, OR = 3.09, p = 3.13 × 10⁻⁹). No IL4 SNPs were significantly associated with endometrial cancer risk.

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).

A case-control study in 220 adults with severe hip osteoarthritis found associations between TGFB1 29T>C (rs1800470) and IL6 -572G>C (rs1800796) polymorphisms with developmental dysplasia of the hip (DDH). The TGFB1 C/C genotype was associated with increased DDH risk (OR=2.42, p=0.032), the IL6 C/C genotype with stronger association (OR=6.36, p<0.001), and combined risk genotypes at both loci showed the strongest association (OR=11.3, p<0.001), suggesting a potential interaction between these cytokines in DDH pathogenesis.

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.

Two-stage case-control study (1,584 cervical cancer cases, 1,768 controls) in Eastern Chinese women found IL6 rs2069837 SNP associated with increased cervical cancer risk (OR 1.27, 95% CI 1.08-1.49, dominant model, p=0.004; OR 1.19, 95% CI 1.04-1.36, additive model, p=0.014). IL6 rs2069837 AG/GG carriers showed significantly higher IL6 protein expression levels than AA carriers. Evidence of gene-environment interaction with age at primiparity and menopausal status in cervical cancer development.

Turkish case-control study examining TRAIL and TRAIL-DR4 gene polymorphisms in gastric cancer. Compared TRAIL C1595T (rs1131580) and TRAIL-DR4 C626G (rs20575) genotype frequencies between 50 gastric cancer patients and 163 healthy controls. No significant association found between either polymorphism and gastric cancer risk (p>0.256, p>0.189) or clinical parameters including tumor stage, lymph node involvement, distant metastasis, and perineural invasion. Serum TRAIL levels were also not significantly different between groups (p>0.33).

This case-control study of 159 Ukrainian individuals (144 born macrosomic, 27 normosomic) investigates genetic associations with deciduous tooth eruption timing. The study identified associations between RANKL rs9594759 (multiplicative model, increased risk of delayed eruption) and IL10 rs1800896 (overdominant model, increased risk of delayed eruption). CYP19A1 rs2414096 G allele and ESR1 rs9340799 -351 A allele were found as risk factors for fetal macrosomia formation. RANKL and IL10 variants showed multidirectional modifying effects on tooth eruption timing in macrosomic individuals.

This case-control study evaluated 12 SNPs in 8 inflammation-related genes across three studies (Los Angeles, Taixing China, and Memorial Sloan-Kettering) involving 2,049 smoking-related cancer cases and 1,666 controls. IL10 rs1800871 was inversely associated with oropharyngeal cancer (aOR: 0.69, 95% CI: 0.50-0.95) and positively associated with lung cancer among never smokers (aOR: 2.5, 95% CI: 1.3-5.1). TNF rs1799964 was inversely associated with smoking-related cancer in pooled never smokers (aOR: 0.36, 95% CI: 0.17-0.77). After Bayesian correction for multiple comparisons, IL10 rs1800871 and TNF rs1799964 emerged as noteworthy susceptibility markers for smoking-related cancers.

A nested case-control study of 309 postmenopausal osteoporotic women and 293 controls found that the IL6 -634G>C SNP (rs1800796) was associated with osteoporosis (OR 2.51, p=0.0047), independent of smoking or statin use. Additionally, the LRP5 C135242T SNP (rs545382) showed association with osteoporosis specifically in cigarette smokers (OR 2.8, p=0.03), suggesting a gene-environment interaction.

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

Nested case-control study of 258 prostate cancer cases and 258 matched controls in the CLUE II prospective cohort examining genetic variants in inflammation and obesity-related genes. The IL10 -1082G>A variant (rs1800896, A allele) was positively associated with prostate cancer risk (AG vs GG: OR=1.69, 95% CI 1.10-2.60; AA vs GG: OR=1.81, 95% CI 1.11-2.96), while a TLR4 variant (rs4986790) showed inverse association, and no consistent associations were found for obesity-related gene variants.

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.

A population-based case-control study of 750 rectal cancer cases and 1205 controls examined associations between inflammation-related factors and specific rectal tumor mutations. IL6 rs1800796 polymorphisms, ibuprofen use, and dietary antioxidants were associated with TP53 mutations (OR 0.41 for alpha tocopherol, p trend 0.02; OR 0.51 for beta carotene, p trend 0.03), with stronger associations for TP53 transversion mutations. These findings support an inflammation-related pathway in rectal cancer development.

Fine-mapping study of C-reactive protein (CRP) regulation in 594 African Americans using dense SNP genotyping and Bayesian model selection. Found rs3091244(T) allele as the key functional variant regulating CRP expression with additive effects (Bayes factor >100), explaining 5.20% of CRP variance with β=0.312 (95% CI 0.146-0.491). Secondary analysis supported a two-SNP model including rs12728740, which segregated with European-origin haplotypes. The study demonstrates that weaker linkage disequilibrium in African Americans resolved genetic ambiguity seen in European populations.

This cross-sectional study of 627 unvaccinated COVID-19 patients examined associations between cytokine gene polymorphisms and COVID-19 severity. Five polymorphisms were significantly associated with severe disease: TNF-α rs1800610 A allele (OR=1.50), IL-6 rs1800796 C allele (OR=1.64), IL-10 rs1800871 T allele (OR=1.94), IL-10 rs1800872 A allele (OR=1.87), and CCL5 rs3817656 G allele (OR=1.64). IL-10 rs1800629 was protective against moderate and severe disease.